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
WSCD1	23302	broad.mit.edu	37	17	6014093	6014093	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:6014093A>T	ENST00000574946.1	+	7	1402	c.1012A>T	c.(1012-1014)Act>Tct	p.T338S	WSCD1_ENST00000573634.1_Missense_Mutation_p.T222S|WSCD1_ENST00000317744.5_Missense_Mutation_p.T338S|WSCD1_ENST00000574232.1_Missense_Mutation_p.T338S|WSCD1_ENST00000539421.1_Missense_Mutation_p.T338S			Q658N2	WSCD1_HUMAN	WSC domain containing 1	338	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACTTTCAGACACTCGTTGTAC	0.488000													93	250					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156879582	156879582	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:156879582G>A	ENST00000338302.3	+	13	1676	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	PEAR1_ENST00000292357.7_Missense_Mutation_p.G484E			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	484						integral to membrane		p.G484E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCCCACCCGGAACCTGGGGC	0.627000													17	69					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37004998	37004998	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:37004998G>A	ENST00000523638.1	-	3	2264	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	ZNF260_ENST00000588993.1_Silent_p.I381I|ZNF260_ENST00000593142.1_Silent_p.I381I|ZNF260_ENST00000592282.1_Silent_p.I381I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	381					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CACCAGTATGGATTCTCATGT	0.408000													22	91					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115489079	115489079	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:115489079C>T	ENST00000369321.2	+	8	1111	c.791C>T	c.(790-792)tCg>tTg	p.S264L	CASP7_ENST00000369315.1_Missense_Mutation_p.S231L|CASP7_ENST00000345633.4_Missense_Mutation_p.S231L|CASP7_ENST00000452490.2_Missense_Mutation_p.S206L|CASP7_ENST00000369318.3_Missense_Mutation_p.S231L|CASP7_ENST00000369331.4_Missense_Mutation_p.R220C	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	231					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GGCTATTACTCGTGGAGGAGC	0.507000													39	55					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182826	6182826	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:6182826G>T	ENST00000588304.1	+	9	1267	c.821G>T	c.(820-822)tGg>tTg	p.W274L	ACSBG2_ENST00000588485.1_Missense_Mutation_p.W137L|ACSBG2_ENST00000252669.5_Missense_Mutation_p.W324L|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Missense_Mutation_p.W324L|ACSBG2_ENST00000591403.1_Missense_Mutation_p.W324L			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	324					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCAAATTTGGGAGAAGATA	0.463000													12	38					0.000151284	0.000152133	1	1	0
MUC16	94025	broad.mit.edu	37	19	9069347	9069347	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:9069347G>A	ENST00000397910.4	-	3	18302	c.18099C>T	c.(18097-18099)tcC>tcT	p.S6033S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6035	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						CGGATGGCTGGGAGTGGATTG	0.438000													39	123					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25456969	25456969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:25456969C>T	ENST00000278886.6	-	17	3031	c.2958G>A	c.(2956-2958)tgG>tgA	p.W986*	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	986					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGCCCCTGCTCCAGCTTCGTG	0.692000													33	65					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68942864	68942864	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:68942864G>A	ENST00000288368.4	+	6	953	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	226					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGTTTTAGAGGAATGGCAGTC	0.458000													14	123					0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411442	210411442	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:210411442C>T	ENST00000367012.3	+	2	367	c.137C>T	c.(136-138)cCt>cTt	p.P46L	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	46							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GCACAAGCTCCTTTGCAGGGA	0.642000													40	56					0	0	1	0	0
C10orf111	221060	broad.mit.edu	37	10	15138530	15138530	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:15138530C>T	ENST00000378207.3	-	2	567	c.294G>A	c.(292-294)ttG>ttA	p.L98L		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	98						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						AAGGGTAGATCAACAGATCCA	0.527000													20	62					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437169	120437169	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:120437169G>A	ENST00000369400.1	-	1	1949	c.1791C>T	c.(1789-1791)ccC>ccT	p.P597P		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	597	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTATTCCCATGGGTTTCATGG	0.443000													16	127					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098546	143098546	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:143098546G>A	ENST00000275815.3	-	3	389	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	101						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCCGCACGGTGAACTGCAGCT	0.612000													80	184					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640335	104640335	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:104640335G>A	ENST00000304883.2	-	1	638	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	166						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACACAGCTGTGATAGGAAAGA	0.522000													17	39					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602715	13602715	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:13602715T>A	ENST00000040738.5	-	10	5944	c.5809A>T	c.(5809-5811)Aca>Tca	p.T1937S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1937							DNA binding										CCTTTCTCTGTGCCACTCATG	0.468000													18	57					0	0	1	0	0
TMEM99	147184	broad.mit.edu	37	17	38990881	38990881	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:38990881C>T	ENST00000301665.3	+	3	417	c.113C>T	c.(112-114)tCa>tTa	p.S38L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	38						integral to membrane		p.S38L(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GTTCCTCATTCAGCTGGTCAC	0.522000													33	100					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638571	12638571	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:12638571G>A	ENST00000339282.7	-	4	547	c.351C>T	c.(349-351)tcC>tcT	p.S117S	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GCCTACTAAGGGATGAATGAT	0.383000													25	65					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549503	158549503	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:158549503C>T	ENST00000368150.1	-	1	186	c.187G>A	c.(187-189)Ggt>Agt	p.G63S		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CAAGTTAGACCCATGATGATC	0.473000													69	79					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110322028	110322028	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:110322028G>A	ENST00000356688.4	-	8	1258	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000545389.1_Missense_Mutation_p.H148Y|SEPT10_ENST00000415095.1_Missense_Mutation_p.H315Y|SEPT10_ENST00000397712.2_Missense_Mutation_p.H315Y|SEPT10_ENST00000397714.2_Missense_Mutation_p.H292Y|SEPT10_ENST00000437928.1_Missense_Mutation_p.H300Y|SEPT10_ENST00000334001.6_Missense_Mutation_p.H182Y			Q9P0V9	SEP10_HUMAN	septin 10	315					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGCCTGGTATGGGTCTGCTCT	0.468000													42	65					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94083625	94083625	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:94083625A>G	ENST00000553484.1	+	29	4419	c.4265A>G	c.(4264-4266)aAg>aGg	p.K1422R	UNC79_ENST00000393151.2_Missense_Mutation_p.K1400R|UNC79_ENST00000256339.4_Missense_Mutation_p.K1223R|UNC79_ENST00000555664.1_Missense_Mutation_p.K1400R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1400						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						ATGTGGTTGAAGGCCTTGCTT	0.498000													9	67					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885163	88885163	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:88885163C>T	ENST00000319675.3	-	1	1133	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	346										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGCAGGTGGCCATGACGGAG	0.607000													59	48					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7351964	7351964	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:7351964G>A	ENST00000306071.2	+	7	744	c.677G>A	c.(676-678)gGa>gAa	p.G226E	CHRNB1_ENST00000576360.1_Missense_Mutation_p.G154E|CHRNB1_ENST00000536404.2_Missense_Mutation_p.G154E	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	226					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GATCCTAGGGGAGGGAGGGAA	0.567000													20	41					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251638	92251638	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:92251638C>T	ENST00000435962.2	-	11	1553	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	TC2N_ENST00000340892.5_Silent_p.L410L|TC2N_ENST00000556018.1_Silent_p.L346L|TC2N_ENST00000360594.5_Silent_p.L410L	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	410	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TGGAGGCCTTCAGTAAGCGTG	0.343000													71	220					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444290	75444290	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:75444290G>T	ENST00000549446.1	-	3	2175	c.1495C>A	c.(1495-1497)Cct>Act	p.P499T	KCNC2_ENST00000540018.1_Missense_Mutation_p.P499T|KCNC2_ENST00000393288.2_Missense_Mutation_p.P499T|KCNC2_ENST00000341669.3_Missense_Mutation_p.P499T|KCNC2_ENST00000550433.1_Missense_Mutation_p.P499T|KCNC2_ENST00000350228.2_Missense_Mutation_p.P499T|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Missense_Mutation_p.P499T|KCNC2_ENST00000548513.1_Missense_Mutation_p.P499T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	499					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGAGGAGCAGGAGGGATGTGC	0.443000													11	69					3.86212e-05	3.91012e-05	1	1	0
SYT2	127833	broad.mit.edu	37	1	202572213	202572213	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:202572213C>T	ENST00000367267.1	-	4	571	c.379G>A	c.(379-381)Ggg>Agg	p.G127R	SYT2_ENST00000367268.4_Missense_Mutation_p.G127R	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	127					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCACCTTCCCCCTCAGTCAGG	0.552000													34	120					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648776	169648776	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:169648776G>A	ENST00000366787.3	-	4	594	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	115	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.I115I(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTTGGAGACGATCTCGAACT	0.657000													28	38					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31144519	31144519	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:31144519G>A	ENST00000304166.4	+	15	1503	c.1214G>A	c.(1213-1215)gGt>gAt	p.G405D	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G384D|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G433D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G461D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	405					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTTCTGAATGGTGAGGTAAGA	0.522000													102	205					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113063098	113063098	+	Silent	SNP	C	C	T	rs145437043		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:113063098C>T	ENST00000369684.4	+	5	1628	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	WNT2B_ENST00000369686.4_Silent_p.A362A|WNT2B_ENST00000256640.5_Silent_p.A289A	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	381					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCAAAGCCCCCAAGAAGG	0.502000													8	20					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155598993	155598993	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:155598993C>T	ENST00000297261.2	-	2	709	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	187					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTTACCTGCTTTCACCGAG	0.627000													20	100					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35707199	35707199	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:35707199C>T	ENST00000396081.1	-	4	1144		c.e4-1		HERPUD2_ENST00000311350.3_Splice_Site|HERPUD2_ENST00000426180.1_Splice_Site	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2						response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GATCTGAACTCTACAAATAAA	0.358000													6	72					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633608	69633608	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:69633608G>A	ENST00000337103.4	+	9	2599	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	C8orf34_ENST00000539993.1_Missense_Mutation_p.G361E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G447E|C8orf34_ENST00000325233.3_Missense_Mutation_p.G105E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	361					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCCTTGCCTGGGACTGAAGAA	0.294000													7	52					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42160643	42160643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:42160643G>A	ENST00000320955.6	-	33	6237	c.6010C>T	c.(6010-6012)Cag>Tag	p.Q2004*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2004					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCCCCAGCTGGGTGGCCTGC	0.682000													5	25					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1243537	1243537	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:1243537C>T	ENST00000308624.5	+	11	1006	c.877C>T	c.(877-879)Cct>Tct	p.P293S	SNTG2_ENST00000407292.1_Missense_Mutation_p.P166S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	293					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATGCTGCTCTCCTTCCGACCA	0.478000													9	10					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955511	215955511	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:215955511C>T	ENST00000366943.2	-	54	10999	c.10613G>A	c.(10612-10614)cGa>cAa	p.R3538Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R3538Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3538	Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATTCCATTTCGAAGAAGGAT	0.348000										HNSCC(13;0.011)			5	40					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43616546	43616546	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:43616546T>A	ENST00000360835.3	-	14	1723	c.1597A>T	c.(1597-1599)Aag>Tag	p.K533*		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	533					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGGCGCCTCTTCTTGGAGGAG	0.582000													20	182					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62292767	62292767	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:62292767C>T	ENST00000318100.4	+	3	1046	c.219C>T	c.(217-219)gcC>gcT	p.A73A	RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A73A|RTEL1_ENST00000508582.2_Silent_p.A73A|RTEL1_ENST00000360203.5_Silent_p.A73A|RTEL1_ENST00000370018.3_Silent_p.A73A			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	73	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCAAGATTGCCGAGAGGGCGC	0.637000													24	50					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506687	37506687	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:37506687G>A	ENST00000374660.1	+	39	3436	c.3337G>A	c.(3337-3339)Gaa>Aaa	p.E1113K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E994K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E994K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						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						AAAAATTAGGGAAGAATTAGG	0.318000													14	37					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69250346	69250346	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:69250346A>C	ENST00000551568.1	-	9	1263	c.1203T>G	c.(1201-1203)gaT>gaG	p.D401E	CPM_ENST00000546373.1_Missense_Mutation_p.D401E|CPM_ENST00000338356.3_Missense_Mutation_p.D401E	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	401					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CTGGGATAGAATCCAATTGCC	0.398000													51	80					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113169284	113169284	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:113169284G>A	ENST00000295872.4	-	15	2481	c.2222C>T	c.(2221-2223)gCt>gTt	p.A741V		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	741					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTTTCCACGAGCCTCCATACT	0.423000													40	55					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:38812783C>T	ENST00000449082.2	-	4	585	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	196					sensory perception	voltage-gated sodium channel complex		p.V196I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGTAATGACGCTAAAATCC	0.458000													18	98					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891655	18891655	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:18891655G>A	ENST00000317658.3	+	1	611	c.453G>A	c.(451-453)ttG>ttA	p.L151L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	151					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGGAGTACTTGATAGCTTGCA	0.388000													10	65					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882494	167882494	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:167882494C>T	ENST00000265293.4	+	19	3294	c.2792C>T	c.(2791-2793)tCc>tTc	p.S931F	WWC1_ENST00000521089.1_Missense_Mutation_p.S931F|WWC1_ENST00000522140.1_3'UTR	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	931	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			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)		AAGACCTTCTCCCCAGGACCC	0.642000													25	151					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242062183	242062183	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:242062183G>A	ENST00000403638.3	-	12	3127	c.3036C>T	c.(3034-3036)ttC>ttT	p.F1012F	PASK_ENST00000358649.4_Silent_p.F1012F|PASK_ENST00000539818.1_Silent_p.F796F|PASK_ENST00000405260.1_Silent_p.F1012F|PASK_ENST00000544142.1_Silent_p.F826F|PASK_ENST00000234040.4_Silent_p.F1012F	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1012	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGTCCACACGAAGCCGAAGG	0.612000													36	93					0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18499390	18499390	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:18499390G>A	ENST00000595973.1	+	3	1123	c.572G>A	c.(571-573)gGg>gAg	p.G191E	GDF15_ENST00000252809.3_Missense_Mutation_p.G191E			Q99988	GDF15_HUMAN	growth differentiation factor 15	191					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GCCGCCAGGGGGCGCCGCAGA	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67399796	67399796	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:67399796C>T	ENST00000335385.3	-	7	948	c.861G>A	c.(859-861)agG>agA	p.R287R		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	287					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TACCTTTCTCCCTGTCTGTGG	0.622000													17	106					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21897468	21897468	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:21897468G>A	ENST00000399982.2	-	2	934	c.870C>T	c.(868-870)gtC>gtT	p.V290V	CHD8_ENST00000430710.3_Silent_p.V11V|CHD8_ENST00000557364.1_Silent_p.V290V|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	290					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTGCTGGAGGACCAGGGTGA	0.478000													5	37					0	0	1	0	0
ASPN	54829	broad.mit.edu	37	9	95219762	95219762	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:95219762G>A	ENST00000375543.1	-	6	961	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	ASPN_ENST00000375544.3_Silent_p.I317I|CENPP_ENST00000375587.3_Intron	NM_001193335.1	NP_001180264.1	Q9BXN1	ASPN_HUMAN	asporin	240				GLPPTL -> DNLPSF (in Ref. 3; BAB55060).	bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						AATGAAGGAAGATTATCTGTT	0.338000													5	30					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060148	35060148	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:35060148C>T	ENST00000373913.3	+	3	508	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R10C|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R10C|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R10C			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	10					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAGCCGCCCCCGCCACCTCTC	0.716000													23	44					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493230	6493230	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:6493230G>A	ENST00000361413.3	-	18	3013	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	KIAA0753_ENST00000572370.1_Silent_p.G586G|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Silent_p.G586G|KIAA0753_ENST00000589033.1_Silent_p.G341G	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	885						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGGGAGCTCGGCCTTCTTTCT	0.512000													11	48					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179323290	179323290	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179323290C>T	ENST00000409117.3	+	5	959	c.603C>T	c.(601-603)ttC>ttT	p.F201F	DFNB59_ENST00000375129.4_Silent_p.F201F|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	201					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTATTGTTTTCCCAGCACATA	0.343000													26	86					0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39611933	39611933	+	Silent	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:39611933A>T	ENST00000223273.2	+	3	352	c.309A>T	c.(307-309)atA>atT	p.I103I	YAE1D1_ENST00000448268.1_Intron|YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	103																	TCAATAAAATAAACAATCTTC	0.368000													9	51					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110865019	110865019	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:110865019G>A	ENST00000265171.5	+	4	976	c.531G>A	c.(529-531)gaG>gaA	p.E177E	EGF_ENST00000509793.1_Silent_p.E177E|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Silent_p.E177E	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	177					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGTCTTCAGAGGTGGCTGGAA	0.433000													13	50					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72431523	72431523	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:72431523C>T	ENST00000553530.1	+	2	222	c.15C>T	c.(13-15)tcC>tcT	p.S5S	RGS6_ENST00000355512.6_Silent_p.S5S|RGS6_ENST00000553525.1_Silent_p.S5S|RGS6_ENST00000343854.6_Silent_p.S5S|RGS6_ENST00000556437.1_Silent_p.S5S|RGS6_ENST00000404301.2_Silent_p.S5S|RGS6_ENST00000407322.4_Silent_p.S5S|RGS6_ENST00000402788.2_Silent_p.S5S|RGS6_ENST00000555571.1_Silent_p.S5S|RGS6_ENST00000406236.4_Silent_p.S5S	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	5					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)		CTCAAGGATCCGGGGATCAAA	0.463000													29	45					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526081	68526081	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:68526081C>T	ENST00000433211.1	-	9	1396	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E408K|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	408					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATTTCCTTTTCCCGGCCATTC	0.433000													19	71					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204594378	204594378	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:204594378C>T	ENST00000374481.3	+	4	387	c.165C>T	c.(163-165)caC>caT	p.H55H	CD28_ENST00000458610.2_Silent_p.H153H|CD28_ENST00000374478.4_Silent_p.H20H|CD28_ENST00000324106.7_Silent_p.H139H			P10747	CD28_HUMAN	CD28 molecule	139	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CAGGGAAACACCTTTGTCCAA	0.433000													51	100					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35013211	35013211	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:35013211G>A	ENST00000310974.4	-	8	754	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	204						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CACATTACACGGGTACACTGA	0.303000													5	32					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393182	164393182	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:164393182C>T	ENST00000280605.3	-	1	1865	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	569						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGCCACCTTCCCTGTAGTGA	0.532000													45	101					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034682	16034682	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:16034682G>A	ENST00000326742.7	-	6	859	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CYP4F11_ENST00000248041.7_Silent_p.F286F|CYP4F11_ENST00000402119.3_Silent_p.F286F			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	286					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTTCTTGAGGAAATCATCAA	0.532000													48	133					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455650	5455650	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:5455650A>T	ENST00000222033.4	+	1	225	c.148A>T	c.(148-150)Aag>Tag	p.K50*		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	50						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GAGATGCCCAAAGGCCTCATG	0.692000													18	34					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135447804	135447804	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:135447804G>A	ENST00000343036.2	+	7	918	c.870G>A	c.(868-870)acG>acA	p.T290T	C9orf171_ENST00000393216.2_Silent_p.T254T	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	290										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CGTTCCCCACGGAGGCCGATC	0.627000													12	75					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57936125	57936125	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:57936125C>T	ENST00000358697.4	-	1	942	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	244					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CCCTCCGCCTCCTCCTGGGGC	0.756000													4	12					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250615	177250615	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:177250615C>T	ENST00000361539.4	+	8	2615	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		768						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTTTCAATTCTAAGCTGCCA	0.547000													7	89					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50265290	50265290	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:50265290G>A	ENST00000246801.3	-	2	452	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	124							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCGTCATCCGGATCCCAGGGT	0.632000													40	72					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950360	27950360	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:27950360G>A	ENST00000379992.2	-	6	759	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	LINGO2_ENST00000308675.3_Missense_Mutation_p.L104F	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	104						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGTTAAAGAGATTGTTGAAT	0.458000													60	64					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104579460	104579460	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:104579460G>A	ENST00000304883.2	-	2	789	c.649C>T	c.(649-651)Cct>Tct	p.P217S		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	217						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGACACTGAGGGAAGGCAAGT	0.423000													27	68					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73749091	73749091	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:73749091C>T	ENST00000276033.5	+	5	1602	c.1436C>T	c.(1435-1437)cCc>cTc	p.P479L	SLC16A2_ENST00000587091.1_Missense_Mutation_p.P405L			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	405						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	ATGATGATTCCCCTGTGCCGG	0.562000													6	51					0	0	1	0	0
ZNF367	195828	broad.mit.edu	37	9	99157137	99157137	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:99157137G>A	ENST00000375256.4	-	3	955	c.659C>T	c.(658-660)aCc>aTc	p.T220I		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	220					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				TTTCTCTCCGGTGTGAAGACG	0.398000													14	34					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48421035	48421035	+	Missense_Mutation	SNP	G	G	A	rs137962592		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:48421035G>A	ENST00000296438.5	+	7	947	c.761G>A	c.(760-762)cGt>cAt	p.R254H	FBXW12_ENST00000436231.1_Missense_Mutation_p.R97H|FBXW12_ENST00000415155.1_Missense_Mutation_p.R184H|FBXW12_ENST00000445170.1_Missense_Mutation_p.R235H	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	254										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACATACAGTCGTACCTTGCCA	0.418000													15	173					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133246	64133246	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:64133246G>A	ENST00000295902.6	-	7	1505	c.920C>T	c.(919-921)tCa>tTa	p.S307L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S363L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	307	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCAGGCCCGTGAGCAGAATAT	0.592000													33	110					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166986936	166986936	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:166986936C>T	ENST00000061240.2	+	16	2756	c.2109C>T	c.(2107-2109)tcC>tcT	p.S703S	TLL1_ENST00000507499.1_Silent_p.S726S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	703	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGATCACATCCCAGTTCAACA	0.393000													24	91					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106484	90106484	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:90106484C>T	ENST00000405460.2	+	74	15503	c.15407C>T	c.(15406-15408)tCc>tTc	p.S5136F	GPR98_ENST00000425867.2_Missense_Mutation_p.S797F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5136					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S5136F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGATATTTCCTTCCCCGAG	0.433000													20	192					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602772	96602772	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:96602772C>T	ENST00000371321.3	+	7	1222	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	380					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAACTACCTCATTCCCAAGG	0.468000													16	64					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695261	109695261	+	Silent	SNP	T	T	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:109695261T>G	ENST00000465301.2	+	3	1662	c.1416T>G	c.(1414-1416)acT>acG	p.T472T	RGAG1_ENST00000540313.1_Silent_p.T472T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	472										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGCCAAAACTTCTGGAGCAA	0.512000													48	207					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1245554	1245554	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:1245554C>T	ENST00000348261.5	+	4	782	c.534C>T	c.(532-534)atC>atT	p.I178I	CACNA1H_ENST00000358590.4_Silent_p.I178I|CACNA1H_ENST00000565831.1_Silent_p.I178I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	178					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ATTTCTTCATCGTCGTGGCGG	0.607000													3	4					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49845809	49845809	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:49845809G>A	ENST00000377214.4	-	10	1487	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	TEAD2_ENST00000601519.1_Silent_p.Y375Y|TEAD2_ENST00000311227.2_Silent_p.Y372Y|TEAD2_ENST00000593945.1_Silent_p.Y376Y|TEAD2_ENST00000539846.1_Silent_p.Y244Y|TEAD2_ENST00000598810.1_Silent_p.Y376Y			Q15562	TEAD2_HUMAN	TEA domain family member 2	372	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GCAGCAGGCGGTACACAAATC	0.582000													19	46					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151023931	151023931	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:151023931C>T	ENST00000296550.7	+	2	1477	c.723C>T	c.(721-723)gtC>gtT	p.V241V	DCLK2_ENST00000506325.1_Silent_p.V241V|DCLK2_ENST00000302176.8_Silent_p.V241V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	241	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTCAGGAGTCGTCAAGAGGC	0.463000													10	45					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62121441	62121441	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:62121441G>A	ENST00000433197.2	-	22	2936	c.2841C>T	c.(2839-2841)gcC>gcT	p.A947A		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	947	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ACAGCTCCATGGCCCGGTAGG	0.657000													31	72					0	0	1	0	0
RBM38	55544	broad.mit.edu	37	20	55982761	55982761	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:55982761C>T	ENST00000356208.5	+	4	754	c.579C>T	c.(577-579)gcC>gcT	p.A193A	RBM38_ENST00000371219.2_Silent_p.A112A|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	193					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			ACCCATACGCCGCCTCGCCTG	0.701000													13	29					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26346369	26346369	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:26346369C>T	ENST00000335473.7	+	37	6035	c.5785C>T	c.(5785-5787)Ctg>Ttg	p.L1929L	MYO18B_ENST00000407587.2_Silent_p.L1930L|MYO18B_ENST00000536101.1_Silent_p.L1929L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1929	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAACTGCAGCTGCAGCTGGA	0.458000													5	7					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111935541	111935541	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:111935541C>T	ENST00000375741.2	+	17	2094	c.1844C>T	c.(1843-1845)cCg>cTg	p.P615L	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P522L|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P437L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P437L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P512L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P437L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P594L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P359L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P565L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P437L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	615					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)			AAGCCCGCGCCGCTGACGCCC	0.682000													3	6					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542545	12542545	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:12542545C>T	ENST00000301547.5	-	4	638	c.441G>A	c.(439-441)ggG>ggA	p.G147G	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	147					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TGAAGGCTTTCCCACGTTGTT	0.418000													45	81					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149245817	149245817	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:149245817C>T	ENST00000255266.5	-	20	2394		c.e20-1			NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha						cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCATCATGGGCTGTCATGGGG	0.428000													5	63					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40343104	40343104	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:40343104G>A	ENST00000301671.8	-	5	1455	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	GHDC_ENST00000436923.2_Silent_p.L338L|GHDC_ENST00000593209.1_Silent_p.L338L|GHDC_ENST00000414034.3_Silent_p.L338L|GHDC_ENST00000587427.1_Silent_p.L338L|GHDC_ENST00000428494.2_Silent_p.L299L			Q8N2G8	GHDC_HUMAN	GH3 domain containing	338						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CGGCCAAAAGGAGGGTGGAGG	0.657000													15	82					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152542	66152542	+	RNA	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:66152542C>T	ENST00000489520.2	-	0	401					NR_026825.2																						GCCAGTATTCCTGGAGGATAT	0.502000													10	22					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121491519	121491519	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:121491519G>A	ENST00000310864.6	-	14	1666	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	IQCB1_ENST00000349820.6_Silent_p.A351A	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	484					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTTGAGCTTGGGCATGGAGCT	0.517000													13	130					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128247	83128247	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:83128247C>T	ENST00000329312.4	+	4	568	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	177					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGTCAAAATCCAGTTCAGAAA	0.313000													9	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82508686	82508686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:82508686C>T	ENST00000423517.2	-	10	13958	c.13621G>A	c.(13621-13623)Gga>Aga	p.G4541R	PCLO_ENST00000333891.8_Missense_Mutation_p.G4541R|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCGCACTTCCCCCAGGAAGA	0.358000													9	27					0	0	1	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75044431	75044431	+	RNA	SNP	C	C	T	rs236650	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:75044431C>T	ENST00000393633.2	+	0	3599																				large_intestine(1)|lung(1)	2						GCTGGACCCCCGCCAGGCTCC	0.632000													5	63					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373155	126373155	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:126373155C>T	ENST00000394329.3	+	9	10997	c.10984C>T	c.(10984-10986)Cca>Tca	p.P3662S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1960S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3662					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						CTTCAGTATTCCAGGGGGTAC	0.507000													11	99					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223165399	223165399	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:223165399A>G	ENST00000284476.6	+	6	1000	c.836A>G	c.(835-837)aAa>aGa	p.K279R	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	279					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAAAGAGAGAAAAGAGAAGTT	0.403000													5	40					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57713204	57713204	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:57713204C>T	ENST00000333493.4	+	5	769	c.608C>T	c.(607-609)tCt>tTt	p.S203F	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Missense_Mutation_p.S83F	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	203					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCGTCTTCTCTCACCAGCGA	0.637000													16	81					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36241700	36241700	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:36241700C>T	ENST00000540320.1	+	56	9125	c.8591C>T	c.(8590-8592)tCa>tTa	p.S2864L	NBEA_ENST00000379939.2_Missense_Mutation_p.S2861L|NBEA_ENST00000310336.4_Missense_Mutation_p.S2864L|NBEA_ENST00000537702.1_Missense_Mutation_p.S657L|NBEA_ENST00000379922.3_Missense_Mutation_p.S442L|NBEA_ENST00000400445.3_Missense_Mutation_p.S2864L			Q8NFP9	NBEA_HUMAN	neurobeachin	2864						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATCAATGATTCAACACGGGTA	0.373000													39	113					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077474	79077474	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:79077474C>T	ENST00000321300.6	+	8	908	c.815C>T	c.(814-816)cCg>cTg	p.P272L	BAIAP2_ENST00000428708.2_Missense_Mutation_p.P272L|BAIAP2_ENST00000416299.2_Missense_Mutation_p.P135L|BAIAP2_ENST00000575245.1_Missense_Mutation_p.P305L|BAIAP2_ENST00000321280.7_Missense_Mutation_p.P272L|BAIAP2_ENST00000392411.3_Missense_Mutation_p.P194L|BAIAP2_ENST00000575712.1_Missense_Mutation_p.P272L|BAIAP2_ENST00000435091.3_Missense_Mutation_p.P272L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	272					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GACCCCATTCCGGGGGCCAAG	0.697000													16	42					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37076681	37076681	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:37076681G>A	ENST00000263918.4	-	18	2269	c.2261C>T	c.(2260-2262)tCg>tTg	p.S754L	STRN_ENST00000379213.2_Missense_Mutation_p.S705L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	754					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ATCATGAATCGATTCTTCAAA	0.393000													23	65					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330037	138330037	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:138330037G>A	ENST00000409968.1	+	17	3512	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E1084K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1115K|THSD7B_ENST00000543459.1_Intron					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)		CAACCAGGATGAAATTCCCCC	0.448000													12	28					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178203	223178203	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:223178203C>T	ENST00000284476.6	+	8	3628	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1155					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTGCCTTTTCCCATGCCTTG	0.473000													29	48					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73562536	73562536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:73562536C>T	ENST00000339362.5	+	18	3127	c.2680C>T	c.(2680-2682)Cga>Tga	p.R894*	NEO1_ENST00000560262.1_Nonsense_Mutation_p.R894*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.R894*|NEO1_ENST00000558964.1_Nonsense_Mutation_p.R894*			Q92859	NEO1_HUMAN	neogenin 1	894	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTACACCGTCCGATGGAAAAC	0.453000													26	72					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153038448	153038448	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:153038448C>T	ENST00000538966.1	+	18	3223	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F	PLXNB3_ENST00000538776.1_Silent_p.F614F|PLXNB3_ENST00000361971.5_Silent_p.F961F|PLXNB3_ENST00000538282.1_Silent_p.F571F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	961	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGCCTTCGTGGGTGGCC	0.657000													8	18					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169206021	169206021	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:169206021G>A	ENST00000393743.3	-	12	1802	c.1511C>T	c.(1510-1512)tCt>tTt	p.S504F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	504							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GGGTTTATGAGAATGCCAGTG	0.368000													15	50					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39931233	39931233	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:39931233G>A	ENST00000281961.2	+	2	469	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		ATTGCGCAGCGATGCACGGCC	0.448000													23	29					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51138512	51138512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:51138512G>A	ENST00000301180.5	+	38	4655	c.4621G>A	c.(4621-4623)Gac>Aac	p.D1541N		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1541						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGTTGTGGTGGACCCAGGTGT	0.547000													10	53					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103380274	103380274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:103380274G>A	ENST00000358392.2	-	51	4263	c.3946C>T	c.(3946-3948)Cct>Tct	p.P1316S	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1188S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1304S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1265S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1304	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTACCCTTAGGGCCATCATCA	0.512000													3	25					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872299	189872299	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:189872299G>A	ENST00000304636.3	+	45	3499	c.3329G>A	c.(3328-3330)gGa>gAa	p.G1110E	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1110	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGACATCGAGGATTCCCTGGT	0.428000													5	15					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759222	121759222	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:121759222A>G	ENST00000261367.7	+	6	2359	c.931A>G	c.(931-933)Agt>Ggt	p.S311G	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S311G|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S264G|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S311G|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S264G			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	264					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAAGACATTTAGTGATCCTCA	0.473000													4	54					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835492	247835492	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:247835492C>T	ENST00000359688.2	-	1	873	c.852G>A	c.(850-852)ccG>ccA	p.P284P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTACACCATCGGGTTTAATG	0.438000													27	145					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12937851	12937851	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:12937851A>G	ENST00000218032.6	+	2	779	c.692A>G	c.(691-693)aAc>aGc	p.N231S	TLR8_ENST00000311912.5_Missense_Mutation_p.N249S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	231					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTTCTGAGCAACACCCAGATC	0.413000													8	163					0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249517	119249517	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:119249517C>T	ENST00000217999.2	-	1	330	c.256G>A	c.(256-258)Gag>Aag	p.E86K	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	86					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GCCGGCTCCTCCGGCGGGGGC	0.692000													34	57					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440152	135440152	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:135440152T>C	ENST00000443774.1	-	1	144	c.95A>G	c.(94-96)aAg>aGg	p.K32R	FRG2B_ENST00000425520.1_Missense_Mutation_p.K32R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	32						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATCTGAGCCCTTTTCTGTAAA	0.502000													6	102					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819306	50819306	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:50819306G>A	ENST00000374115.3	+	1	960	c.520G>A	c.(520-522)Gac>Aac	p.D174N	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	174					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTTCGCCGAGGACTACGCCAC	0.652000													21	26					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46944857	46944857	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:46944857C>T	ENST00000449590.1	+	16	1696	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	PTH1R_ENST00000430002.2_Missense_Mutation_p.P498L|PTH1R_ENST00000313049.5_Missense_Mutation_p.P498L|PTH1R_ENST00000418619.1_Missense_Mutation_p.P498L	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	498						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						AGCTACGGCCCCATGGTGTCC	0.622000													10	34					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25966697	25966697	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:25966697C>T	ENST00000435504.4	-	13	2802	c.2509G>A	c.(2509-2511)Ggt>Agt	p.G837S	ASXL2_ENST00000404843.1_Splice_Site_p.G577_splice|ASXL2_ENST00000336112.4_Missense_Mutation_p.G809S|ASXL2_ENST00000272341.4_Splice_Site_p.G577_splice			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCAGGACCTGTTGGAGAA	0.517000													49	171					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158224719	158224719	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:158224719C>T	ENST00000296526.7	+	3	570	c.245C>T	c.(244-246)tCg>tTg	p.S82L	GRIA2_ENST00000449365.1_Missense_Mutation_p.S35L|GRIA2_ENST00000507898.1_Missense_Mutation_p.S35L|GRIA2_ENST00000393815.2_Missense_Mutation_p.S35L|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000264426.9_Missense_Mutation_p.S82L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	82					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.S82L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCCCAGTTTTCGAGAGGAGTC	0.368000													17	59					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127677213	127677213	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:127677213G>T	ENST00000368695.1	+	3	389	c.267G>T	c.(265-267)gaG>gaT	p.E89D	FANK1_ENST00000368689.1_Missense_Mutation_p.E89D|FANK1_ENST00000449042.2_Missense_Mutation_p.E89D|FANK1_ENST00000368693.1_Missense_Mutation_p.E95D	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	95	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GGGAGTGTGAGTACAGCCCAC	0.488000													57	59					5.0973e-17	5.24361e-17	1	1	0
TNR	7143	broad.mit.edu	37	1	175360568	175360568	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:175360568C>T	ENST00000367674.1	-	7	2071	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	TNR_ENST00000263525.2_Missense_Mutation_p.E455K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	455	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTCCCCCTTCATTGTTCTGG	0.468000													11	25					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025445	16025445	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:16025445G>A	ENST00000402119.3	-	10	1707	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	CYP4F11_ENST00000248041.7_Silent_p.I427I|CYP4F11_ENST00000326742.7_Intron	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	427					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGTTGTAATGGATCCCGATAA	0.567000													25	78					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670677	55670677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:55670677G>T	ENST00000527223.2	-	12	1581	c.1580C>A	c.(1579-1581)tCa>tAa	p.S527*	CTD-2587H24.4_ENST00000587871.1_Silent_p.I121I|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000455045.1_Nonsense_Mutation_p.S406*|DNAAF3_ENST00000391720.4_Nonsense_Mutation_p.S507*|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Nonsense_Mutation_p.S460*	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	460																	GCCCAGAGCTGATTCCTGGGA	0.622000													11	32					3.86212e-05	3.91012e-05	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995620	140995620	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:140995620C>T	ENST00000285879.4	+	4	2716	c.2430C>T	c.(2428-2430)ctC>ctT	p.L810L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	810							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTCCTCTCCAGAGTCCTG	0.552000										HNSCC(15;0.026)			120	317					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821284	5821284	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:5821284C>T	ENST00000381095.3	-	5	2062	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	NLGN4X_ENST00000381092.1_Missense_Mutation_p.E479K|NLGN4X_ENST00000275857.6_Missense_Mutation_p.E479K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.E499K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.E479K	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	479					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGCTTCATTTCGCTTTGGCAG	0.602000													24	107					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059676	248059676	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:248059676G>A	ENST00000537741.1	+	3	1045	c.788G>A	c.(787-789)gGa>gAa	p.G263E	OR2W3_ENST00000360358.3_Missense_Mutation_p.G263E			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGCAGCCAGGAGCCAGTTCT	0.527000													20	154					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020129	56020129	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:56020129C>T	ENST00000303059.3	+	1	454	c.454C>T	c.(454-456)Cac>Tac	p.H152Y		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGCTTATGATCACTATGTAGC	0.408000													59	132					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611986	17611986	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:17611986G>A	ENST00000381869.3	-	2	1804	c.1331C>T	c.(1330-1332)cCg>cTg	p.P444L	MTUS1_ENST00000262102.6_Missense_Mutation_p.P444L|MTUS1_ENST00000381862.3_Missense_Mutation_p.P444L|MTUS1_ENST00000519263.1_Missense_Mutation_p.P444L	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	444						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CGCTTCAATCGGTGAAACAGA	0.448000													45	141					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172571559	172571559	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:172571559C>T	ENST00000231668.9	+	1	115	c.11C>T	c.(10-12)cCc>cTc	p.P4L	BNIP1_ENST00000393770.4_Missense_Mutation_p.P4L|BNIP1_ENST00000351486.5_Missense_Mutation_p.P4L|CTC-209H22.3_ENST00000521251.1_RNA|BNIP1_ENST00000352523.6_Missense_Mutation_p.P4L	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	4					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGGCGGCTCCCCAAGACGTC	0.612000											OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158114551	158114551	+	Translation_Start_Site	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:158114551A>T	ENST00000259056.4	+	0	442					NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)						glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CACTCAAGGTAAGCAGGCTAA	0.537000													19	48					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886864	227886864	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:227886864C>T	ENST00000396625.3	-	44	4323	c.4116G>A	c.(4114-4116)gtG>gtA	p.V1372V	COL4A4_ENST00000329662.7_Silent_p.V1369V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1372	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACAGTCATCCACATCTGCAG	0.567000													47	248					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839262	100839262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:100839262C>T	ENST00000379423.3	-	6	848	c.788G>A	c.(787-789)tGg>tAg	p.W263*	MOGAT3_ENST00000223114.4_Missense_Mutation_p.G331R|MOGAT3_ENST00000440203.2_3'UTR			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGGGGACCCCACAGCTTTCC	0.642000													24	72					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306718	54306718	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:54306718G>A	ENST00000545554.1	+	1	1618	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D540N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D540N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	540					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCACAGAGTGATTTTTTCAC	0.368000													16	48					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52723474	52723474	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:52723474C>T	ENST00000322088.6	+	11	1393	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	PPP2R1A_ENST00000444322.2_Silent_p.S390S|PPP2R1A_ENST00000462990.1_Silent_p.S266S	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	445	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AACTTAACTCCTTGTGCATGG	0.537000			Mis		clear cell ovarian carcinoma								29	110					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729389	62729389	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:62729389C>T	ENST00000349451.3	+	5	880	c.468C>T	c.(466-468)atC>atT	p.I156I	OPRL1_ENST00000355631.4_Silent_p.I156I|OPRL1_ENST00000336866.2_Silent_p.I156I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	156					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCACCCCATCCGTGCCCTCG	0.572000													46	94					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889240	18889240	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:18889240C>T	ENST00000266505.7	-	3	313	c.50G>A	c.(49-51)gGa>gAa	p.G17E	PLCZ1_ENST00000447925.2_Missense_Mutation_p.G15E|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G15E|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G17E			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	17					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTTAATTTTTCCACCTCTGAA	0.308000													9	24					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40343053	40343053	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:40343053G>A	ENST00000301671.8	-	5	1506	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	GHDC_ENST00000436923.2_Silent_p.D355D|GHDC_ENST00000593209.1_Silent_p.D355D|GHDC_ENST00000414034.3_Silent_p.D355D|GHDC_ENST00000587427.1_Silent_p.D355D|GHDC_ENST00000428494.2_Silent_p.D316D			Q8N2G8	GHDC_HUMAN	GH3 domain containing	355						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGCTGGCGCGGTCCGTCAGCA	0.657000													15	68					0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68055781	68055781	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:68055781G>A	ENST00000332395.5	-	1	1989	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	442	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CTTCTGGAAGGACTGGAAGAT	0.512000													31	34					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101818843	101818843	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:101818843C>T	ENST00000263468.8	+	4	746	c.476C>T	c.(475-477)cCc>cTc	p.P159L		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	159							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GTAAACCTTCCCTTTTCCCGT	0.343000													11	25					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559510	140559510	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140559510G>A	ENST00000239444.2	+	1	2140	c.1895G>A	c.(1894-1896)aGc>aAc	p.S632N		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		632	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCTGCTGAGCGAGCGCGAC	0.687000													12	127					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295927	120295927	+	Nonsense_Mutation	SNP	G	G	A	rs137852637		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:120295927G>A	ENST00000369406.3	-	7	1319	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	HMGCS2_ENST00000544913.2_Nonsense_Mutation_p.R382*	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	424					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGGGATACTCGAAATGAAAAG	0.478000													14	15					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896482	77896482	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:77896482C>T	ENST00000262198.4	+	4	3641	c.3186C>T	c.(3184-3186)ttC>ttT	p.F1062F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1062					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAGATTATTTCCATAAGAAAC	0.338000													23	49					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723898	99723898	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:99723898C>T	ENST00000345514.2	-	2	603	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	BCL11B_ENST00000357195.3_Missense_Mutation_p.V113M|BCL11B_ENST00000443726.2_Intron	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	512						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGATCTCCACCGGCTCGGAC	0.612000			T	TLX3	T-ALL								9	82					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9516192	9516192	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:9516192G>A	ENST00000402466.1	+	22	4031	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	SETD5_ENST00000302463.6_Missense_Mutation_p.R1088Q|SETD5_ENST00000407969.1_Missense_Mutation_p.R1205Q|SETD5_ENST00000402198.1_Missense_Mutation_p.R1186Q|SETD5_ENST00000406341.1_Missense_Mutation_p.R1186Q			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1186										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAGGTCCTCCGAAGCAGCGTG	0.562000													37	90					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307480	140307480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140307480G>A	ENST00000253807.2	+	1	1003	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D335N|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGTGAACGATCATGCCCC	0.532000													87	89					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328601	152328601	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:152328601G>A	ENST00000388718.5	-	3	1733	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	554	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATAGCCAGATGATTGACT	0.498000													146	642					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647693	179647693	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179647693G>A	ENST00000589042.1	-	18	3164	c.2940C>T	c.(2938-2940)gaC>gaT	p.D980D	TTN_ENST00000342175.6_Silent_p.D934D|TTN_ENST00000591111.1_Silent_p.D980D|TTN_ENST00000359218.5_Silent_p.D934D|TTN_ENST00000360870.5_Silent_p.D980D|TTN_ENST00000460472.2_Silent_p.D934D|TTN_ENST00000342992.6_Silent_p.D980D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	980	Ig-like 3.						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)			CGATTTGGTAGTCTTCCCTGT	0.468000													23	78					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:22382594G>A	ENST00000328795.4	+	1	213	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000													79	463					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170043353	170043353	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:170043353G>A	ENST00000284637.9	-	7	1585	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	415						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGTGGCGCCTGGTGGTGTGGA	0.567000													11	26					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602855	37602855	+	Silent	SNP	C	C	T	rs141312847		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:37602855C>T	ENST00000399151.3	+	14	1858	c.1773C>T	c.(1771-1773)atC>atT	p.I591I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	591					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACAGTGGGATCGGGCTCAGTG	0.522000													56	94					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437956	125437956	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:125437956C>T	ENST00000304820.2	+	1	642	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GATGTCAACCCTGTGCTGAAA	0.448000													21	232					0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43515648	43515648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:43515648G>A	ENST00000338702.3	+	1	182	c.59G>A	c.(58-60)gGa>gAa	p.G20E	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	20					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	p.G20E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GTCGTGATCGGAGGTGGCATT	0.602000													14	43					0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75690133	75690133	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:75690133T>A	ENST00000300086.4	+	3	921	c.824T>A	c.(823-825)aTa>aAa	p.I275K		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	275	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GATTTTGAAATACATATAACT	0.408000													10	57					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39780994	39780994	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:39780994C>T	ENST00000518237.1	+	7	1183	c.544C>T	c.(544-546)Cct>Tct	p.P182S	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.P182S	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	182					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TTAGGTAATTCCTACTGTATT	0.378000													3	18					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807848	20807848	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:20807848G>A	ENST00000601440.1	-	4	981	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTTTCCGTATGAATTATCTCA	0.383000													12	96					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24169111	24169111	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:24169111C>T	ENST00000396671.2	-	10	1371	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	THRB_ENST00000416420.1_Silent_p.L341L|THRB_ENST00000356447.4_Silent_p.L341L|THRB_ENST00000280696.5_Silent_p.L356L	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	341	Interaction with NR2F6.|Ligand-binding.		L -> P (in GTHR).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCCATTTTTCAGCTGGCCCC	0.537000													19	166					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328097	80328097	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:80328097G>A	ENST00000358842.3	-	1	1275	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	420					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.R420C(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGCAAATGACGAAGTGGAATT	0.393000													40	82					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741442	48741442	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:48741442G>A	ENST00000285238.8	+	10	1388	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	ABCC3_ENST00000427699.1_Silent_p.Q436Q	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	436	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CACCCCTGCAGATCATCCTGG	0.557000													48	95					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217822300	217822300	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:217822300C>T	ENST00000366933.4	+	2	200	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	49	IQ 1.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATGTCAAGTTCGGGCATATAT	0.308000													20	42					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24259437	24259437	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:24259437C>T	ENST00000538205.1	+	13	1462	c.915C>T	c.(913-915)ttC>ttT	p.F305F	ADAMDEC1_ENST00000256412.4_Silent_p.F384F|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.F305F	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	384	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			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)		GTTCAAAATTCCCAAAGGATT	0.363000													5	49					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745120	73745120	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:73745120G>A	ENST00000200181.3	+	27	3497	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	ITGB4_ENST00000450894.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000449880.2_Missense_Mutation_p.D1104N|ITGB4_ENST00000339591.3_Missense_Mutation_p.D1104N|ITGB4_ENST00000579662.1_Missense_Mutation_p.D1104N	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1104					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCATCAGGGACCCAGGTAG	0.617000													12	21					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43002250	43002250	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:43002250A>G	ENST00000428554.2	+	9	1238	c.95A>G	c.(94-96)aAg>aGg	p.K32R	CCDC30_ENST00000342022.4_Missense_Mutation_p.K32R|CCDC30_ENST00000340612.4_Missense_Mutation_p.K32R|CCDC30_ENST00000507855.1_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	32										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ACTGCAGAGAAGGCCTTGAAA	0.363000													12	119					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124765453	124765453	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:124765453G>A	ENST00000306534.3	-	6	1421	c.936C>T	c.(934-936)ggC>ggT	p.G312G	ROBO4_ENST00000533054.1_Silent_p.G167G	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	312	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCCAGTGGAGGCCTCCAAGCT	0.652000													21	36					0	0	1	0	0
NAA40	79829	broad.mit.edu	37	11	63706495	63706495	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:63706495G>A	ENST00000377793.4	+	0	28				NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000456907.2_De_novo_Start_OutOfFrame|NAA40_ENST00000539656.1_De_novo_Start_OutOfFrame	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit								N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						tgccgccgctgttgcagccac	0.721000													8	9					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112648052	112648052	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:112648052G>A	ENST00000550722.1	-	50	7591	c.7196C>T	c.(7195-7197)aCc>aTc	p.T2399I	HECTD4_ENST00000430131.2_Missense_Mutation_p.T2123I|HECTD4_ENST00000377560.5_Missense_Mutation_p.T2373I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCGGGTTTTGGTGTTCTGGAA	0.512000													36	104					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64212974	64212974	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:64212974G>A	ENST00000205948.6	-	6	753	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	239	Sushi 4.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCCATCCAGAGAATATCCATC	0.433000													42	87					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765571	113765571	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:113765571G>A	ENST00000259211.6	+	4	838	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	143					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCTTACCCAAGAACTGGGGAA	0.498000													27	58					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707690	96707690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:96707690G>A	ENST00000260682.6	+	4	648	c.636G>A	c.(634-636)tgG>tgA	p.W212*		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	212					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			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)	GCAGCCCCTGGATCCAGGTAA	0.348000													27	46					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43280578	43280578	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:43280578A>T	ENST00000512796.1	+	4	2557	c.1058A>T	c.(1057-1059)gAa>gTa	p.E353V	NIM1_ENST00000326035.2_Missense_Mutation_p.E353V			Q8IY84	NIM1_HUMAN		353							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CTCAAGGAAGAAGAAAATGAG	0.448000													26	143					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123907182	123907182	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:123907182G>A	ENST00000373855.1	+	21	3373	c.3113G>A	c.(3112-3114)cGa>cAa	p.R1038Q	CNTRL_ENST00000238341.5_Missense_Mutation_p.R1038Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.R486Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.R486Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1038					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GATCTCACCCGAGCAGAAGCT	0.527000													24	82					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112940451	112940451	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:112940451C>T	ENST00000331203.2	+	6	1025	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	FBLN7_ENST00000409903.1_Missense_Mutation_p.R252C|FBLN7_ENST00000409450.3_Missense_Mutation_p.R206C|FBLN7_ENST00000409667.3_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	252	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	p.R252S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGCTCTTACCGTTGCACCTG	0.637000													23	57					0	0	1	0	0
AKAP14	158798	broad.mit.edu	37	X	119054534	119054534	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:119054534C>T	ENST00000371431.3	+	7	832	c.558C>T	c.(556-558)ttC>ttT	p.F186F	AKAP14_ENST00000491105.1_3'UTR|AKAP14_ENST00000371425.4_Silent_p.F126F|AKAP14_ENST00000371423.2_Silent_p.F127F|AKAP14_ENST00000334356.2_Silent_p.F126F	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	186						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AATATAGTTTCATGGAGTCAT	0.353000													16	43					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50125781	50125781	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:50125781C>T	ENST00000281631.5	+	22	2377	c.2219C>T	c.(2218-2220)tCa>tTa	p.S740L	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.S451L|PARP8_ENST00000505554.1_Missense_Mutation_p.S719L|PARP8_ENST00000514067.2_Missense_Mutation_p.S698L|PARP8_ENST00000503750.2_Missense_Mutation_p.S698L|PARP8_ENST00000505697.2_Missense_Mutation_p.S740L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	740	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCAAGCATATCATTTGGTTAC	0.353000													13	66					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2827652	2827652	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:2827652C>T	ENST00000317243.5	+	3	362	c.164C>T	c.(163-165)tCc>tTc	p.S55F	ZNF554_ENST00000591265.1_Missense_Mutation_p.S55F	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGACTTCTCCCAGGAGGAG	0.537000													17	69					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143749	56143749	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:56143749C>T	ENST00000302270.1	+	1	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GTCTTTGTCTCCTACATGTTC	0.488000													28	84					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:48346753C>T	ENST00000319856.4	+	1	282	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTATTTTTTCCTGGCCAACC	0.453000													10	115					0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37139092	37139092	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:37139092C>T	ENST00000373509.5	+	4	805	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	235	Protein kinase.		Y -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGGAGCTGGCCCGCAGCTTCT	0.612000			T	BCL6	NHL								56	99					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280647	152280647	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:152280647G>A	ENST00000368799.1	-	3	6750	c.6715C>T	c.(6715-6717)Cgg>Tgg	p.R2239W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2239	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)			CTGGATCCCCGGGGCCTGCTT	0.577000									Ichthyosis				41	596					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205886448	205886448	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:205886448G>A	ENST00000367135.3	-	20	2404	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	SLC26A9_ENST00000367134.2_Missense_Mutation_p.S764L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S764L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	764						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTCCTCCTCTGAGTCGTACAA	0.587000													63	288					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524362	55524362	+	Silent	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:55524362G>T	ENST00000305377.5	+	1	898	c.810G>T	c.(808-810)ctG>ctT	p.L270L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GCTCTCACCTGGGAGTTGTGA	0.423000													13	110					0.000151284	0.000152133	1	1	0
MRC2	9902	broad.mit.edu	37	17	60754833	60754833	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:60754833C>T	ENST00000303375.5	+	12	2440	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	680	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CACCAAACTCCGGTATTGCTA	0.662000													3	23					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325344	9325344	+	Missense_Mutation	SNP	G	G	A	rs149523827		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:9325344G>A	ENST00000308682.2	-	1	198	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GTACATGGGGGTGTGGAGGTG	0.557000													48	79					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139311	178139311	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:178139311C>T	ENST00000335815.2	-	5	1765	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	523					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		TTCCTCACATCGATATGGTTT	0.388000													28	105					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591825	46591825	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:46591825C>T	ENST00000398637.5	-	15	1835	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	SLC38A1_ENST00000552197.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000549049.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E381K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	381					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTAGCCAGTTCAAATAAAGAT	0.368000													6	23					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133644	22133644	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:22133644C>T	ENST00000408935.1	+	1	348	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCTGCTGATCATTGTGGCGT	0.453000													36	138					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997885	115997885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:115997885C>T	ENST00000264363.2	-	2	986	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	103	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTACTGAAATCGGCTGGACTC	0.408000													28	53					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365660	46365660	+	Missense_Mutation	SNP	G	G	A	rs116489181	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:46365660G>A	ENST00000359930.4	-	3	1053	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Missense_Mutation_p.R68W|SULF2_ENST00000484875.1_Missense_Mutation_p.R68W|SULF2_ENST00000361612.4_Missense_Mutation_p.R68W	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	68					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGATGCGCCGGGTCTTGTTC	0.637000													25	56					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980842	121980842	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:121980842C>T	ENST00000498619.1	+	4	1398	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_ENST00000490131.1_Silent_p.F320F|CASR_ENST00000296154.5_Silent_p.F320F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	320					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)	CCATTGGATTCGCTCTGAAGG	0.577000													20	50					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004063	187004063	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:187004063C>T	ENST00000296795.2	+	4	1327	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	TLR3_ENST00000504367.1_Missense_Mutation_p.P131L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	408					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GCTCATTCTCCCTTACACATA	0.373000													12	28					0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97319244	97319244	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:97319244C>T	ENST00000216639.3	+	6	600	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	151	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AAGGTTTTCTCGGAAAACTGT	0.338000													4	37					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20153262	20153262	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:20153262C>T	ENST00000263754.4	+	6	1481	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	342					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GAACTCTAATCCTCACTCATT	0.423000													12	36					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115319105	115319105	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:115319105C>T	ENST00000357872.4	+	2	941	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		273					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TTATGTGGCCCTTTCCAACAT	0.368000													20	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179528071	179528071	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179528071C>T	ENST00000589042.1	-	173	36846	c.36622G>A	c.(36622-36624)Gag>Aag	p.E12208K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10356	Ig-like 81.						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)			TTTGGCACCTCTGGGACTTTA	0.418000													26	70					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54403620	54403620	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:54403620G>A	ENST00000566473.2	+	3	101	c.101G>A	c.(100-102)aGc>aAc	p.S34N	ANKFN1_ENST00000318698.2_Missense_Mutation_p.S34N			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	34										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAGAGGCTGAGCCACAGGAGA	0.438000													33	76					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999725	72999725	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:72999725C>T	ENST00000322038.5	+	2	2812	c.2228C>T	c.(2227-2229)cCc>cTc	p.P743L	TSHZ1_ENST00000580243.1_Missense_Mutation_p.P788L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	788						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCGGTGTACCCCGCCACCCCT	0.587000													24	32					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75102049	75102049	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:75102049G>A	ENST00000326665.5	-	6	736	c.518C>T	c.(517-519)cCt>cTt	p.P173L		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	173										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						TTCTACTGCAGGATTACTGGG	0.418000													30	242					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137917887	137917887	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:137917887G>A	ENST00000409968.1	+	6	1652	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	THSD7B_ENST00000413152.2_Missense_Mutation_p.A461T|THSD7B_ENST00000272643.3_Missense_Mutation_p.A492T|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron					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)		TTCCTGGTCAGCCTGGGGCCT	0.512000													9	61					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58131696	58131696	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:58131696C>T	ENST00000357272.4	+	33	5639	c.5474C>T	c.(5473-5475)tCt>tTt	p.S1825F	FLNB_ENST00000295956.4_Missense_Mutation_p.S1825F|FLNB_ENST00000429972.2_Missense_Mutation_p.S1814F|FLNB_ENST00000493452.1_Missense_Mutation_p.S1632F|FLNB_ENST00000348383.5_Missense_Mutation_p.S1825F|FLNB_ENST00000358537.3_Missense_Mutation_p.S1801F|FLNB_ENST00000419752.2_Missense_Mutation_p.S1645F|FLNB_ENST00000490882.1_Missense_Mutation_p.S1856F			O75369	FLNB_HUMAN	filamin B, beta	1825					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)		GGAAGTGTTTCTGCATACGGT	0.502000													52	96					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507821	1507821	+	Missense_Mutation	SNP	G	G	A	rs145974595		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:1507821G>A	ENST00000345913.4	+	14	2579	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	TPO_ENST00000382198.1_Missense_Mutation_p.E657K|TPO_ENST00000337415.3_Missense_Mutation_p.E830K|TPO_ENST00000329066.4_Missense_Mutation_p.E830K|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.E773K|TPO_ENST00000346956.3_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.E657K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	830	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGACCCCTACGAGTTAGGAGA	0.562000													30	44					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157920882	157920882	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:157920882C>T	ENST00000295930.3	+	4	504	c.342C>T	c.(340-342)ctC>ctT	p.L114L	RSRC1_ENST00000480820.1_Silent_p.L114L|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000475278.2_Silent_p.L114L|RSRC1_ENST00000464171.1_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	114	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GACCTCGTCTCCGTTCTCATA	0.403000													3	28					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580499	140580499	+	Silent	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140580499C>A	ENST00000354757.3	+	1	1152	c.1152C>A	c.(1150-1152)tcC>tcA	p.S384S	PCDHB11_ENST00000536699.1_Silent_p.S19S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		384	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTTTGTTCCATTCCGGAAG	0.448000													37	104					9.8876e-21	1.01948e-20	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32632525	32632525	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:32632525G>A	ENST00000242310.4	-	1	3142	c.3053C>T	c.(3052-3054)tCc>tTc	p.S1018F		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1018					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTTTTCAGGGAAAGGCGACG	0.458000													107	131					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58084492	58084492	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:58084492C>T	ENST00000357272.4	+	8	1367	c.1202C>T	c.(1201-1203)aCc>aTc	p.T401I	FLNB_ENST00000295956.4_Missense_Mutation_p.T401I|FLNB_ENST00000429972.2_Missense_Mutation_p.T401I|FLNB_ENST00000493452.1_Missense_Mutation_p.T232I|FLNB_ENST00000348383.5_Missense_Mutation_p.T401I|FLNB_ENST00000358537.3_Missense_Mutation_p.T401I|FLNB_ENST00000419752.2_Missense_Mutation_p.T232I|FLNB_ENST00000490882.1_Missense_Mutation_p.T401I			O75369	FLNB_HUMAN	filamin B, beta	401					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)		GGGAAGAACACCGTGGAGTTG	0.532000													30	73					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39880099	39880099	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:39880099A>C	ENST00000373186.4	-	7	1027	c.890T>G	c.(889-891)tTc>tGc	p.F297C	MOCS1_ENST00000373188.2_Missense_Mutation_p.F297C|MOCS1_ENST00000432280.2_Missense_Mutation_p.F268C|MOCS1_ENST00000340692.5_Missense_Mutation_p.F297C|MOCS1_ENST00000425303.2_Missense_Mutation_p.F297C|MOCS1_ENST00000308559.7_Missense_Mutation_p.F297C|MOCS1_ENST00000373195.3_Missense_Mutation_p.F210C|MOCS1_ENST00000373175.4_Missense_Mutation_p.F268C	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	297	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGGCCTTGGAAGCCAGGGAT	0.547000													46	91					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50224047	50224047	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:50224047C>T	ENST00000002829.3	+	18	2299	c.1813_splice	c.e18-1	p.A605_splice	SEMA3F_ENST00000434342.1_Splice_Site_p.A574_splice|SEMA3F_ENST00000413852.1_Splice_Site_p.A506_splice	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	605	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ACTCTAAAGCCAACAAGAATG	0.617000													21	52					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878145	5878145	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:5878145G>A	ENST00000537935.1	-	1	819	c.788C>T	c.(787-789)tCa>tTa	p.S263L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	263					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)		TGTCAAGAATGAAAAAAATGC	0.428000													19	96					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113063099	113063099	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:113063099C>T	ENST00000369684.4	+	5	1629	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	WNT2B_ENST00000369686.4_Missense_Mutation_p.P363S|WNT2B_ENST00000256640.5_Missense_Mutation_p.P290S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	382					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCAAAGCCCCCAAGAAGGC	0.502000													8	20					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537550	55537550	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:55537550C>T	ENST00000220676.1	+	4	1256	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	370					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAGTTTTCCAGGAAGAAC	0.398000													23	47					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35994009	35994009	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:35994009T>A	ENST00000297866.5	+	15	2758	c.2692T>A	c.(2692-2694)Ttt>Att	p.F898I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	898										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGGATAGCATTTTCTATTTG	0.328000													25	211					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383326	61383326	+	RNA	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:61383326G>A	ENST00000544088.1	+	0	477				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGTGGATTTTGAACAGTCTAC	0.343000													6	12					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227963492	227963492	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:227963492G>A	ENST00000396625.3	-	19	1329	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	COL4A4_ENST00000329662.7_Silent_p.F374F	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	374	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGCGGCCAGGGAACCCTGGGT	0.502000													22	44					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450321	158450321	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:158450321G>A	ENST00000368152.1	+	1	654	c.654G>A	c.(652-654)gtG>gtA	p.V218V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V218V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACGAATTTGTGATATTCATTT	0.413000													63	221					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156848954	156848954	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:156848954G>A	ENST00000368196.3	+	14	1948	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N	NTRK1_ENST00000358660.3_Missense_Mutation_p.D613N|NTRK1_ENST00000392302.2_Missense_Mutation_p.D580N|NTRK1_ENST00000524377.1_Missense_Mutation_p.D616N	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	616	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGGTGGGGAGGATGTGGCTCC	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			17	48					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124578242	124578242	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:124578242G>A	ENST00000296181.4	-	3	504	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	70	PSI.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTTTTGACAAGGTTTGCCCTC	0.587000													19	71					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276752	75276752	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:75276752G>A	ENST00000546196.1	-	2	1814	c.162C>T	c.(160-162)gcC>gcT	p.A54A	BCAR1_ENST00000393422.2_Silent_p.A101A|BCAR1_ENST00000162330.5_Silent_p.A83A|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000542031.2_Silent_p.A81A|BCAR1_ENST00000538440.2_Silent_p.A83A|BCAR1_ENST00000420641.3_Silent_p.A101A|BCAR1_ENST00000418647.3_Silent_p.A129A|BCAR1_ENST00000393420.6_Silent_p.A83A			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	83	SH3.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGAGGCTGGGCCGGGGTGG	0.692000													22	34					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69673525	69673525	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:69673525G>A	ENST00000194900.4	+	9	1579	c.1238G>A	c.(1237-1239)gGc>gAc	p.G413D	DLG3-AS1_ENST00000431103.1_RNA|DLG3_ENST00000374355.3_Missense_Mutation_p.G58D|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000374360.3_Missense_Mutation_p.G395D			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	395	PDZ 3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGCTCCACAGGCCTGGGCTTC	0.567000													8	17					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897421	175897421	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:175897421G>A	ENST00000359240.3	+	5	1415	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ADAM29_ENST00000514159.1_Missense_Mutation_p.E249K|ADAM29_ENST00000445694.1_Missense_Mutation_p.E249K|ADAM29_ENST00000404450.4_Missense_Mutation_p.E249K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	249	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATTTGGTTTGGAGATCTGGAC	0.393000													47	126					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123051503	123051503	+	Nonsense_Mutation	SNP	C	C	A	rs79462429	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:123051503C>A	ENST00000462833.1	-	4	2638	c.1426G>T	c.(1426-1428)Gag>Tag	p.E476*	ADCY5_ENST00000491190.1_Nonsense_Mutation_p.E109*|ADCY5_ENST00000309879.5_Nonsense_Mutation_p.E126*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	476	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTGAAGCCCTCGATGTCAGCA	0.532000													9	22					7.48243e-07	7.6012e-07	1	1	0
CNGB1	1258	broad.mit.edu	37	16	58001184	58001184	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:58001184C>T	ENST00000564448.1	-	2	67	c.7G>A	c.(7-9)Ggc>Agc	p.G3S	CNGB1_ENST00000251102.8_Missense_Mutation_p.G3S|CNGB1_ENST00000311183.4_Missense_Mutation_p.G3S			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	3					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGGACCCAGCCCAACATCCTG	0.582000													5	38					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064434	78064434	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:78064434C>T	ENST00000299642.4	+	3	402	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CLEC3A_ENST00000575655.1_Missense_Mutation_p.S97F|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	97	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GACTGCATTTCCAAAGGAGGA	0.473000													15	56					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055985	29055985	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:29055985C>T	ENST00000257189.4	+	16	2845	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	921					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S921Y(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGCTGTTTCCATCCCTGAC	0.502000													17	39					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860722	45860722	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:45860722C>T	ENST00000397928.1	+	31	4765	c.4320C>T	c.(4318-4320)atC>atT	p.I1440I	TRPM2_ENST00000397932.2_Silent_p.I1490I|TRPM2_ENST00000300481.9_Silent_p.I1386I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.I1440I	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1440	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATGCCTGGATCGAGACGGTGG	0.617000													43	95					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27441414	27441414	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:27441414C>T	ENST00000337929.3	+	2	495	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	IL21R_ENST00000564089.1_Missense_Mutation_p.P8S|IL21R_ENST00000395755.1_Missense_Mutation_p.P8S|IL21R_ENST00000395754.4_Missense_Mutation_p.P8S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	8					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGGGCCGCCCCCTTGCTCCT	0.721000			T	BCL6	NHL								6	22					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169951956	169951956	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:169951956A>T	ENST00000367765.1	-	14	2940	c.1439T>A	c.(1438-1440)tTt>tAt	p.F480Y	KIFAP3_ENST00000361580.2_Missense_Mutation_p.F520Y|KIFAP3_ENST00000538366.1_Missense_Mutation_p.F442Y|KIFAP3_ENST00000540905.1_Missense_Mutation_p.F222Y|KIFAP3_ENST00000367767.1_Missense_Mutation_p.F476Y	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	520					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCAATCACAAACTCCTCTTC	0.323000													73	59					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6860208	6860208	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:6860208C>T	ENST00000307659.5	+	6	948	c.493C>T	c.(493-495)Cct>Tct	p.P165S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P165S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	165							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGAATTATCCCCTCCAGCAAA	0.353000													6	34					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77762534	77762534	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:77762534G>A	ENST00000261534.4	-	9	1291	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	363	MIR 1.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CAATGCCCTCGGGGTAGAGGT	0.577000													4	8					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40343052	40343052	+	Missense_Mutation	SNP	G	G	A	rs140891551	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:40343052G>A	ENST00000301671.8	-	5	1507	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	GHDC_ENST00000436923.2_Missense_Mutation_p.R356C|GHDC_ENST00000593209.1_Missense_Mutation_p.R356C|GHDC_ENST00000414034.3_Missense_Mutation_p.R356C|GHDC_ENST00000587427.1_Missense_Mutation_p.R356C|GHDC_ENST00000428494.2_Missense_Mutation_p.R317C			Q8N2G8	GHDC_HUMAN	GH3 domain containing	356						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGGCTGGCGCGGTCCGTCAGC	0.662000													15	68					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518303	113518303	+	Silent	SNP	C	C	T	rs150965727		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:113518303C>T	ENST00000284601.3	-	4	2912	c.2844G>A	c.(2842-2844)acG>acA	p.T948T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	948					glycogen metabolic process	integral to membrane		p.T948T(3)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTGATTTCGTAGAAATAG	0.378000													14	77					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949552	7949552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:7949552G>A	ENST00000309838.2	-	1	657	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R220*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACAGAACTCGAATGTAAGAC	0.433000													26	44					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40937767	40937767	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:40937767G>A	ENST00000313164.9	+	6	901	c.542G>A	c.(541-543)gGa>gAa	p.G181E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	181	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGGCTGAGTGGAAATGTCCTG	0.378000													4	18					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38813728	38813728	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:38813728C>T	ENST00000476049.1	-	5	576	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	KRT222_ENST00000394052.3_Missense_Mutation_p.E179K			Q8N1A0	KT222_HUMAN	keratin 222	179						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AAAGATATTTCATTTATAATG	0.269000													4	15					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155180844	155180844	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:155180844G>A	ENST00000357232.3	-	20	5276	c.5277C>T	c.(5275-5277)atC>atT	p.I1759I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1759	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGCTAAAACGATGAGTTGAA	0.358000													33	56					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67679942	67679942	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:67679942C>T	ENST00000334583.6	+	4	536	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	RLTPR_ENST00000545661.1_Silent_p.L70L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	70										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTTCAGCTACCTGGAGGTCCA	0.627000													15	52					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494344	7494344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:7494344C>T	ENST00000486284.1	+	6	1499	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	GRM7_ENST00000403881.1_Nonsense_Mutation_p.Q409*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.Q409*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.Q409*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.Q409*|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	409					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)	GGGTAAAGTCCAGTTCGTGAT	0.483000													24	38					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904307	74904307	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:74904307C>T	ENST00000289575.5	+	9	1515	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	SLCO2B1_ENST00000525650.1_Silent_p.L230L|SLCO2B1_ENST00000532236.1_Silent_p.L258L|SLCO2B1_ENST00000341411.4_Silent_p.L147L|SLCO2B1_ENST00000428359.2_Silent_p.L352L|SLCO2B1_ENST00000531756.1_Silent_p.L119L|SLCO2B1_ENST00000454962.2_Silent_p.L147L	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	374					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCCCATCTTCCTGCTGGTGGT	0.627000													33	60					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674371	71674371	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:71674371G>A	ENST00000299952.4	+	3	717	c.674G>A	c.(673-675)gGa>gAa	p.G225E	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	225	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GTCCTTGCCGGATTCAGTGCC	0.557000													24	63					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920677	58920677	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:58920677C>T	ENST00000528737.1	+	5	4354	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	FAM111A_ENST00000420244.1_Silent_p.V512V|FAM111A_ENST00000531147.1_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000361723.3_Silent_p.V512V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	512					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGAGTATGTCCATATGTATA	0.428000													29	116					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170066148	170066148	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:170066148C>T	ENST00000263816.3	-	38	6569	c.6284G>A	c.(6283-6285)cGa>cAa	p.R2095Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2095					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2095Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGTGCGTTTCGTCCTGGAAG	0.413000													19	44					0	0	1	0	0
TRBJ2-2	28628	broad.mit.edu	37	7	142494258	142494258	+	RNA	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:142494258C>T	ENST00000390413.1	+	0	15																											CACCGGGGAGCTGTTTTTTGG	0.642000													6	33					0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206328847	206328847	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:206328847C>T	ENST00000361052.3	+	7	1047	c.929C>T	c.(928-930)cCc>cTc	p.P310L	CTSE_ENST00000358184.2_Missense_Mutation_p.P305L|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Intron			P14091	CATE_HUMAN	cathepsin E	310					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGGGCAGCCCCCGTGGATGGA	0.612000													13	69					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928454	137928454	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:137928454G>A	ENST00000409968.1	+	7	1847	c.1669G>A	c.(1669-1671)Gga>Aga	p.G557R	THSD7B_ENST00000413152.2_Missense_Mutation_p.G526R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G557R|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B									p.G526R(1)|p.G557R(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)		CCCTGATCATGGAAAATGTGG	0.522000													13	21					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56571847	56571847	+	Silent	SNP	G	G	C	rs142117181	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:56571847G>C	ENST00000394023.3	-	15	1446	c.1341C>G	c.(1339-1341)ccC>ccG	p.P447P	SMARCC2_ENST00000267064.4_Silent_p.P447P|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.P447P|SMARCC2_ENST00000347471.4_Silent_p.P447P	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	447	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGAAGAACTCGGGGAGAGCCC	0.512000													7	21					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	52					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083068	1083068	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:1083068G>A	ENST00000441003.2	+	16	1995	c.1968G>A	c.(1966-1968)aaG>aaA	p.K656K	MUC2_ENST00000359061.5_Silent_p.K656K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	656						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCAGACAAGGATGTGGGCT	0.667000													5	11					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49701251	49701251	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:49701251G>A	ENST00000296452.4	+	8	11654	c.11540G>A	c.(11539-11541)gGg>gAg	p.G3847E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3847					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)		GGCTCTAAAGGGACAGCCAAA	0.582000													31	63					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749494	8749494	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:8749494C>T	ENST00000276282.6	-	1	1661	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	359										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCAAAGTGGTCGGGCAGCACC	0.612000													24	70					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635183	32635183	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:32635183G>A	ENST00000242310.4	-	1	484	c.395C>T	c.(394-396)cCc>cTc	p.P132L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	132					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTGGTAAAGGGGCTGCAAGCT	0.483000													63	50					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542906	14542906	+	Silent	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:14542906C>A	ENST00000358970.5	-	1	239	c.240G>T	c.(238-240)gtG>gtT	p.V80V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	80										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAGAAGTGCCCACGTTGCTCG	0.587000													18	375					5.01169e-05	5.06826e-05	1	1	0
LRRC37A2	474170	broad.mit.edu	37	17	44626486	44626486	+	Silent	SNP	C	C	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:44626486C>G	ENST00000576629.1	+	10	4476	c.3981C>G	c.(3979-3981)gtC>gtG	p.V1327V	ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Silent_p.V1327V|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1327						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GTCCAAAGGTCAGAAAGAAAA	0.448000													76	402					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476556	120476556	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:120476556C>T	ENST00000355622.6	+	3	2251	c.2150C>T	c.(2149-2151)gCc>gTc	p.A717V	TLR4_ENST00000394487.4_Missense_Mutation_p.A677V|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	717	TIR.				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	p.A717D(1)		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						CCCGGTGTGGCCATTGCTGCC	0.473000													30	56					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186880444	186880444	+	Silent	SNP	A	A	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:186880444A>C	ENST00000367466.3	+	7	633	c.481A>C	c.(481-483)Aga>Cga	p.R161R	PLA2G4A_ENST00000442353.2_Intron|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	161	PLA2c.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CAGACAACAGAGAAAAGAACA	0.423000													30	41					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680100	43680100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:43680100C>T	ENST00000404580.1	-	3	719	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PSG5_ENST00000366175.3_Missense_Mutation_p.E211K|PSG5_ENST00000599812.1_Missense_Mutation_p.E304K|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.E211K|PSG5_ENST00000342951.6_Missense_Mutation_p.E211K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	211	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGTCCTGTTTCATTTCTCGTG	0.502000													68	175					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174223442	174223442	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:174223442G>A	ENST00000306721.3	+	2	127	c.24G>A	c.(22-24)caG>caA	p.Q8Q	CDCA7_ENST00000410101.3_Silent_p.Q8Q|CDCA7_ENST00000347703.3_Silent_p.Q8Q|CDCA7_ENST00000392567.2_Silent_p.Q8Q|CDCA7_ENST00000410019.3_Intron	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	0					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ATTTGCAGCAGAAAGATCTCA	0.348000													13	28					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38958341	38958341	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:38958341G>A	ENST00000355481.4	+	25	3401	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	RYR1_ENST00000360985.3_Silent_p.E1090E|RYR1_ENST00000359596.3_Silent_p.E1090E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1090	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTACTTCGAGTTTGAAGCAG	0.587000													41	76					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17039616	17039616	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:17039616C>T	ENST00000395811.5	+	6	677	c.588C>T	c.(586-588)gtC>gtT	p.V196V	MPRIP_ENST00000444976.1_Silent_p.V196V|MPRIP_ENST00000395804.3_Silent_p.V196V|MPRIP_ENST00000341712.4_Silent_p.V196V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	196	Interaction with F-actin (By similarity).|Ser-rich.					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						CTGAGAAAGTCCCCACCACCA	0.612000													10	21					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217315660	217315660	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:217315660C>T	ENST00000357276.4	+	12	2273	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S648F	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	648					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CGCCTCAAGTCCGACGTCCTT	0.612000									Schimke Immuno-Osseous Dysplasia				32	61					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20089873	20089873	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:20089873C>T	ENST00000396085.1	+	22	5273	c.4912C>T	c.(4912-4914)Cgc>Tgc	p.R1638C	NAV2_ENST00000540292.1_Missense_Mutation_p.R1625C|NAV2_ENST00000311043.8_Missense_Mutation_p.R702C|NAV2_ENST00000527559.2_Missense_Mutation_p.R1623C|NAV2_ENST00000396087.3_Missense_Mutation_p.R1694C|NAV2_ENST00000349880.4_Missense_Mutation_p.R1638C|NAV2_ENST00000533917.1_Missense_Mutation_p.R702C|NAV2_ENST00000360655.4_Missense_Mutation_p.R1574C	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1694	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCTTTAGATTCGCAAGCTGCG	0.483000													25	69					0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228656	25228656	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:25228656C>T	ENST00000219660.5	+	2	275	c.150C>T	c.(148-150)ttC>ttT	p.F50F	AQP8_ENST00000566125.1_Silent_p.F44F	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	50					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TCTTCATCTTCATCGGGTGCC	0.642000													61	193					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226890	2226890	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:2226890C>T	ENST00000398665.3	+	27	4406	c.4370C>T	c.(4369-4371)tCc>tTc	p.S1457F		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1457						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGTCCTCCGCCCAGACG	0.766000													10	12					0	0	1	0	0
GPR89A	653519	broad.mit.edu	37	1	145811903	145811903	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:145811903G>A	ENST00000313835.9	-	4	449	c.306C>T	c.(304-306)atC>atT	p.I102I	GPR89A_ENST00000534502.1_Silent_p.I77I|GPR89A_ENST00000462900.2_Silent_p.I77I|GPR89A_ENST00000454423.3_5'UTR			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	102					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TACGTAGTCGGATATTGCTCA	0.373000													35	188					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994209	140994209	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:140994209T>C	ENST00000285879.4	+	4	1305	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	340							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTCCAGATTCCTATGACC	0.468000										HNSCC(15;0.026)			23	452					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102606504	102606504	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:102606504C>T	ENST00000322340.5	+	1	293	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000556511.2_Missense_Mutation_p.R82C|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.R82C|WDR20_ENST00000556807.1_Missense_Mutation_p.R82C|WDR20_ENST00000424963.2_Silent_p.S14S|WDR20_ENST00000558567.1_Missense_Mutation_p.R82C|WDR20_ENST00000335263.5_Missense_Mutation_p.R82C|WDR20_ENST00000299135.6_Missense_Mutation_p.R82C|WDR20_ENST00000342702.3_Missense_Mutation_p.R82C	NM_001242415.1	NP_001229344.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	82										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CAAGGGGGTCCGCAAGGTACC	0.662000													10	28					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729807	41729807	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:41729807C>G	ENST00000242208.4	-	3	968	c.722G>C	c.(721-723)cGg>cCg	p.R241P	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.R241P|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	241					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGGCAATCCGAACGTCCAG	0.572000										TSP Lung(11;0.080)			4	59					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540752	28540752	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:28540752C>A	ENST00000452236.2	-	4	3531	c.2914G>T	c.(2914-2916)Ggt>Tgt	p.G972C		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	972					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gaagctgcaccatcagaacat	0.358000													9	111					7.48243e-07	7.6012e-07	1	1	0
RNF123	63891	broad.mit.edu	37	3	49735512	49735512	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:49735512C>T	ENST00000327697.6	+	7	569	c.425C>T	c.(424-426)tCc>tTc	p.S142F	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	142	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTCCTCATCTCCTCCCAGGGG	0.607000													18	45					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002676	122002676	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:122002676C>T	ENST00000498619.1	+	7	2343	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	CASR_ENST00000490131.1_Silent_p.F625F|CASR_ENST00000296154.5_Silent_p.F625F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	625					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)	TGGGCATTTTCCTGACAGCCT	0.552000													11	77					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160138668	160138668	+	Silent	SNP	A	A	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:160138668A>C	ENST00000357388.3	+	13	2449	c.1998A>C	c.(1996-1998)gcA>gcC	p.A666A	SMC4_ENST00000360111.2_Silent_p.A666A|SMC4_ENST00000344722.5_Silent_p.A666A|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.A666A|SMC4_ENST00000469762.1_Silent_p.A641A	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	666	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGGAGTTGCAACCTTTATAG	0.363000													19	24					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737001	4737001	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:4737001G>A	ENST00000545990.2	-	5	1591	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	AKAP3_ENST00000228850.1_Missense_Mutation_p.S356L	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	356					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTTCACAGCCGAGACAAACTG	0.473000													23	60					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130130907	130130907	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:130130907G>A	ENST00000525842.1	-	2	1229	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	ZBTB44_ENST00000357899.4_Missense_Mutation_p.R288W|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R288W|ZBTB44_ENST00000397753.1_Missense_Mutation_p.R288W	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACTTTGACCCGGACATCTTCT	0.478000													46	91					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185229	56185229	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:56185229G>A	ENST00000312253.1	-	1	479	c.480C>T	c.(478-480)acC>acT	p.T160T		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AAGTGATAACGGTGTGGAAGA	0.453000													32	65					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990929	47990929	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:47990929C>T	ENST00000371741.4	-	2	1334	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	390					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACAATTTTCCCCAGGAGAGTC	0.507000													7	78					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425410	74425410	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:74425410C>T	ENST00000429990.1	+	7	860	c.764C>T	c.(763-765)tCt>tTt	p.S255F						nuclear pore complex interacting protein family, member B15																		CAACAACATTCTATAACTGAT	0.502000													20	130					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914872	61914872	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:61914872G>A	ENST00000448276.2	-	2	595	c.330C>T	c.(328-330)acC>acT	p.T110T	SMARCD2_ENST00000225742.9_Silent_p.T35T|SMARCD2_ENST00000323347.10_Silent_p.T62T	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	110	Pro-rich.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GATCCATCATGGTGGGTGGCA	0.647000													6	116					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98887257	98887257	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:98887257G>A	ENST00000477737.1	+	22	3160	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	986										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTGGAAAGTGAAATCCTAGC	0.473000													55	88					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092216	56092216	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:56092216G>A	ENST00000257880.7	-	8	1494	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ITGA7_ENST00000555728.1_Silent_p.F425F|ITGA7_ENST00000553804.1_Silent_p.F385F|ITGA7_ENST00000347027.6_Silent_p.F381F|ITGA7_ENST00000394229.2_Silent_p.F381F|ITGA7_ENST00000452168.2_Silent_p.F288F|ITGA7_ENST00000394230.2_Silent_p.F385F|ITGA7_ENST00000257879.6_Silent_p.F381F			Q13683	ITA7_HUMAN	integrin, alpha 7	425					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCTGATCCCGAACATGGAGT	0.622000													15	25					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720260	140720260	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140720260C>T	ENST00000394576.2	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.G574G(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACTGGCGTGGAGCTGG	0.627000													35	236					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52504022	52504022	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:52504022A>T	ENST00000261839.7	-	35	4362	c.4201T>A	c.(4201-4203)Ttc>Atc	p.F1401I		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1401						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACACACATGAACAGGATATGA	0.532000													43	108					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72127898	72127898	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:72127898C>T	ENST00000340726.3	-	15	2065	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	EYA1_ENST00000388743.2_Missense_Mutation_p.D475N|EYA1_ENST00000303824.7_Missense_Mutation_p.D470N|EYA1_ENST00000388742.4_Missense_Mutation_p.D476N|EYA1_ENST00000388741.2_Missense_Mutation_p.D442N|EYA1_ENST00000388740.3_Missense_Mutation_p.D443N|EYA1_ENST00000419131.1_Missense_Mutation_p.D441N	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	476					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AACCAGGAGTCGGTCAGGGCT	0.547000													50	48					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820439	35820439	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:35820439C>T	ENST00000399989.1	+	2	405	c.126C>T	c.(124-126)tcC>tcT	p.S42S	MAGEB16_ENST00000399985.1_Silent_p.S42S|MAGEB16_ENST00000399987.1_Silent_p.S42S|MAGEB16_ENST00000399992.1_Silent_p.S74S|MAGEB16_ENST00000399988.1_Silent_p.S42S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	42										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTCCTCCTCCCATCCTCTAG	0.552000													21	22					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142221765	142221765	+	Missense_Mutation	SNP	G	G	A	rs151336979		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:142221765G>A	ENST00000024061.3	-	8	2480	c.2173C>T	c.(2173-2175)Cgt>Tgt	p.R725C	SLC45A4_ENST00000519067.1_3'UTR|SLC45A4_ENST00000433583.2_Missense_Mutation_p.S720L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.S778L	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCAATGTGACGAGATCTGACA	0.363000													9	66					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595325	2595325	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:2595325C>T	ENST00000399655.1	+	6	1078	c.813C>T	c.(811-813)atC>atT	p.I271I	CACNA1C_ENST00000399644.1_Silent_p.I271I|CACNA1C_ENST00000347598.4_Silent_p.I271I|CACNA1C_ENST00000344100.3_Silent_p.I271I|CACNA1C_ENST00000399637.1_Silent_p.I271I|CACNA1C_ENST00000406454.3_Silent_p.I271I|CACNA1C_ENST00000399603.1_Silent_p.I271I|CACNA1C_ENST00000399606.1_Silent_p.I271I|CACNA1C_ENST00000399634.1_Silent_p.I271I|CACNA1C_ENST00000399649.1_Silent_p.I271I|CACNA1C_ENST00000399601.1_Silent_p.I271I|CACNA1C_ENST00000399597.1_Silent_p.I271I|CACNA1C_ENST00000399629.1_Silent_p.I271I|CACNA1C_ENST00000399638.1_Silent_p.I271I|CACNA1C_ENST00000399591.1_Silent_p.I271I|CACNA1C_ENST00000480911.1_Silent_p.I271I|CACNA1C_ENST00000399595.1_Silent_p.I271I|CACNA1C_ENST00000399641.1_Silent_p.I271I|CACNA1C_ENST00000399617.1_Silent_p.I271I|CACNA1C_ENST00000399621.1_Silent_p.I271I|CACNA1C_ENST00000335762.5_Silent_p.I271I|CACNA1C_ENST00000327702.7_Silent_p.I271I|CACNA1C_ENST00000402845.3_Silent_p.I271I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	271					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCTGCACATCGCCCTGCTTG	0.562000													11	18					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73641371	73641371	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:73641371G>A	ENST00000276033.5	+	1	287	c.121G>A	c.(121-123)Ggc>Agc	p.G41S	SLC16A2_ENST00000587091.1_5'UTR			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	0						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	cagcggcagcggcagcagcag	0.706000													2	5					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629362	1629362	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:1629362C>T	ENST00000399685.1	-	1	331	c.254G>A	c.(253-255)gGg>gAg	p.G85E		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	85	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCCACAGCCCCCCTTGGAGCC	0.667000													61	99					0	0	1	0	0
CCDC174	51244	broad.mit.edu	37	3	14712409	14712409	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:14712409C>T	ENST00000383794.3	+	11	1185	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	CCDC174_ENST00000476763.1_3'UTR|CCDC174_ENST00000303688.7_Missense_Mutation_p.S295F	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		CCAGAATTTTCCTTTGGATAC	0.368000													7	49					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830807	61830807	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:61830807C>T	ENST00000280772.1	-	37	10023	c.9832G>A	c.(9832-9834)Gag>Aag	p.E3278K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3278					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGTCAACCTCTTTTTCTGGG	0.463000													60	76					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28224135	28224135	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:28224135C>T	ENST00000305242.5	-	16	2391	c.2299G>A	c.(2299-2301)Gat>Aat	p.D767N	ARMC4_ENST00000537576.1_Missense_Mutation_p.D459N|ARMC4_ENST00000545014.1_Missense_Mutation_p.D292N	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	767							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						TCAGGCTGATCTGTTAGAAGT	0.428000													20	60					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175716691	175716691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:175716691G>A	ENST00000443967.1	+	4	514	c.107G>A	c.(106-108)aGg>aAg	p.R36K	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.R55K|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000430704.2_Intron					SUMO-interacting motifs containing 1																		ACCAGACCAAGGACAAAAGAT	0.413000													6	23					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862753	9862753	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:9862753C>T	ENST00000396573.2	-	13	2859	c.2550G>A	c.(2548-2550)acG>acA	p.T850T	GRIN2A_ENST00000396575.2_Silent_p.T850T|GRIN2A_ENST00000535259.1_Silent_p.T693T|GRIN2A_ENST00000330684.3_Silent_p.T850T|GRIN2A_ENST00000562109.1_Silent_p.T850T|GRIN2A_ENST00000404927.2_Silent_p.T850T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	850					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T850T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCACACGCCCGTGAAACAGA	0.577000													47	88					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958620	26958620	+	Silent	SNP	G	G	A	rs76379991		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:26958620G>A	ENST00000528896.2	-	23	4250	c.4176C>T	c.(4174-4176)caC>caT	p.H1392H	KIAA0100_ENST00000544884.1_Silent_p.H1249H|KIAA0100_ENST00000389003.3_Silent_p.H1249H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1392						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)					AGGCCATCAGGTGAACGGTCA	0.532000													18	34					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158224761	158224761	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:158224761C>T	ENST00000296526.7	+	3	612	c.287C>T	c.(286-288)tCt>tTt	p.S96F	GRIA2_ENST00000449365.1_Missense_Mutation_p.S49F|GRIA2_ENST00000507898.1_Missense_Mutation_p.S49F|GRIA2_ENST00000393815.2_Missense_Mutation_p.S49F|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000264426.9_Missense_Mutation_p.S96F	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	96					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GACAAGAAGTCTGTAAATACC	0.393000													54	88					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42605941	42605941	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:42605941G>A	ENST00000359486.3	-	1	5507	c.5371C>T	c.(5371-5373)Cgc>Tgc	p.R1791C	TCF20_ENST00000335626.4_Missense_Mutation_p.R1791C|TCF20_ENST00000404876.1_Missense_Mutation_p.R92C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTTCCGAGCGGTGGCGCCGC	0.597000													48	254					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019901	23019901	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:23019901C>T	ENST00000327968.5	+	1	1815	c.1727C>T	c.(1726-1728)tCg>tTg	p.S576L	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	576	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.S576L(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CAGAGAGATTCGAAAATGGCC	0.413000													26	113					0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103438659	103438659	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:103438659G>C	ENST00000376004.4	-	9	1750	c.1414C>G	c.(1414-1416)Caa>Gaa	p.Q472E	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	472						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTCGGATTTGGGGCTCACTC	0.423000													46	88					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111356938	111356938	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:111356938G>A	ENST00000228841.8	-	2	110	c.63C>T	c.(61-63)ttC>ttT	p.F21F	MYL2_ENST00000548438.1_Silent_p.F21F	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	21					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GGGTCTGTTCGAACATGGAGA	0.507000													5	36					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			26	84					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814775	106814775	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:106814775C>T	ENST00000407775.2	+	8	2715	c.2465C>T	c.(2464-2466)tCc>tTc	p.S822F	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S690F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S553F|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S690F|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	822					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCAGTGTTTCCTGCCTAGAG	0.453000													6	6					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800972	21800972	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:21800972C>T	ENST00000443632.2	+	2	2160	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G	HIC2_ENST00000407598.2_Silent_p.G596G|HIC2_ENST00000407464.2_Silent_p.G596G			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	596					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGTGCGGGGGCAAGTTCACCC	0.647000													9	126					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244235	100244235	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:100244235T>C	ENST00000160382.5	-	12	1158	c.1052A>G	c.(1051-1053)aAc>aGc	p.N351S		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	351					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CAGCAGTGTGTTCCCGCCGGT	0.652000													8	48					0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23002101	23002101	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:23002101C>T	ENST00000312584.3	-	7	910	c.816G>A	c.(814-816)gaG>gaA	p.E272E		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	272					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GGGCATTGTCCTCCGCCCCAG	0.587000													29	46					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115168201	115168201	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:115168201C>T	ENST00000393274.1	-	4	1030	c.405G>A	c.(403-405)gaG>gaA	p.E135E	DENND2C_ENST00000393276.3_Silent_p.E135E|DENND2C_ENST00000393277.1_Silent_p.E135E	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	135										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GTAATGAAGTCTCTGGATCTA	0.363000													10	50					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55496482	55496482	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:55496482G>A	ENST00000543010.1	+	7	2241	c.2098G>A	c.(2098-2100)Gat>Aat	p.D700N	NLRP2_ENST00000538819.1_Missense_Mutation_p.D676N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D678N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D678N|NLRP2_ENST00000263437.6_Missense_Mutation_p.D697N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D700N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D676N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D677N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	700					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATCAAATAAGGATCTGATGGG	0.443000													34	114					0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67174417	67174417	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:67174417C>T	ENST00000312390.5	+	8	797	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TBC1D10C_ENST00000542590.1_Silent_p.F256F|TBC1D10C_ENST00000526387.1_Intron	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	256	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCGAGTGGTTCCTGTGCCTCT	0.682000													53	181					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049603	69049603	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:69049603C>T	ENST00000295381.3	+	10	1748	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	ARHGAP25_ENST00000409202.3_Silent_p.L444L|ARHGAP25_ENST00000409220.1_Silent_p.L437L|ARHGAP25_ENST00000409030.3_Silent_p.L436L|ARHGAP25_ENST00000467265.1_Silent_p.L404L|ARHGAP25_ENST00000479844.1_Silent_p.L137L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	443					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTCAAACACTCCCTAACCGGA	0.483000													50	111					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40604331	40604331	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:40604331T>C	ENST00000342449.3	-	24	2938	c.2860A>G	c.(2860-2862)Aaa>Gaa	p.K954E	BRWD1_ENST00000380800.3_Missense_Mutation_p.K954E|BRWD1_ENST00000333229.2_Missense_Mutation_p.K954E	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	954					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AAAGGAGATTTTCTAAGTGTG	0.348000													30	38					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994197	140994197	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:140994197C>G	ENST00000285879.4	+	4	1293	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	336							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCCAGTCTCTTCTCCAG	0.463000										HNSCC(15;0.026)			23	465					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263944	34263944	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:34263944C>T	ENST00000262622.3	+	4	2009	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	CHST8_ENST00000438847.2_Silent_p.S417S|CHST8_ENST00000434302.1_Silent_p.S417S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	417					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCAACTATTCCAAGCCCTTTG	0.622000													13	24					0	0	1	0	0
CSRNP2	81566	broad.mit.edu	37	12	51458059	51458059	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:51458059G>A	ENST00000228515.1	-	5	1399	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	368					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGCTCTTCGGGGACAGCCAGA	0.612000													25	68					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207534	135207534	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:135207534C>T	ENST00000274513.5	+	5	978	c.806C>T	c.(805-807)tCt>tTt	p.S269F	SLC25A48_ENST00000420621.1_Intron|SLC25A48_ENST00000433282.2_Intron|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCCAACAATTCTTTGTTAGGT	0.562000													14	12					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820627	35820627	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:35820627C>T	ENST00000399989.1	+	2	593	c.314C>T	c.(313-315)cCc>cTc	p.P105L	MAGEB16_ENST00000399985.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399987.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.P137L|MAGEB16_ENST00000399988.1_Missense_Mutation_p.P105L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	105										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACATCAGACCCCAGGAATGTG	0.468000													4	38					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57143616	57143616	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:57143616G>A	ENST00000296318.7	-	5	587	c.499C>T	c.(499-501)Cct>Tct	p.P167S	IL17RD_ENST00000463523.1_Missense_Mutation_p.P23S|IL17RD_ENST00000427856.2_Missense_Mutation_p.P143S|IL17RD_ENST00000320057.5_Missense_Mutation_p.P23S	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	167						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TTAATGGAAGGAAAAGGGACA	0.408000													21	61					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26073252	26073252	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:26073252G>A	ENST00000374332.4	+	3	1061	c.731G>A	c.(730-732)gGa>gAa	p.G244E	MAN1C1_ENST00000374329.1_Missense_Mutation_p.G15E|MAN1C1_ENST00000263979.3_Missense_Mutation_p.G64E|MAN1C1_ENST00000473891.1_3'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	244					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GCCTGGGTGGGAGAGAGCTTC	0.642000													11	18					0	0	1	0	0
PIN4	5303	broad.mit.edu	37	X	71417227	71417227	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:71417227G>T	ENST00000373669.2	+	4	354	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C	PIN4_ENST00000423432.2_Intron|PIN4_ENST00000218432.5_3'UTR	NM_006223.3	NP_006214.2	Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	83	PpiC.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity			large_intestine(1)|lung(2)	3	Renal(35;0.156)					GGGTGACTTGGGTTGGATGAC	0.468000													7	27					1.06961e-07	1.08906e-07	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130318625	130318625	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:130318625C>T	ENST00000358511.6	+	19	4655	c.4624C>T	c.(4624-4626)Ccc>Tcc	p.P1542S	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1542S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1542	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCCAGGCCCCCCCGGGACACC	0.493000													14	39					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044242	119044242	+	Missense_Mutation	SNP	G	G	A	rs144665491	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:119044242G>A	ENST00000334464.5	-	5	2241	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	668					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCTTAGTAGGGCAGGAAGTT	0.428000													6	61					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24466921	24466921	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:24466921C>T	ENST00000230036.1	-	10	918	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	270						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						GTCCCATTCTCCAACATGAAG	0.403000													16	28					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50485644	50485644	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:50485644C>T	ENST00000266182.6	-	4	345	c.346G>A	c.(346-348)Gac>Aac	p.D116N	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.D116N					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		AGCATCTGGTCGTAGGTCAGG	0.552000													10	36					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967551	4967551	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:4967551G>A	ENST00000380373.2	-	1	805	c.780C>T	c.(778-780)gcC>gcT	p.A260A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGGACAACGGCCAGGTTGA	0.468000													11	75					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63223508	63223508	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:63223508C>T	ENST00000449996.3	+	19	2071	c.1999C>T	c.(1999-2001)Ccc>Tcc	p.P667S	RGS9_ENST00000262406.9_Missense_Mutation_p.P670S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	670					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGTCATCTGCCCCTGGGAGAG	0.602000													9	17					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80327860	80327860	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:80327860G>A	ENST00000358842.3	-	1	1512	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	499				R -> C (in Ref. 2; BAF84930).	glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTGGCATAACGAATTTCACTT	0.478000													43	96					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54981663	54981663	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:54981663C>T	ENST00000316881.4	-	3	929	c.880G>A	c.(880-882)Gag>Aag	p.E294K	TRIM25_ENST00000537230.1_Missense_Mutation_p.E294K	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	294	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TGTTCAATCTCCTCCTTCAAG	0.428000													71	156					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419273	179419273	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179419273C>T	ENST00000589042.1	-	332	89025	c.88801G>A	c.(88801-88803)Gga>Aga	p.G29601R	TTN_ENST00000342175.6_Missense_Mutation_p.G20728R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27960R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20661R|TTN_ENST00000460472.2_Missense_Mutation_p.G20536R|TTN_ENST00000342992.6_Missense_Mutation_p.G27033R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27960	Ig-like 135.						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)			TATTCATTTCCTTTGATAATT	0.453000													9	49					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150747973	150747973	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:150747973G>A	ENST00000357922.4	+	4	1536	c.942G>A	c.(940-942)ggG>ggA	p.G314G	ASIC3_ENST00000349064.5_Silent_p.G314G|ASIC3_ENST00000297512.8_Silent_p.G314G	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	314					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCCTTATGGGGTGTCGCCTGG	0.632000													20	37					0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19118936	19118936	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:19118936G>A	ENST00000399635.2	+	1	616	c.24G>A	c.(22-24)agG>agA	p.R8R	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	8					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGTCCTAAGGAAGAAGGGTT	0.542000													57	59					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115785	168115785	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:168115785C>A	ENST00000409728.1	+	11	2917	c.2828C>A	c.(2827-2829)cCt>cAt	p.P943H	XIRP2_ENST00000409043.1_Missense_Mutation_p.P910H|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.P943H|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.P910H|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.P688H	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						ACAGCTAAGCCTTTGTTTCCC	0.438000													32	63					2.81731e-10	2.87835e-10	1	1	0
GLYATL1	92292	broad.mit.edu	37	11	58723129	58723129	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:58723129G>A	ENST00000300079.5	+	7	681	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	GLYATL1_ENST00000317391.4_Missense_Mutation_p.G180R|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	180						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CTCTTATTCTGGGCTGGTAAA	0.468000													22	46					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17322951	17322951	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:17322951C>T	ENST00000594824.1	+	40	6453	c.6306C>T	c.(6304-6306)cgC>cgT	p.R2102R	MYO9B_ENST00000595618.1_3'UTR|MYO9B_ENST00000397274.2_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2102	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CACCTGCCCGCCGCCCGGACC	0.726000													5	9					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59465979	59465979	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:59465979G>A	ENST00000589222.1	+	25	2728	c.2659_splice	c.e25-1	p.G887_splice	BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000390652.5_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588874.1_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTTTCAAAAGGGAAAAAAAAA	0.443000													3	6					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346324	37346324	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:37346324G>A	ENST00000373091.3	-	3	477	c.461C>T	c.(460-462)cCc>cTc	p.P154L	GRIK3_ENST00000373093.4_Missense_Mutation_p.P154L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	154					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCGTAGTCGGGGTAGAGGTT	0.607000													19	135					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:168100393G>A	ENST00000409195.1	+	9	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(1)		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						CATTGAAAAGGAAAAAATAAT	0.388000													26	68					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135469928	135469928	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:135469928G>A	ENST00000394143.1	+	16	8097	c.7806G>A	c.(7804-7806)ggG>ggA	p.G2602G	GPR112_ENST00000412101.1_Silent_p.G2397G|GPR112_ENST00000370652.1_Silent_p.G2602G|GPR112_ENST00000394141.1_Silent_p.G2397G|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2602					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTGGGAGGGATTTTGGCTT	0.413000													77	134					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062001	194062001	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:194062001G>A	ENST00000323830.3	-	2	1520	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	CPN2_ENST00000429275.1_Silent_p.A477A	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	477					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	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;4.65e-05)		ACTGGCTCCGGGCTGCCCTTT	0.667000													19	73					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597576	136597576	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:136597576T>C	ENST00000371872.4	-	3	736	c.479A>G	c.(478-480)cAg>cGg	p.Q160R	SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.Q160R|SARDH_ENST00000298628.5_Missense_Mutation_p.Q160R|SARDH_ENST00000371867.1_Missense_Mutation_p.Q71R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	160					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCAGGCGCTGCCGGTTGGA	0.677000													17	186					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244640	100244640	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:100244640T>C	ENST00000160382.5	-	10	996	c.890A>G	c.(889-891)gAg>gGg	p.E297G		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	297					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCGGAGTCGCTCGGCGCCGTA	0.612000													13	64					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159392	118159392	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:118159392G>A	ENST00000427715.2	+	5	558	c.124_splice	c.e5+1	p.G42_splice	SLC30A8_ENST00000519688.1_Splice_Site_p.G42_splice|SLC30A8_ENST00000521243.1_Splice_Site_p.G42_splice|SLC30A8_ENST00000456015.2_Splice_Site_p.G91_splice	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	91					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGAGGTCGTGGGTGAGTCTTT	0.398000													53	44					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95566470	95566470	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:95566470G>A	ENST00000343958.4	-	3	2715	c.2492C>T	c.(2491-2493)cCc>cTc	p.P831L	FGD6_ENST00000549499.1_Missense_Mutation_p.P831L|FGD6_ENST00000546711.1_Missense_Mutation_p.P831L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	831					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			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCATCAGAGGGAAGGTCACC	0.443000													24	78					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96036835	96036835	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:96036835G>A	ENST00000515059.1	+	6	529		c.e6-1		BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTCGATTATAGGACACTCCCA	0.338000													20	48					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220586	118220586	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:118220586G>A	ENST00000402510.2	-	11	4606	c.4607C>T	c.(4606-4608)tCt>tTt	p.S1536F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1536										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGCAACGTAAGATATTTTGGT	0.512000													36	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616629	179616629	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179616629C>T	ENST00000360870.5	-	46	10720	c.10498G>A	c.(10498-10500)Gaa>Aaa	p.E3500K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3499							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)			TTAAAATATTCAGGCCAGGAG	0.383000													55	128					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30419615	30419615	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:30419615G>A	ENST00000375994.2	+	10	1807	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.E512K			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	512	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.E512K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGTATCAGACGAGGCCAAAGA	0.512000													28	66					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032166	213032166	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:213032166G>A	ENST00000366971.4	+	1	570	c.372G>A	c.(370-372)caG>caA	p.Q124Q		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	124					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		ACGCCTTTCAGTGGATCCAGT	0.612000													20	34					0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49493110	49493110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:49493110C>T	ENST00000371608.2	+	5	577	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	BCAS4_ENST00000358791.5_3'UTR|BCAS4_ENST00000262591.5_Nonsense_Mutation_p.Q148*	NM_198799.2	NP_942094.2	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	0						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CGGGGAAGCACAGCACCACCC	0.582000													7	116					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396990	71396990	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:71396990G>A	ENST00000339336.4	+	8	722	c.592G>A	c.(592-594)Gag>Aag	p.E198K	AMTN_ENST00000504451.1_Missense_Mutation_p.E197K	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	198					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ACATGCCATCGAGGAAGCCAC	0.517000													9	34					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42393388	42393388	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:42393388A>C	ENST00000379310.3	-	15	1903	c.1835T>G	c.(1834-1836)gTg>gGg	p.V612G	VWA8_ENST00000281496.6_Missense_Mutation_p.V612G	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TTCACTTTTCACAAGTGGTTT	0.388000													11	28					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115932877	115932877	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:115932877G>A	ENST00000238256.3	-	25	2808	c.2691C>T	c.(2689-2691)tcC>tcT	p.S897S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	897					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTCTCCGTAAGGACTGGAACA	0.443000													30	96					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47405404	47405404	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:47405404C>T	ENST00000285039.7	-	24	3486	c.3187G>A	c.(3187-3189)Gag>Aag	p.E1063K	MYO5B_ENST00000324581.6_Missense_Mutation_p.E204K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1063					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGGGATCGCTCCTCCTCCAGT	0.468000													29	39					0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90673167	90673167	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:90673167C>T	ENST00000371927.3	+	6	1688	c.730C>T	c.(730-732)Cct>Tct	p.P244S	STAMBPL1_ENST00000371926.3_Missense_Mutation_p.P244S|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.P78S|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.P244S			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	244							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CCACTCTCCTCCTGTAAACAG	0.453000													47	49					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036794	153036794	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:153036794C>T	ENST00000538966.1	+	14	2623	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	PLXNB3_ENST00000538776.1_Silent_p.L414L|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Silent_p.L761L|PLXNB3_ENST00000538282.1_Silent_p.L371L	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	761					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCGGGAGCTCCCAGTGCCCA	0.632000													24	58					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9351884	9351884	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:9351884G>A	ENST00000378501.2	+	7	542	c.527G>A	c.(526-528)gGa>gAa	p.G176E	PLCB4_ENST00000334005.3_Missense_Mutation_p.G176E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G176E|PLCB4_ENST00000378473.3_Missense_Mutation_p.G176E|PLCB4_ENST00000414679.2_Missense_Mutation_p.G176E|PLCB4_ENST00000378493.1_Missense_Mutation_p.G176E|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	176					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.G176E(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTGCATCGGGAAAAACAGAA	0.353000													24	93					0	0	1	0	0
CD68	968	broad.mit.edu	37	17	7483543	7483543	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:7483543G>A	ENST00000250092.6	+	2	676	c.465G>A	c.(463-465)gaG>gaA	p.E155E	CD68_ENST00000380498.6_Silent_p.E128E	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	155						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						CCTCCAAGGAGACCATTGGAG	0.572000													8	21					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647610	38647610	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:38647610C>T	ENST00000413689.1	-	10	1363	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	SCN5A_ENST00000449557.2_Missense_Mutation_p.M390I|SCN5A_ENST00000455624.2_Missense_Mutation_p.M390I|SCN5A_ENST00000450102.2_Missense_Mutation_p.M390I|SCN5A_ENST00000451551.2_Missense_Mutation_p.M390I|SCN5A_ENST00000414099.2_Missense_Mutation_p.M390I|SCN5A_ENST00000423572.2_Missense_Mutation_p.M390I|SCN5A_ENST00000333535.4_Missense_Mutation_p.M390I|SCN5A_ENST00000443581.1_Missense_Mutation_p.M390I|SCN5A_ENST00000425664.1_Missense_Mutation_p.M390I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	390					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGAAGAAGATCATGTAGATCT	0.567000													19	43					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384738	108384738	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:108384738G>A	ENST00000265843.4	-	6	1606	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	EXPH5_ENST00000443411.1_Missense_Mutation_p.S311L|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.S492L|EXPH5_ENST00000428840.1_Missense_Mutation_p.S423L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	499					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGAACTGAATGATTTCCTGCT	0.423000													25	46					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168282176	168282176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:168282176C>T	ENST00000367821.3	+	8	1334	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	428					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCTCGCATCCCTTCGCGGGC	0.622000													6	112					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38651317	38651317	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:38651317A>G	ENST00000413689.1	-	7	1035	c.842T>C	c.(841-843)gTg>gCg	p.V281A	SCN5A_ENST00000449557.2_Missense_Mutation_p.V281A|SCN5A_ENST00000455624.2_Missense_Mutation_p.V281A|SCN5A_ENST00000450102.2_Missense_Mutation_p.V281A|SCN5A_ENST00000451551.2_Missense_Mutation_p.V281A|SCN5A_ENST00000414099.2_Missense_Mutation_p.V281A|SCN5A_ENST00000423572.2_Missense_Mutation_p.V281A|SCN5A_ENST00000333535.4_Missense_Mutation_p.V281A|SCN5A_ENST00000443581.1_Missense_Mutation_p.V281A|SCN5A_ENST00000425664.1_Missense_Mutation_p.V281A	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	281					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAAGTTGCGCACGCACTTGTG	0.587000													21	79					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936505	74936505	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:74936505C>T	ENST00000569840.2	+	14	2180	c.1606C>T	c.(1606-1608)Ccc>Tcc	p.P536S	MGAT5B_ENST00000428789.2_Missense_Mutation_p.P545S|MGAT5B_ENST00000301618.4_Missense_Mutation_p.P534S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	536						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTTGGCTTCCCCTACGAGGG	0.652000													25	155					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474245	73474245	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:73474245G>A	ENST00000252034.7	+	23	1843	c.1444G>A	c.(1444-1446)Gga>Aga	p.G482R	ELN_ENST00000380576.5_Missense_Mutation_p.G463R|ELN_ENST00000458204.1_Missense_Mutation_p.G472R|ELN_ENST00000380584.4_Missense_Mutation_p.G449R|ELN_ENST00000414324.1_Missense_Mutation_p.G458R|ELN_ENST00000357036.5_Missense_Mutation_p.G487R|ELN_ENST00000380575.4_Missense_Mutation_p.G453R|ELN_ENST00000320399.6_Missense_Mutation_p.G482R|ELN_ENST00000445912.1_Missense_Mutation_p.G482R|ELN_ENST00000380562.4_Missense_Mutation_p.G488R|ELN_ENST00000429192.1_Missense_Mutation_p.G468R|ELN_ENST00000380553.4_Missense_Mutation_p.G346R|ELN_ENST00000320492.7_Missense_Mutation_p.G401R|ELN_ENST00000358929.4_Missense_Mutation_p.G517R|CTB-51J22.1_ENST00000435932.1_RNA	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	511	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGTGGCTCCTGGAGTTGGCGT	0.572000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						79	208					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7689558	7689558	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:7689558C>T	ENST00000572933.1	+	40	7706	c.6246C>T	c.(6244-6246)atC>atT	p.I2082I	DNAH2_ENST00000389173.2_Silent_p.I2082I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2082	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACCATGATCGTGGGCTGCA	0.572000													19	50					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175577921	175577921	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:175577921C>T	ENST00000274093.3	-	9	1591	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	GLRA3_ENST00000340217.5_Intron	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	363					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AAAACTTCTCCAGTGCAAAAG	0.353000													7	44					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10394406	10394406	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:10394406C>T	ENST00000264832.3	+	3	906	c.581C>T	c.(580-582)cCc>cTc	p.P194L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	194					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GACCTGCGGCCCCAAGGGCTG	0.622000													3	23					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585775	178585775	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:178585775C>T	ENST00000251582.7	-	6	1182	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D361N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	361	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607000													27	100					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367406	99367406	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:99367406G>A	ENST00000336411.2	-	6	689	c.506C>T	c.(505-507)cCt>cTt	p.P169L	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	169					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CAAGGTGACAGGCTTGCCTGT	0.522000													12	130					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225594435	225594435	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:225594435C>T	ENST00000338179.2	-	11	1539	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	LBR_ENST00000272163.4_Missense_Mutation_p.A472T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	472					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAATAAAAGGCTTGGAAGCTG	0.398000													16	42					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40777365	40777365	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:40777365G>A	ENST00000372748.3	-	9	536	c.440C>T	c.(439-441)cCa>cTa	p.P147L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	147	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGGCCCCGATGGTCCATCTGG	0.612000													9	86					0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41331087	41331087	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:41331087C>T	ENST00000323563.6	-	4	698	c.662G>A	c.(661-663)aGa>aAa	p.R221K		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	221						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		AAGCTCTGGTCTTGAACGAAC	0.368000													25	46					0	0	1	0	0
TXNL4B	54957	broad.mit.edu	37	16	72120625	72120625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:72120625G>A	ENST00000268483.3	-	4	682	c.361C>T	c.(361-363)Cga>Tga	p.R121*	TXNL4B_ENST00000423037.1_Nonsense_Mutation_p.R121*|TXNL4B_ENST00000426362.2_Nonsense_Mutation_p.R121*|RP11-384M15.3_ENST00000561827.1_RNA	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	121					mitosis|mRNA processing|RNA splicing	spliceosomal complex		p.R121*(1)		cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						ATTGCTCCTCGATAGATTACT	0.368000													5	41					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685744	248685744	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:248685744G>A	ENST00000343414.4	+	1	829	c.797G>A	c.(796-798)aGa>aAa	p.R266K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAATAGGAGATCCAAAAAC	0.443000													76	67					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296610	62296610	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:62296610G>A	ENST00000378024.4	-	5	5553	c.5279C>T	c.(5278-5280)cCa>cTa	p.P1760L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1760					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCCTTCTGGTCCCTCAAT	0.478000													84	143					0	0	1	0	0
NBPF15	284565	broad.mit.edu	37	1	148594470	148594470	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:148594470C>T	ENST00000442702.2	+	21	2910	c.1843C>T	c.(1843-1845)Ccg>Tcg	p.P615S	NBPF15_ENST00000369187.3_Missense_Mutation_p.P615S	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	615	NBPF 6.		P -> Q (in dbSNP:rs6695216).			cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TTATTCGACTCCGTCAATGTA	0.448000													326	344					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117250629	117250629	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:117250629C>T	ENST00000003084.6	+	19	3177	c.3045C>T	c.(3043-3045)atC>atT	p.I1015I	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.I954I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1015	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACCCTACATCTTTGTTGCAA	0.373000									Cystic Fibrosis				27	49					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131857859	131857859	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:131857859G>A	ENST00000318080.2	-	14	1992	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	566					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CCACGGGCCCGAAGAACATGA	0.622000													16	20					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71650107	71650107	+	Missense_Mutation	SNP	A	A	C	rs144082774		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:71650107A>C	ENST00000409544.1	+	22	4093	c.3463A>C	c.(3463-3465)Aca>Cca	p.T1155P	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.T1155P|ZNF638_ENST00000409407.1_Missense_Mutation_p.T95P	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1155	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAAAAAGCAACATGTGATTC	0.413000													45	101					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112298	248112298	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:248112298C>T	ENST00000357191.3	+	1	139	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATGATTCTTCTCATCTTCTT	0.413000													92	583					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025619	203025619	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:203025619C>T	ENST00000367240.2	+	17	2687	c.2160C>T	c.(2158-2160)agC>agT	p.S720S	PPFIA4_ENST00000599966.1_Silent_p.S235S|PPFIA4_ENST00000295706.4_Silent_p.S235S|PPFIA4_ENST00000447715.2_Silent_p.S719S|PPFIA4_ENST00000272198.6_Silent_p.S235S|PPFIA4_ENST00000414050.2_Silent_p.S448S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	235					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGCCCTGAGCCAGGAAGAAG	0.572000													10	49					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875638	46875638	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:46875638C>T	ENST00000359759.4	+	1	215	c.194C>T	c.(193-195)aCc>aTc	p.T65I	COL18A1_ENST00000355480.5_Missense_Mutation_p.T65I|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	65					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACACACGTGACCCCCCGGAAT	0.637000													53	129					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265424	140265424	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:140265424C>T	ENST00000458420.3	+	10	1765	c.1575C>T	c.(1573-1575)cgC>cgT	p.R525R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	525					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCACCATCCGCCCTGGCAAAA	0.502000										HNSCC(16;0.037)			17	35					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161123	132161123	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:132161123G>A	ENST00000511190.1	-	6	1595	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	USP26_ENST00000406273.1_Missense_Mutation_p.H376Y|USP26_ENST00000370832.1_Missense_Mutation_p.H376Y	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	376					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCATTGCCATGGAATATCTCT	0.363000													22	153					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21739436	21739436	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:21739436C>T	ENST00000399496.3	+	5	707	c.541_splice	c.e5-1	p.A181_splice	CABYR_ENST00000399499.1_Splice_Site_p.A181_splice|CABYR_ENST00000327201.6_Splice_Site_p.A83_splice|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399481.2_3'UTR|CABYR_ENST00000581397.1_Splice_Site_p.A181_splice	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	181					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TTTTTTATAGCAATGGCAACA	0.378000													15	76					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074319	32074319	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:32074319G>A	ENST00000438447.1	+	18	3495	c.3107G>A	c.(3106-3108)gGt>gAt	p.G1036D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1036D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1036					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTCTTCTTGGTAGCTCAGTG	0.577000													82	71					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744754	17744754	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:17744754G>A	ENST00000380060.3	+	6	2803	c.2465G>A	c.(2464-2466)aGg>aAg	p.R822K	NHS_ENST00000398097.3_Missense_Mutation_p.R666K	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	822						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATCTCTTTCAGGAAACCAAAG	0.498000													27	167					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121528218	121528218	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:121528218T>A	ENST00000305949.1	+	18	2078	c.2033T>A	c.(2032-2034)cTt>cAt	p.L678H		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	678	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTCTGAACTTCAGTCTCGT	0.403000													55	55					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233750080	233750080	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:233750080G>A	ENST00000366621.3	+	1	331	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	55						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GCTGCGCCAGGAGCTGCGCAA	0.632000													19	15					0	0	1	0	0
FANCF	2188	broad.mit.edu	37	11	22646955	22646955	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:22646955G>A	ENST00000327470.3	-	1	432	c.402C>T	c.(400-402)gcC>gcT	p.A134A	AC103801.2_ENST00000428556.2_5'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	134					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGGCAAGGCGGGCCAGGCTCT	0.647000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	76	164					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179323291	179323291	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179323291C>T	ENST00000409117.3	+	5	960	c.604C>T	c.(604-606)Cca>Tca	p.P202S	DFNB59_ENST00000375129.4_Missense_Mutation_p.P202S|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	202					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TATTGTTTTCCCAGCACATAC	0.338000													26	88					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933628	44933628	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:44933628C>T	ENST00000291187.4	-	6	1632	c.1310G>A	c.(1309-1311)tGt>tAt	p.C437Y	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.C443Y|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGACTTGGCACAGAAGCCTTT	0.562000													12	47					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258430	9258430	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:9258430C>T	ENST00000383440.2	+	8	5353	c.5096C>T	c.(5095-5097)gCc>gTc	p.A1699V	ANKRD12_ENST00000262126.3_Missense_Mutation_p.A1722V|ANKRD12_ENST00000400020.3_Missense_Mutation_p.A1699V	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1722						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAAGAAAATGCCGAAGATGAT	0.343000													9	18					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41155163	41155163	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:41155163G>A	ENST00000263413.3	-	14	2276	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	C6_ENST00000337836.5_Missense_Mutation_p.S671L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	671	C5b-binding domain.|Sushi 1.				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)				AGTAAGGCATGAAATTTCAAC	0.398000													21	99					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113699689	113699689	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:113699689G>A	ENST00000512097.3	+	3	1591	c.573G>A	c.(571-573)agG>agA	p.R191R	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Silent_p.R191R			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	191						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACCACGCCAGGGAAATACAGG	0.493000													10	80					0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44524593	44524593	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:44524593G>A	ENST00000355451.6	-	2	762	c.483C>T	c.(481-483)gtC>gtT	p.V161V		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	161										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GTTCCCTAGGGACTTCAGCAG	0.498000													11	36					0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681359	125681359	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:125681359C>T	ENST00000373656.3	-	2	928	c.855G>A	c.(853-855)ctG>ctA	p.L285L	ZBTB26_ENST00000373654.1_Silent_p.L285L	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						CGTAGTTCTCCAGGTGACGAA	0.473000													39	120					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164725712	164725712	+	Silent	SNP	T	T	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:164725712T>G	ENST00000264382.3	-	36	4316	c.4254A>C	c.(4252-4254)ccA>ccC	p.P1418P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1418	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGAAATAAGGTGGATAATTTA	0.264000										HNSCC(35;0.089)			17	36					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5286426	5286426	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:5286426G>A	ENST00000262477.6	+	18	2721	c.2497G>A	c.(2497-2499)Gag>Aag	p.E833K	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Missense_Mutation_p.E833K|RABEP1_ENST00000537505.1_Missense_Mutation_p.E790K|RABEP1_ENST00000408982.2_Missense_Mutation_p.E800K|RABEP1_ENST00000341923.6_Missense_Mutation_p.E800K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	833					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GGTGCAGTTAGAGCGGATCCG	0.463000													19	39					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266848	6266848	+	Nonsense_Mutation	SNP	G	G	A	rs121913065		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:6266848G>A	ENST00000264870.3	-	4	779	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGACTGGTTCGAAGTACGCCA	0.458000													64	108					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34119268	34119268	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:34119268G>A	ENST00000341394.4	+	18	2214	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K	CAPRIN1_ENST00000530820.1_Silent_p.K675K|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000529307.1_Silent_p.K594K|CAPRIN1_ENST00000532820.1_Silent_p.K675K|CAPRIN1_ENST00000389645.3_Silent_p.K675K	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	675					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AGAATTTCAAGCGAGGCTCTG	0.443000													42	88					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094051	72094051	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:72094051G>A	ENST00000355906.5	+	7	541	c.483G>A	c.(481-483)cgG>cgA	p.R161R	HP_ENST00000398131.2_Silent_p.R102R|HP_ENST00000562526.1_Intron|HP_ENST00000565574.1_Silent_p.R102R|HP_ENST00000570083.1_Silent_p.R102R|HPR_ENST00000356967.5_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	161					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CAGTGCAGCGGATCCTGGGTG	0.532000													6	25					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584309	7584309	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:7584309C>T	ENST00000379802.3	+	24	7155	c.6814C>T	c.(6814-6816)Ctt>Ttt	p.L2272F	DSP_ENST00000418664.2_Missense_Mutation_p.L1673F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2272	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAACAGAAGCTTGGCATTTA	0.468000													39	68					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650496	51650496	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:51650496G>A	ENST00000317643.6	+	6	1212	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	SIGLEC7_ENST00000305628.7_Silent_p.K288K|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	381					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTGCAGGAAGAAATCGGCAA	0.572000													9	45					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176651	8176651	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:8176651G>A	ENST00000520004.1	-	6	3498	c.3234C>T	c.(3232-3234)ccC>ccT	p.P1078P	SGK223_ENST00000330777.4_Silent_p.P1078P			Q86YV5	SG223_HUMAN		1078	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CCTGGGCAGGGGGGTGTGTGG	0.706000													43	73					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9263815	9263815	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:9263815C>T	ENST00000383440.2	+	9	5880	c.5623C>T	c.(5623-5625)Cca>Tca	p.P1875S	ANKRD12_ENST00000262126.3_Missense_Mutation_p.P1898S|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1875S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1898						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACTGTCAGATCCACTTAAAGA	0.289000													10	67					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362919	22362919	+	RNA	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:22362919G>A	ENST00000390438.2	+	0	178																											GTTGCAGGAGGAACCAGAGCC	0.483000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	73					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459984	107459984	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:107459984G>A	ENST00000409382.3	-	2	1060	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ST6GAL2_ENST00000409087.3_Silent_p.F150F|ST6GAL2_ENST00000361686.4_Silent_p.F150F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	150					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.F150L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGGGGGAAGGGAATCCCAATG	0.612000													85	155					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532834	84532834	+	RNA	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:84532834C>T	ENST00000527857.1	+	0	2856					NR_026851.1																						ATTTCCAATTCCTTTTCCCAT	0.443000													4	18					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279738	152279738	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:152279738C>T	ENST00000368799.1	-	3	7659	c.7624G>A	c.(7624-7626)Gac>Aac	p.D2542N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2542	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)			CCAGAGCTGTCGGCCCGAGAG	0.582000									Ichthyosis				137	637					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564875	46564875	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:46564875G>A	ENST00000458649.2	-	7	1110	c.692C>T	c.(691-693)tCa>tTa	p.S231L	AMBRA1_ENST00000528950.1_Missense_Mutation_p.S231L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S231L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S231L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S231L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S231L|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S231L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	231					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AACTGGCTGTGATTGCAGGAG	0.572000													25	38					0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874828	117874828	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:117874828T>C	ENST00000357099.4	+	4	601	c.428T>C	c.(427-429)aTt>aCt	p.I143T	ANKRD7_ENST00000265224.4_Missense_Mutation_p.I123T|ANKRD7_ENST00000417525.1_Missense_Mutation_p.I70T|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.I70T			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	123					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						CTGAGGGATATTCGTTATAAT	0.373000													20	88					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84249096	84249096	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:84249096G>A	ENST00000376499.3	-	7	1557	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Missense_Mutation_p.L109F	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	165	Gly/Pro-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GACAGCGCAAGAAGGCCGGCA	0.602000													4	7					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274469	74274469	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:74274469G>A	ENST00000295897.4	+	4	518	c.429G>A	c.(427-429)gaG>gaA	p.E143E	ALB_ENST00000503124.1_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000509063.1_Silent_p.E143E	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	143	Albumin 1.		E -> K (in Nagoya).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGAGACCAGAGGTTGATGTGA	0.383000													19	47					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9843463	9843463	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:9843463G>A	ENST00000396115.1	-	8	916	c.606C>T	c.(604-606)tcC>tcT	p.S202S	GAS7_ENST00000579158.1_Silent_p.S214S|GAS7_ENST00000432992.2_Silent_p.S262S|GAS7_ENST00000323816.4_Silent_p.S198S|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Silent_p.S198S|GAS7_ENST00000437099.2_Silent_p.S198S|GAS7_ENST00000542249.1_Silent_p.S207S|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Silent_p.S122S	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	262	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTGAAGCCAAGGAGTTCTGAG	0.507000			T	MLL	AML*								74	141					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55359008	55359008	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:55359008C>T	ENST00000290552.7	+	1	1337	c.5C>T	c.(4-6)tCc>tTc	p.S2F	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCACCATGTCCTTCCCACAC	0.627000													7	38					0	0	1	0	0
STK16	8576	broad.mit.edu	37	2	220111842	220111842	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:220111842C>G	ENST00000409638.3	+	4	486	c.314C>G	c.(313-315)aCg>aGg	p.T105R	STK16_ENST00000409260.1_Missense_Mutation_p.T150R|STK16_ENST00000396738.2_Missense_Mutation_p.T105R|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000409516.3_Intron|STK16_ENST00000409743.1_Missense_Mutation_p.T105R	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	105	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGAGGTACGCTGTGGAAT	0.517000													19	27					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25028503	25028503	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:25028503G>A	ENST00000382114.4	-	3	513	c.328C>T	c.(328-330)Cat>Tat	p.H110Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	110						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TATTCAAGATGAAAAAGTCCA	0.388000													20	60					0	0	1	0	0
COX6B2	125965	broad.mit.edu	37	19	55865856	55865856	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:55865856C>T	ENST00000593184.1	-	2	113	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	COX6B2_ENST00000590900.1_Missense_Mutation_p.G12R|COX6B2_ENST00000326529.4_Missense_Mutation_p.G12R|COX6B2_ENST00000588572.1_Missense_Mutation_p.G12R|CTD-2105E13.6_ENST00000591954.3_3'UTR			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	12						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GACCATTTCCCCTTGGGGGGC	0.657000													58	147					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391529	61391529	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:61391529G>A	ENST00000370501.3	+	4	1538	c.1167G>A	c.(1165-1167)agG>agA	p.R389R	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	389						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GGCGGCGCAGGAGGAAGAGGC	0.642000													19	157					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643310	31643310	+	Silent	SNP	G	G	A	rs149497264		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:31643310G>A	ENST00000375494.3	+	1	81	c.81G>A	c.(79-81)acG>acA	p.T27T		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	27	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TGCTAGAGACGGTGGGCACGC	0.602000													34	61					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058429	95058429	+	Silent	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:95058429G>T	ENST00000329597.7	+	6	1284	c.1074G>T	c.(1072-1074)tcG>tcT	p.S358S	SERPINA3_ENST00000553947.1_5'UTR|SERPINA5_ENST00000553780.1_Silent_p.S358S|SERPINA5_ENST00000554276.1_Silent_p.S358S|SERPINA5_ENST00000554866.1_Silent_p.S358S	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	358					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGGACGAGTCGGGAACCAGAG	0.572000													31	248					2.08457e-15	2.13949e-15	1	1	0
VGLL3	389136	broad.mit.edu	37	3	86996214	86996214	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:86996214A>C	ENST00000398399.2	-	4	1304	c.941T>G	c.(940-942)cTa>cGa	p.L314R		NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTGATGCTGTAGACCTGGAAC	0.363000													7	70					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555837	45555837	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:45555837C>T	ENST00000588982.1	-	4	2155	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E552K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E552K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E552K|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E552K			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	552						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGTGTCTCCTCGAACTGCCGC	0.726000													9	10					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263943	34263943	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:34263943C>T	ENST00000262622.3	+	4	2008	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	CHST8_ENST00000438847.2_Missense_Mutation_p.S417F|CHST8_ENST00000434302.1_Missense_Mutation_p.S417F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	417					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCAACTATTCCAAGCCCTTT	0.622000													13	24					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47405405	47405405	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:47405405C>T	ENST00000285039.7	-	24	3485	c.3186G>A	c.(3184-3186)gaG>gaA	p.E1062E	MYO5B_ENST00000324581.6_Silent_p.E203E	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1062					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGGATCGCTCCTCCTCCAGTT	0.473000													29	37					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261343	16261343	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:16261343G>A	ENST00000375759.3	+	11	8812	c.8608G>A	c.(8608-8610)Ggc>Agc	p.G2870S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2870	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCATCCAAAGGCCCTCAAGC	0.542000													9	41					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163253416	163253416	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:163253416G>A	ENST00000332142.5	-	11	2546	c.2447C>T	c.(2446-2448)gCc>gTc	p.A816V		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	816					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCCAGGTTTGGCATAAAGATG	0.373000													21	34					0	0	1	0	0
DDOST	1650	broad.mit.edu	37	1	20979419	20979419	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:20979419G>A	ENST00000375048.3	-	9	1144	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	DDOST_ENST00000415136.2_Missense_Mutation_p.P310S|DDOST_ENST00000602624.2_Missense_Mutation_p.P330S	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	347					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATCAAAGGGGACCCATTTG	0.512000													29	45					0	0	1	0	0
CTSL	1514	broad.mit.edu	37	9	90343253	90343253	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:90343253A>C	ENST00000343150.5	+	4	1228	c.338A>C	c.(337-339)gAg>gCg	p.E113A	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.E113A|CTSL_ENST00000342020.5_Missense_Mutation_p.E113A					cathepsin L																		CTGTTTTATGAGGCCCCCAGA	0.488000													26	52					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111263893	111263893	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:111263893G>A	ENST00000352690.4	+	2	302	c.61_splice	c.e2-1	p.G21_splice	CD96_ENST00000283285.5_Splice_Site_p.G21_splice|CD96_ENST00000438817.2_Splice_Site_p.G21_splice	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	21					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						TTCTTTTCAGGAGTTTGGGAA	0.403000									Opitz Trigonocephaly syndrome				37	103					0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245390	40245390	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:40245390C>T	ENST00000381799.4	+	3	1108	c.384C>T	c.(382-384)gcC>gcT	p.A128A	RHOH_ENST00000505618.1_Silent_p.A128A	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	128					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCCACAGGGCCTCCTGCGTCA	0.592000													20	47					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121031050	121031050	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:121031050T>A	ENST00000392793.1	+	15	5167	c.4896T>A	c.(4894-4896)gaT>gaA	p.D1632E	TECTA_ENST00000264037.2_Missense_Mutation_p.D1632E			O75443	TECTA_HUMAN	tectorin alpha	1632	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAACAGATGATTATGTGACCT	0.512000													54	70					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578849	9578849	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:9578849G>A	ENST00000301480.4	-	10	987	c.774C>T	c.(772-774)acC>acT	p.T258T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTATGGTAGAGGTTTTATTGT	0.373000													22	83					0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3301182	3301182	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:3301182G>A	ENST00000322608.2	-	1	522	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						AAAAAGTGGGGGATCACATTG	0.493000													13	27					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61597295	61597295	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:61597295C>T	ENST00000238508.3	+	6	566	c.507C>T	c.(505-507)ctC>ctT	p.L169L		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TCCAGAATCTCCTGCCTGATG	0.383000													26	31					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004055	126004055	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:126004055G>A	ENST00000299308.3	+	4	1170	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	388						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTGGCTGGGGCCCAGCAGAT	0.493000													19	69					0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140045754	140045754	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:140045754G>A	ENST00000326232.9	-	11	1244	c.1041C>T	c.(1039-1041)ggC>ggT	p.G347G	SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000447932.2_Silent_p.G347G	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	347					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CAGAGATGAAGCCTTGCAAAG	0.498000													18	76					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84255852	84255852	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:84255852C>T	ENST00000308251.4	-	3	1599	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	511						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AAGGCTGGGCCCTCCAGGATT	0.542000													55	113					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2905675	2905675	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:2905675G>A	ENST00000161006.3	-	4	524	c.459C>T	c.(457-459)ttC>ttT	p.F153F	PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Intron	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	153	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CCCGCTCTGAGAACTGTATGG	0.602000													20	62					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713786	142713786	+	RNA	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:142713786C>T	ENST00000369381.2	-	0	819																											TGTCATTTTTCATTGTGCATA	0.289000													23	52					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101351093	101351093	+	Silent	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:101351093C>A	ENST00000534062.1	-	1	91	c.33G>T	c.(31-33)acG>acT	p.T11T	MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	11										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCTCCATCATCGTCTCAAATG	0.512000													5	32					0.184627	0.184627	1	1	0
DNAJC16	23341	broad.mit.edu	37	1	15886035	15886035	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:15886035G>A	ENST00000375847.3	+	8	1202	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	DNAJC16_ENST00000375838.1_Silent_p.K346K|DNAJC16_ENST00000375849.1_Silent_p.K346K	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	346					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGGTATGAAGAAGCAAATCA	0.423000													16	131					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350131	65350131	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:65350131T>C	ENST00000309295.4	+	9	2253	c.1988T>C	c.(1987-1989)gTt>gCt	p.V663A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	663	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTTCAGGAGTTTTGCAGACA	0.512000													5	55					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644451	158644451	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:158644451G>A	ENST00000368148.3	-	9	1307	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	SPTA1_ENST00000368147.3_Missense_Mutation_p.S376L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	376					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)					AAAGTCAGATGAAAATCGATG	0.453000													43	170					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019948	20019948	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:20019948C>T	ENST00000551509.1	-	1	324	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	91										endometrium(4)|kidney(1)|lung(4)	9						TGAGTGTCTTCATAGCAGAGT	0.632000													45	696					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805253	7805253	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:7805253C>T	ENST00000229304.4	-	3	243	c.223G>A	c.(223-225)Gat>Aat	p.D75N		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	75					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGGTGAAAATCTCTTTCTGAC	0.478000													11	26					0	0	1	0	0
ASB14	142686	broad.mit.edu	37	3	57310699	57310699	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:57310699C>T	ENST00000487349.1	-	10	1763	c.1643G>A	c.(1642-1644)cGg>cAg	p.R548Q	ASB14_ENST00000389601.3_Missense_Mutation_p.R548Q	NM_001142733.2|NM_130387.5	NP_001136205.2|NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	548	SOCS box.				intracellular signal transduction					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CAAATGTAACCGTCCCATGCA	0.408000													18	43					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225802	21225802	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:21225802G>A	ENST00000233242.1	-	29	12619	c.12492C>T	c.(12490-12492)ttC>ttT	p.F4164F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4164					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)	TGAGTCCCTGGAAACTGGCTT	0.473000													40	98					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166405617	166405617	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:166405617C>T	ENST00000402744.4	+	5	1114	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	278					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGCCATTTTCCAAAGCTTGG	0.493000													78	271					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805245	7805245	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:7805245G>A	ENST00000229304.4	-	3	251	c.231C>T	c.(229-231)caC>caT	p.H77H		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	77					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCATGGATGGGTGAAAATCTC	0.488000													9	33					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210057	30210057	+	RNA	SNP	C	C	T	rs146045069	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:30210057C>T	ENST00000518096.1	+	0	669																											TGTCTGACACCGTGATCGAGT	0.488000													26	30					0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32097668	32097668	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:32097668G>A	ENST00000327423.6	-	7	6270	c.6081C>T	c.(6079-6081)acC>acT	p.T2027T	PRR14L_ENST00000434485.1_Intron|PRR14L_ENST00000397493.2_Silent_p.T2027T	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	2027										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGCCCATGGGGGTAAGATTAG	0.423000													27	17					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124765452	124765452	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:124765452G>A	ENST00000306534.3	-	6	1422	c.937C>T	c.(937-939)Ctc>Ttc	p.L313F	ROBO4_ENST00000533054.1_Missense_Mutation_p.L168F	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	313	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCCCAGTGGAGGCCTCCAAGC	0.652000													22	36					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166559	21166559	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:21166559G>A	ENST00000380225.1	-	1	100	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	18					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			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAACAGATGGATTTGTAGCT	0.502000													15	65					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52283227	52283227	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:52283227G>A	ENST00000301190.6	+	4	825	c.598G>A	c.(598-600)Ggg>Agg	p.G200R	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.G65R	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	65										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGACCAGCGGGGGCTCACGGC	0.657000													15	35					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88926236	88926236	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:88926236G>A	ENST00000347404.5	-	3	746	c.174C>T	c.(172-174)gtC>gtT	p.V58V	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Silent_p.V58V	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	58					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CCATCCCGGGGACATATTTGA	0.323000									Testicular Cancer, Familial Clustering of				21	64					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445153	150445153	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:150445153C>T	ENST00000401000.4	+	10	3716	c.3651C>T	c.(3649-3651)ccC>ccT	p.P1217P	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.P1243P			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1243	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTCGAACCCCTTCACAAAGG	0.597000													10	203					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836434	43836434	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:43836434C>T	ENST00000372781.3	+	2	553	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	SEMG1_ENST00000244069.6_Silent_p.L166L	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGAAGAAAGGCTGTGGGTTCA	0.438000													26	84					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166986937	166986937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:166986937C>T	ENST00000061240.2	+	16	2757	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.Q727*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	704	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATCACATCCCAGTTCAACAA	0.393000													24	94					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101200654	101200654	+	RNA	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:101200654C>T	ENST00000313669.7	+	0	1361				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		CTTCCAGATCCCCTGGCCTCC	0.597000													11	24					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894589	166894589	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:166894589C>T	ENST00000423058.2	-	15	2660	c.2643G>A	c.(2641-2643)aaG>aaA	p.K881K	SCN1A_ENST00000409050.1_Silent_p.K853K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Silent_p.K870K|SCN1A_ENST00000303395.4_Silent_p.K881K|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	881						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)	TGCCGATGATCTTTATTAGCA	0.398000													23	65					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345115	20345115	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:20345115C>T	ENST00000298642.2	+	1	725	c.689C>T	c.(688-690)tCc>tTc	p.S230F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCATTCTTCCAGAGGATCA	0.383000													20	350					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222028	118222028	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:118222028G>A	ENST00000402510.2	-	11	3164	c.3165C>T	c.(3163-3165)tcC>tcT	p.S1055S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1055										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCGAGGGCTGGGAAAGGCATC	0.532000													35	176					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539567	56539567	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:56539567C>T	ENST00000390649.3	+	7	1968	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	656						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGGCTGTCCCGTTCCCCTGG	0.592000													14	77					0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179044567	179044567	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:179044567G>A	ENST00000356731.5	-	8	2540	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	HNRNPH1_ENST00000511300.2_Silent_p.F65F|HNRNPH1_ENST00000510411.1_Silent_p.F335F|HNRNPH1_ENST00000442819.2_Silent_p.F335F|HNRNPH1_ENST00000393432.4_Silent_p.F335F|HNRNPH1_ENST00000329433.6_Silent_p.F335F			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	335	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CATGAGTTGCGAACTCGACAT	0.438000													78	91					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43496189	43496189	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:43496189T>C	ENST00000408989.2	+	2	152	c.152T>C	c.(151-153)gTg>gCg	p.V51A	UMODL1_ENST00000400427.1_5'UTR|UMODL1_ENST00000400424.1_5'UTR|UMODL1_ENST00000408910.2_Missense_Mutation_p.V51A	NM_173568.3	NP_775839.3	Q5DID0	UROL1_HUMAN	uromodulin-like 1	51	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGGAGGCCGTGCAGACGTCC	0.592000													53	116					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37298927	37298927	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:37298927C>T	ENST00000310758.4	-	6	919	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.R91Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.R91Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	91					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGACTGGATTCGTTCATGGAG	0.502000													32	54					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129231	152129231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:152129231C>T	ENST00000316073.3	-	3	408	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	115	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTGTGTTTCCTGGGAACTT	0.527000													109	425					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432752	180432752	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:180432752C>T	ENST00000342868.6	+	8	1465	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	427	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	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;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ATGACCAGTCCCTTATTTATA	0.483000													11	60					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141408896	141408896	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:141408896C>T	ENST00000397541.2	+	1	744	c.338C>T	c.(337-339)cCc>cTc	p.P113L	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	113					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCCTCTACTCCCAAAGTAAGT	0.522000													26	102					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456251	5456251	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:5456251C>A	ENST00000222033.4	+	1	826	c.749C>A	c.(748-750)cCc>cAc	p.P250H		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	250						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCTGTCACCCCGTGCTGACC	0.687000													16	72					2.62699e-14	2.69004e-14	1	1	0
ATP8B4	79895	broad.mit.edu	37	15	50212607	50212607	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:50212607C>T	ENST00000284509.6	-	18	1900	c.1758_splice	c.e18-1	p.E587_splice	ATP8B4_ENST00000559829.1_Splice_Site_p.E587_splice	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	587					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCTGCAAATTCCTGCCAGAGA	0.403000													11	27					0	0	1	0	0
CXorf61	203413	broad.mit.edu	37	X	115594041	115594041	+	Translation_Start_Site	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:115594041C>A	ENST00000371894.4	-	0	123					NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61							integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						CCTCTTCTCCCTTCTCGGGAC	0.537000													8	72					0.00307968	0.00309003	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43819244	43819244	+	Missense_Mutation	SNP	C	C	T	rs145090986	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:43819244C>T	ENST00000382031.1	+	5	6318	c.6287C>T	c.(6286-6288)tCc>tTc	p.S2096F	MAP1A_ENST00000300231.5_Missense_Mutation_p.S1858F|MAP1A_ENST00000399453.1_Missense_Mutation_p.S1858F			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1858						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			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)	GCACCCCTCTCCCCAGCTCCT	0.627000													18	21					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427903	135427903	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:135427903G>A	ENST00000394143.1	+	6	2329	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	GPR112_ENST00000412101.1_Missense_Mutation_p.E475K|GPR112_ENST00000370652.1_Missense_Mutation_p.E680K|GPR112_ENST00000394141.1_Missense_Mutation_p.E475K|GPR112_ENST00000287534.4_Missense_Mutation_p.E617K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	680					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGTGCCTAATGAAAATTTTAC	0.433000													18	98					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211328	78211328	+	RNA	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:78211328C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGCAGCCTCTCACCCTGCTCC	0.592000													109	241					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	404102	404102	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:404102G>A	ENST00000331563.2	+	11	2313	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	746					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACGGACTCCGAAAGCTCATC	0.612000													37	68					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48456735	48456735	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:48456735G>A	ENST00000358536.4	-	20	4085	c.3816C>T	c.(3814-3816)gtC>gtT	p.V1272V	PLXNB1_ENST00000296440.6_Silent_p.V1272V|PLXNB1_ENST00000456774.1_Silent_p.V1089V|PLXNB1_ENST00000358459.4_Silent_p.V1089V|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1272	IPT/TIG 3.				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)		TCTGGCCACGGACGCATATCT	0.587000													13	27					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026933	37026933	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:37026933G>A	ENST00000358047.3	+	1	502	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	150										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TACAGGTACTGAAACCGCTGG	0.557000													27	76					0	0	1	0	0
LZTS3	9762	broad.mit.edu	37	20	3146945	3146945	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:3146945G>A	ENST00000329152.3	-	2	1918	c.521C>T	c.(520-522)tCc>tTc	p.S174F	LZTS3_ENST00000337576.5_Missense_Mutation_p.S174F|LZTS3_ENST00000360342.3_Missense_Mutation_p.S174F	NM_014731.2	NP_055546.1																					ATTCTGCATGGAGTGGAAATT	0.607000													5	23					0	0	1	0	0
MROH6	642475	broad.mit.edu	37	8	144650795	144650795	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:144650795A>T	ENST00000398882.3	-	10	1827	c.1571T>A	c.(1570-1572)cTg>cAg	p.L524Q	MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000533679.1_5'UTR	NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		CAGCTTCCGCAgggggccgcg	0.736000													2	2					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574334	28574334	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:28574334C>T	ENST00000220562.4	+	3	1660	c.758C>T	c.(757-759)cCt>cTt	p.P253L	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	253						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)		GTGCTGCGGCCTGCTGAGCTG	0.522000													15	57					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54624244	54624244	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:54624244G>A	ENST00000545554.1	+	14	4429	c.4429G>A	c.(4429-4431)Gaa>Aaa	p.E1477K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E1477K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1475K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1477					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTACAGAGGGAAAAATTCAT	0.318000													2	0					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307048	120307048	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:120307048G>A	ENST00000369406.3	-	2	355	c.306C>T	c.(304-306)atC>atT	p.I102I	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.I102I	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	102					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ACAGGGAGTTGATGTCCTCTT	0.547000													63	98					0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29523699	29523699	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:29523699C>T	ENST00000377050.4	-	2	679	c.456G>A	c.(454-456)aaG>aaA	p.K152K	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	152	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTAAGTTGCCCTTTCTGATGC	0.463000													27	80					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331466	42331466	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:42331466C>T	ENST00000217026.4	+	8	1415	c.1288C>T	c.(1288-1290)Ctg>Ttg	p.L430L	MYBL2_ENST00000396863.4_Silent_p.L406L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	430						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TAGCACCAGTCTGTCCTTCCT	0.612000													12	97					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17201180	17201180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:17201180G>A	ENST00000377799.3	-	7	555	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.Q124*|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.Q89*|TRDMT1_ENST00000377766.5_Missense_Mutation_p.S98L|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.Q146*	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	170					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GGCTCTGACTGAAGCTTTGCA	0.328000													24	80					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848650	73848650	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:73848650T>A	ENST00000523207.1	+	3	1648	c.1060T>A	c.(1060-1062)Ttt>Att	p.F354I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	354					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGCCTGGTATTTTTTGCTGA	0.463000													25	220					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67305454	67305454	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:67305454G>A	ENST00000392676.3	-	4	482	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	ABCA5_ENST00000588877.1_Missense_Mutation_p.R140C|ABCA5_ENST00000392677.2_Missense_Mutation_p.R140C			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	140					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GGAAAAAAACGAAGTTCATAG	0.328000													14	47					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121209082	121209082	+	Silent	SNP	C	C	T	rs149492812		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:121209082C>T	ENST00000297848.3	+	6	759	c.489C>T	c.(487-489)gtC>gtT	p.V163V	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.V163V|COL14A1_ENST00000537875.1_Silent_p.V163V|COL14A1_ENST00000247781.3_Silent_p.V163V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	163	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAATCCTGGTCGATGGTTCAT	0.438000													99	98					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004054	126004054	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:126004054G>A	ENST00000299308.3	+	4	1169	c.1161G>A	c.(1159-1161)ggG>ggA	p.G387G		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	387						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTGGCTGGGGCCCAGCAGA	0.493000													19	70					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254841	51254841	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:51254841A>C	ENST00000404971.1	-	2	1910	c.571T>G	c.(571-573)Tcc>Gcc	p.S191A	NRXN1_ENST00000405581.1_Missense_Mutation_p.S191A|NRXN1_ENST00000402717.3_Missense_Mutation_p.S191A|NRXN1_ENST00000401669.2_Missense_Mutation_p.S191A|NRXN1_ENST00000406859.3_Missense_Mutation_p.S191A|NRXN1_ENST00000405472.3_Missense_Mutation_p.S191A|NRXN1_ENST00000406316.2_Missense_Mutation_p.S191A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	191	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCTGCGAGGAGTTGACCCTC	0.716000													3	14					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876829	139876829	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:139876829G>A	ENST00000297183.6	+	15	3094	c.2970G>A	c.(2968-2970)caG>caA	p.Q990Q	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.Q990Q|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Silent_p.Q990Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCTCAGACGCTTACCG	0.418000													20	117					0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72641531	72641531	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:72641531G>A	ENST00000268097.5	-	8	1378	c.875C>T	c.(874-876)cCc>cTc	p.P292L	HEXA_ENST00000457859.2_Missense_Mutation_p.P100L|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.P292L|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.P303L|HEXA_ENST00000429918.2_Missense_Mutation_p.P119L	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	292					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATTGAGACTGGGATTCACTGG	0.453000													24	42					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343404	248343404	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:248343404C>T	ENST00000359682.2	+	1	117	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TAGTGGCCTTCATGGGAAACT	0.522000													250	376					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6477418	6477418	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:6477418C>T	ENST00000381480.2	-	7	530	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	DENND1C_ENST00000543576.1_Missense_Mutation_p.G96R|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	140	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCTGGGGCCCAGACAGGGAC	0.622000													9	28					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20403822	20403822	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:20403822C>T	ENST00000381150.1	-	4	769	c.379G>A	c.(379-381)Gag>Aag	p.E127K	SDC1_ENST00000403076.1_Missense_Mutation_p.E127K|SDC1_ENST00000254351.4_Missense_Mutation_p.E127K|SDC1_ENST00000482879.1_5'UTR	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	127					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGTGTGGTCTCCCTGGGTCGG	0.706000													26	62					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53761859	53761859	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:53761859C>T	ENST00000341702.3	+	1	315	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	77					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		actctcttgtctctgcacacg	0.473000													8	14					0	0	1	0	0
TRAV10	28676	broad.mit.edu	37	14	22293953	22293953	+	RNA	SNP	G	G	A	rs145164516	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:22293953G>A	ENST00000390432.2	+	0	93																											GAATAGGGGGGAATGGCAAAA	0.443000													12	31					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41010021	41010021	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:41010021C>T	ENST00000352632.3	+	12	1733	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	SPTBN4_ENST00000595535.1_Silent_p.D549D|SPTBN4_ENST00000344104.3_Silent_p.D549D|SPTBN4_ENST00000338932.3_Silent_p.D549D|SPTBN4_ENST00000598249.1_Silent_p.D549D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	549					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACATGGTGGACTGGATGGAGG	0.632000													12	47					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54496497	54496497	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:54496497C>T	ENST00000375135.3	-	4	1786	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	351					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTTCTCTGtccttctcttcct	0.602000													23	18					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990214	56990214	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:56990214C>T	ENST00000371250.3	-	3	861	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	104					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGGTAGAATTCCCCCGTGATG	0.473000													14	37					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542749	133542749	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:133542749G>A	ENST00000409261.1	-	14	2008	c.1635C>T	c.(1633-1635)ccC>ccT	p.P545P	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.P545P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	545							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATCTCTAAGGGACAGCTGC	0.562000													47	104					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692398	135692398	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:135692398C>T	ENST00000513104.1	-	2	960	c.678G>A	c.(676-678)gcG>gcA	p.A226A	TRPC7_ENST00000426057.2_Silent_p.A226A|TRPC7_ENST00000355180.3_Silent_p.A226A	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	226					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCAGCACTCGCCAGTCCTT	0.557000													11	15					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69370420	69370420	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:69370420G>A	ENST00000306875.4	-	2	687	c.573C>T	c.(571-573)atC>atT	p.I191I	RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.9_ENST00000563634.1_Silent_p.I66I|COG8_ENST00000562081.1_Silent_p.I191I	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	191					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGATGACAGGGATGGAAGAGT	0.483000													10	25					0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67159653	67159653	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:67159653C>T	ENST00000307980.2	+	2	149	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	19					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	p.S19F(1)		lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCCGTCCACTCCCTGTCCCGC	0.716000								Other conserved DNA damage response genes					6	15					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367371	107367371	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:107367371C>T	ENST00000542196.1	-	1	580	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAGAATTTCACAGGTGAAA	0.418000													24	132					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334325	35334325	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:35334325G>A	ENST00000373347.1	-	9	2634	c.2366C>T	c.(2365-2367)tCc>tTc	p.S789F	DLGAP3_ENST00000235180.4_Missense_Mutation_p.S789F			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	789					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGGGCAGGGGGATGCGCGGCC	0.721000													28	24					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398436	47398436	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:47398436G>A	ENST00000310638.4	-	11	1392	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	CYP4A11_ENST00000371905.1_Missense_Mutation_p.S454L|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.S455L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	454					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTCTCACCTTGATCCTCCTGA	0.512000													54	310					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400231	89400231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:89400231C>T	ENST00000439576.2	+	12	4789	c.4415C>T	c.(4414-4416)tCt>tTt	p.S1472F	ACAN_ENST00000352105.7_Missense_Mutation_p.S1472F|ACAN_ENST00000559004.1_Missense_Mutation_p.S1472F|ACAN_ENST00000561243.1_Missense_Mutation_p.S1472F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1472					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGACTTCCTTCTGGAGGAGAA	0.517000													50	122					0	0	1	0	0
BEST1	7439	broad.mit.edu	37	11	61727429	61727429	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:61727429G>A	ENST00000449131.2	+	8	920	c.834G>A	c.(832-834)tgG>tgA	p.W278*	BEST1_ENST00000526988.1_Missense_Mutation_p.G300E|BEST1_ENST00000301774.9_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000435278.2_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000378042.3_Nonsense_Mutation_p.W251*|BEST1_ENST00000378043.4_Nonsense_Mutation_p.W338*	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	338					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACATGTACTGGAATAAGCCCG	0.597000													5	11					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101707749	101707749	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:101707749G>A	ENST00000251127.6	-	44	5196	c.5115C>T	c.(5113-5115)ccC>ccT	p.P1705P	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1705						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGTCAGTCATGGGGTTCATTT	0.502000													30	132					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46486834	46486834	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:46486834C>T	ENST00000231751.4	-	12	1746	c.1451G>A	c.(1450-1452)aGg>aAg	p.R484K	LTF_ENST00000417439.1_Missense_Mutation_p.R482K|LTF_ENST00000426532.2_Missense_Mutation_p.R440K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	484	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCCTGCAGTCCTGTCCACGGC	0.567000													25	65					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7605013	7605013	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:7605013G>A	ENST00000316024.5	+	6	3209	c.861G>A	c.(859-861)ccG>ccA	p.P287P	WRAP53_ENST00000457584.2_Silent_p.P287P|WRAP53_ENST00000396463.2_Silent_p.P287P|WRAP53_ENST00000534050.1_Silent_p.P254P|WRAP53_ENST00000431639.2_Silent_p.P287P			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	287					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCTTCTCCCCGGATGGCTCCC	0.602000													23	60					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807096	143807096	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:143807096A>T	ENST00000408979.2	+	1	490	c.421A>T	c.(421-423)Acg>Tcg	p.T141S		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GAGAGTGTGCACGATCCTGGT	0.517000													41	115					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154145317	154145317	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:154145317C>T	ENST00000389740.2	-	2	1261	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	388						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTTCCCATCGGACGCCACT	0.483000													18	47					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819245	43819245	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:43819245C>T	ENST00000382031.1	+	5	6319	c.6288C>T	c.(6286-6288)tcC>tcT	p.S2096S	MAP1A_ENST00000300231.5_Silent_p.S1858S|MAP1A_ENST00000399453.1_Silent_p.S1858S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1858						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.S1858S(1)		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)	CACCCCTCTCCCCAGCTCCTG	0.627000													17	21					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882249	68882249	+	Silent	SNP	C	C	T	rs146411193		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:68882249C>T	ENST00000303786.3	+	3	1143	c.723C>T	c.(721-723)ttC>ttT	p.F241F	PROKR1_ENST00000394342.2_Silent_p.F241F			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	241						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCATAGAATTCGTGGGCCCCG	0.547000													7	109					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390355	197390355	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:197390355G>A	ENST00000367400.3	+	6	1532	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	CRB1_ENST00000535699.1_Missense_Mutation_p.G397E|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.G354E|CRB1_ENST00000543483.1_Missense_Mutation_p.G165E|CRB1_ENST00000538660.1_Missense_Mutation_p.G466E|CRB1_ENST00000544212.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	466	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGCCAGCATGGATTCAGCTGC	0.502000													81	67					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136401925	136401925	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:136401925G>A	ENST00000393061.3	+	2	849		c.e2+1		ADAMTSL2_ENST00000354484.4_Splice_Site|ADAMTSL2_ENST00000393060.1_Splice_Site			Q86TH1	ATL2_HUMAN	ADAMTS-like 2						negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CGGGTCCACGGTGAGTGGGGT	0.607000													19	48					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141636	114141636	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:114141636C>T	ENST00000276198.1	+	6	1763	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.L345L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	345					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCAAAAGCTCATGGAAAAGC	0.383000													85	139					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99848959	99848959	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:99848959C>T	ENST00000373031.4	+	3	465	c.248C>T	c.(247-249)cCt>cTt	p.P83L	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	83						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GAAATTGATCCTGTGACCAGA	0.408000													12	85					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223085957	223085957	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:223085957G>A	ENST00000350526.4	-	6	1078	c.942C>T	c.(940-942)ccC>ccT	p.P314P	PAX3_ENST00000336840.6_Silent_p.P314P|PAX3_ENST00000344493.4_Silent_p.P314P|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Silent_p.P314P|PAX3_ENST00000392069.2_Silent_p.P314P|PAX3_ENST00000409551.3_Silent_p.P313P	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	314					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATAGATGTGGGCTGGTAAG	0.498000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						108	227					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150398676	150398676	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:150398676G>A	ENST00000295910.6	-	8	976	c.924C>T	c.(922-924)atC>atT	p.I308I	FAM194A_ENST00000491361.1_Silent_p.I162I	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	308										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCCTCATAGATATAGTCAA	0.428000													25	50					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071669	240071669	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:240071669G>A	ENST00000255380.4	+	5	1697	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	306					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCAACAGGAGGAAGTATGGCC	0.532000													28	39					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63223509	63223509	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:63223509C>T	ENST00000449996.3	+	19	2072	c.2000C>T	c.(1999-2001)cCc>cTc	p.P667L	RGS9_ENST00000262406.9_Missense_Mutation_p.P670L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	670					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GTCATCTGCCCCTGGGAGAGC	0.607000													9	18					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71410883	71410883	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:71410883G>A	ENST00000392650.3	-	18	2384	c.2384C>T	c.(2383-2385)cCg>cTg	p.P795L	SDK2_ENST00000388726.3_Missense_Mutation_p.P795L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	795	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CACATTGCCCGGAGGGACCGT	0.612000													6	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047822	9047822	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:9047822G>A	ENST00000397910.4	-	5	34012	c.33809C>T	c.(33808-33810)cCt>cTt	p.P11270L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11272	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						ACTCTCTGCAGGATGGGTGAC	0.488000													3	27					0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2744117	2744117	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:2744117G>A	ENST00000510267.1	-	6	1263	c.836C>T	c.(835-837)cCc>cTc	p.P279L	TNIP2_ENST00000503235.1_Missense_Mutation_p.P303L|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Missense_Mutation_p.P386L	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	386						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCTGCAGGGGGTTCTGGCTG	0.647000													7	15					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106070472	106070472	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:106070472C>T	ENST00000357242.5	+	7	1282	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.R370C|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R370C|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.R370C	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	370						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AACAGCTTTTCGCTTCCATGA	0.388000													33	134					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109735360	109735360	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:109735360C>T	ENST00000369939.3	+	14	1994	c.1811C>T	c.(1810-1812)tCt>tTt	p.S604F	KIAA1324_ENST00000529753.1_Missense_Mutation_p.S517F|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	604					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCCTGCACCTCTTGTCCTGCT	0.527000													40	271					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31545314	31545314	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:31545314G>A	ENST00000389082.5	-	19	3617	c.3353C>T	c.(3352-3354)aCc>aTc	p.T1118I	DENND5B_ENST00000306833.6_Missense_Mutation_p.T1153I|DENND5B_ENST00000536562.1_Missense_Mutation_p.T1153I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1118	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGCAACACGGTGAGGCTTCC	0.468000													7	50					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130130909	130130909	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:130130909A>G	ENST00000525842.1	-	2	1227	c.860T>C	c.(859-861)gTc>gCc	p.V287A	ZBTB44_ENST00000357899.4_Missense_Mutation_p.V287A|ZBTB44_ENST00000530205.1_Missense_Mutation_p.V287A|ZBTB44_ENST00000397753.1_Missense_Mutation_p.V287A	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TTTGACCCGGACATCTTCTTC	0.468000													45	92					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356521	149356521	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:149356521C>T	ENST00000355292.3	-	2	1854	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	NR3C2_ENST00000344721.4_Missense_Mutation_p.D498N|NR3C2_ENST00000511528.1_Missense_Mutation_p.D498N|NR3C2_ENST00000512865.1_Missense_Mutation_p.D498N|NR3C2_ENST00000358102.3_Missense_Mutation_p.D498N|NR3C2_ENST00000342437.4_Missense_Mutation_p.D498N			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	498	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			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)	CTCCCATCATCTGGTTCTTGT	0.493000													36	86					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58496393	58496393	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:58496393A>G	ENST00000357552.3	-	4	365	c.140T>C	c.(139-141)tTc>tCc	p.F47S	SYCP2_ENST00000371001.2_Missense_Mutation_p.F47S|SYCP2_ENST00000476314.1_5'UTR			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	47					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CACCTTGTGGAAAAACTGTTT	0.303000													9	11					0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205636	36205636	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:36205636G>A	ENST00000392197.2	+	3	426	c.108G>A	c.(106-108)ggG>ggA	p.G36G	ZBTB32_ENST00000262630.3_Silent_p.G36G			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	36	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACCGTAGGGAGCCAGGAGT	0.642000													38	71					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058501	53058501	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:53058501C>T	ENST00000359798.4	+	5	2512	c.2332C>T	c.(2332-2334)Ctt>Ttt	p.L778F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CTGGTCATCCCTTGTATACCA	0.438000													25	236					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646267	71646267	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:71646267A>T	ENST00000408926.3	+	5	1264	c.730A>T	c.(730-732)Ata>Tta	p.I244L	XKR9_ENST00000520030.1_Missense_Mutation_p.I244L|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	244						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GTTAGGTATAATATGGGCATT	0.279000													16	65					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949143	37949143	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:37949143C>T	ENST00000346872.3	-	4	268	c.207G>A	c.(205-207)gaG>gaA	p.E69E	IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000535189.1_Silent_p.E35E|IKZF3_ENST00000439016.2_Silent_p.E69E|IKZF3_ENST00000439167.2_Silent_p.E35E|IKZF3_ENST00000346243.3_Silent_p.E69E|IKZF3_ENST00000350532.3_Silent_p.E69E|IKZF3_ENST00000377945.3_Silent_p.E69E|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000351680.3_Silent_p.E69E|IKZF3_ENST00000467757.1_Silent_p.E69E|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	69					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTAAAACATTCTCATCTCTTT	0.348000													24	50					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24231643	24231643	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:24231643G>A	ENST00000396671.2	-	5	553	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	THRB_ENST00000416420.1_Missense_Mutation_p.H69Y|THRB_ENST00000356447.4_Missense_Mutation_p.H69Y	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	69	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTCCAGATGGAATATTGAG	0.473000													25	95					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	154003486	154003486	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:154003486G>A	ENST00000369550.5	+	13	1486	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	426					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCCAAAAAAGAGGTGGTTGC	0.468000									Congenital Dyskeratosis				52	89					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41058176	41058176	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:41058176G>A	ENST00000399564.4	-	7	1195	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGAGTGACATGGAAATCAATC	0.522000													9	49					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805847	157805847	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:157805847C>T	ENST00000368174.4	-	3	250	c.154G>A	c.(154-156)Ggc>Agc	p.G52S	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	52	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.G52C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATGTCCCAGCCGTCATCACAC	0.617000													161	144					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90103462	90103462	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:90103462C>T	ENST00000405460.2	+	73	14976	c.14880C>T	c.(14878-14880)ttC>ttT	p.F4960F	GPR98_ENST00000425867.2_Silent_p.F621F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4960					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGAGTTTTCCTGTGGACGT	0.468000													9	22					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314158	58314158	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:58314158G>A	ENST00000219301.4	-	7	1552	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	CCDC113_ENST00000443128.2_3'UTR|CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000567164.1_Silent_p.F386F|PRSS54_ENST00000543437.1_Silent_p.F287F	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	386					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAACAAGCACGAAGGAAACCA	0.468000													7	57					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5112559	5112559	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:5112559G>A	ENST00000315997.5	-	2	426	c.225C>T	c.(223-225)gtC>gtT	p.V75V	C16orf89_ENST00000422873.1_Silent_p.V113V|C16orf89_ENST00000474471.3_Silent_p.V75V|C16orf89_ENST00000472572.3_Silent_p.V75V|C16orf89_ENST00000350219.4_Silent_p.V113V|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	75						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						ACTTCTCCCGGACACTTTTTA	0.537000													37	67					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37605941	37605941	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:37605941C>T	ENST00000505425.1	-	16	2815	c.2816G>A	c.(2815-2817)gGg>gAg	p.G939E	MDGA1_ENST00000434837.2_Intron|MDGA1_ENST00000297153.7_Intron			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	939					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGCACAGCTCCCTCCAGATTC	0.557000													13	15					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394623	29394623	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:29394623C>A	ENST00000377149.1	-	5	1268	c.796G>T	c.(796-798)Gtc>Ttc	p.V266F	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.V266F|OR11A1_ENST00000377148.1_Missense_Mutation_p.V266F			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGGAATGGACAGCAGAGGGT	0.517000													17	101					1.67942e-08	1.7119e-08	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48375094	48375094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:48375094C>T	ENST00000435803.1	+	28	10099	c.10075C>T	c.(10075-10077)Cag>Tag	p.Q3359*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3359					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCCTTTTCCAGAGAAGTGG	0.453000													22	39					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158597458	158597458	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:158597458C>T	ENST00000368148.3	-	40	5801	c.5621G>A	c.(5620-5622)cGa>cAa	p.R1874Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1874Q|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1874					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)					ATTTTGTACTCGGGTCTCATG	0.428000													83	89					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291004	141291004	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:141291004C>T	ENST00000247452.3	-	3	1117	c.770G>A	c.(769-771)gGg>gAg	p.G257E		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	257	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGCATATACCCCTACTGCATT	0.527000										HNSCC(46;0.14)			39	200					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193175241	193175241	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:193175241G>T	ENST00000342695.4	-	15	2010	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	ATP13A4_ENST00000392443.3_Missense_Mutation_p.S544Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	563					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATCGTCCCCAGAAAAAGCCAT	0.473000													40	71					1.49673e-21	1.54501e-21	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3235414	3235414	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:3235414G>A	ENST00000217939.6	-	6	6462	c.6308C>T	c.(6307-6309)cCc>cTc	p.P2103L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2103	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTCCCGTTGGGGAAAACAAA	0.677000													5	21					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48372385	48372385	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:48372385G>A	ENST00000380518.3	-	42	3054	c.2890C>T	c.(2890-2892)Ccc>Tcc	p.P964S	COL2A1_ENST00000337299.6_Missense_Mutation_p.P895S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	964	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTTACAGAGGGACCGTCATCT	0.667000													13	26					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922177	24922177	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:24922177C>T	ENST00000329468.2	+	1	1637	c.1163C>T	c.(1162-1164)aCc>aTc	p.T388I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AAAACAGAGACCATGACAAAC	0.527000													28	38					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331219	17331219	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:17331219G>A	ENST00000452699.1	-	5	634	c.445C>T	c.(445-447)Cac>Tac	p.H149Y	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.H149Y|ATP13A2_ENST00000326735.8_Missense_Mutation_p.H149Y	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	149					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCGCTCTTGTGGAGCTGGGCC	0.632000													13	113					0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69489535	69489535	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:69489535A>T	ENST00000374495.3	+	3	130	c.32A>T	c.(31-33)aAt>aTt	p.N11I	ARR3_ENST00000307959.8_Missense_Mutation_p.N11I			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	11					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACCAGCTCCAATGGGAAGGTG	0.527000													6	17					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133950552	133950552	+	Silent	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:133950552C>A	ENST00000298622.4	+	6	1284	c.1146C>A	c.(1144-1146)ccC>ccA	p.P382P		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TACGGAGACCCAGTTCCTTGA	0.498000													11	27					6.40141e-05	6.45908e-05	1	1	0
CCDC22	28952	broad.mit.edu	37	X	49104003	49104003	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:49104003C>T	ENST00000376227.3	+	8	1126	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	319										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCAGCCACCTCCCGGCGGCCT	0.667000													3	11					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461997	5461997	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:5461997G>A	ENST00000345221.3	-	4	2573	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	NLRP1_ENST00000572272.1_Silent_p.F673F|NLRP1_ENST00000354411.3_Silent_p.F673F|NLRP1_ENST00000262467.5_Silent_p.F673F|NLRP1_ENST00000577119.1_Silent_p.F673F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.F673F	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	673					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGCCCAATAGGAAACGTGTGG	0.498000													38	137					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240374458	240374458	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:240374458G>A	ENST00000319653.9	+	6	4218	c.3988G>A	c.(3988-3990)Gaa>Aaa	p.E1330K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1330	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGAATTTGAGGAATTATTTTC	0.328000													22	108					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131206240	131206240	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:131206240C>T	ENST00000337057.3	-	12	2010	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	EPB41L2_ENST00000530481.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G610E|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G610E|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G610E|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G610E|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G610E	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	610	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCATACCTTTCCTTCAATGAG	0.408000											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	41					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	283916	283916	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:283916C>T	ENST00000538872.1	+	14	3384	c.3266C>T	c.(3265-3267)aCc>aTc	p.T1089I	IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000326261.4_Missense_Mutation_p.T1089I|RP11-598F7.6_ENST00000537295.1_lincRNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1089	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCCCGGGCACCCTGGTGCAG	0.706000													6	16					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													4	35					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826148	43826148	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:43826148C>T	ENST00000389420.3	-	21	3054	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E173K|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1019K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1019	TSP type-1 4.					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)		CAGGAAAATTCATTGCAATTC	0.403000													10	36					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081330	54081330	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:54081330G>A	ENST00000394705.2	-	2	834	c.564C>T	c.(562-564)ctC>ctT	p.L188L	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	188						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGGAAGACAGAGGTGGGACT	0.532000													17	49					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99691319	99691319	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:99691319G>A	ENST00000354649.3	+	1	728	c.13G>A	c.(13-15)Gga>Aga	p.G5R	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.G5R	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GGCTTCAAATGGAGGTGAGCC	0.537000													16	104					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169572424	169572424	+	Silent	SNP	G	G	A	rs145585796		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:169572424G>A	ENST00000263686.6	-	10	1582	c.1545C>T	c.(1543-1545)agC>agT	p.S515S	SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Silent_p.S453S|SELP_ENST00000367793.2_Silent_p.S453S|SELP_ENST00000367792.2_Intron|SELP_ENST00000367788.2_Silent_p.S453S|SELP_ENST00000367791.2_Silent_p.S391S|SELP_ENST00000367794.2_Silent_p.S453S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	515	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CATTCTGAGGGCTTAGCAAAG	0.428000													27	149					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150902515	150902515	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:150902515C>T	ENST00000271640.5	+	3	523	c.333C>T	c.(331-333)agC>agT	p.S111S	SETDB1_ENST00000368963.1_Silent_p.S111S|SETDB1_ENST00000368962.2_Silent_p.S111S|SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Silent_p.S111S	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGACAGTAGCTCTGAGGACG	0.438000													67	80					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66001661	66001661	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:66001661C>T	ENST00000320580.4	+	17	2085	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	PACS1_ENST00000529757.1_Silent_p.F220F	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	684					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTAGTTCCTTCCTGGATTCTG	0.537000													45	116					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806857	2806857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:2806857C>A	ENST00000520002.1	-	69	10924	c.10369G>T	c.(10369-10371)Gga>Tga	p.G3457*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3280*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3456*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3457*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3279*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3280*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3457						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTCTTTTCCATGAATGTCA	0.338000													4	34					0.00024832	0.000249434	1	1	0
OR4K17	390436	broad.mit.edu	37	14	20586066	20586066	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:20586066G>A	ENST00000315543.4	+	1	501	c.501G>A	c.(499-501)atG>atA	p.M167I		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGACCATCATGAACAAGAAGG	0.458000													11	52					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52676362	52676362	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:52676362G>A	ENST00000355568.4	-	10	815	c.676C>T	c.(676-678)Ccg>Tcg	p.P226S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	226	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAAACCCCGGAGATATTGGG	0.423000													51	130					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558462	113558462	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:113558462G>A	ENST00000284601.3	-	1	658	c.590C>T	c.(589-591)cCt>cTt	p.P197L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	197	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTTGATAAGGAGGAACCAA	0.333000													16	66					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146575266	146575266	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:146575266C>A	ENST00000281317.5	+	6	2150	c.940C>A	c.(940-942)Cgc>Agc	p.R314S	MMAA_ENST00000541599.1_Missense_Mutation_p.R33S	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	314						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAATTACTCCGCAAACGTTC	0.428000													45	109					2.00842e-17	2.06844e-17	1	1	0
SYTL4	94121	broad.mit.edu	37	X	99956599	99956599	+	Missense_Mutation	SNP	G	G	A	rs151147513		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:99956599G>A	ENST00000372981.1	-	3	367	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	SYTL4_ENST00000372989.1_Missense_Mutation_p.R61W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R61W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R61W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R61W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R61W			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	61	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCACAGGTCCGATCACTGTAG	0.537000													46	134					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47285696	47285696	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:47285696G>A	ENST00000542575.2	-	4	1396	c.768C>T	c.(766-768)atC>atT	p.I256I	SLC1A5_ENST00000594991.1_Silent_p.I80I|SLC1A5_ENST00000412532.2_Silent_p.I28I|SLC1A5_ENST00000434726.2_Silent_p.I54I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	256					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	p.I256I(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TGAAGAAGCGGATAAGCAGCT	0.602000													33	74					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20109840	20109840	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:20109840G>A	ENST00000541730.1	-	11	1498	c.903C>T	c.(901-903)atC>atT	p.I301I	MBOAT1_ENST00000324607.7_Silent_p.I450I			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	450					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGTATAAGCTGATGGTCGGTT	0.468000													10	116					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26405846	26405846	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:26405846C>T	ENST00000289361.6	+	2	423	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	BTN3A1_ENST00000425234.2_Missense_Mutation_p.L19F|BTN3A1_ENST00000414912.2_Missense_Mutation_p.L19F|BTN3A1_ENST00000476549.2_Missense_Mutation_p.L19F	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	19					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGTCTGCCTCCTTTTGCTTCA	0.468000													23	94					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237272523	237272523	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:237272523G>A	ENST00000409907.3	-	15	2043	c.1769C>T	c.(1768-1770)aCc>aTc	p.T590I	IQCA1_ENST00000431676.2_Missense_Mutation_p.T549I|IQCA1_ENST00000309507.5_Missense_Mutation_p.T587I			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	590							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCCGTTTCGGTGCAGATGGC	0.517000													31	70					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71276536	71276536	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:71276536C>T	ENST00000260382.5	+	11	1369	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	LRRC49_ENST00000443425.2_Missense_Mutation_p.S326F|LRRC49_ENST00000560158.2_Missense_Mutation_p.S58F|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.S375F|LRRC49_ENST00000560691.1_Missense_Mutation_p.S76F|LRRC49_ENST00000544974.2_Missense_Mutation_p.S360F	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	370						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GATTCTGACTCTCCTCAGGAC	0.413000													31	60					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432962	47432962	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:47432962G>A	ENST00000285039.7	-	19	2540	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	747	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGCTCGAAAGAAGATCTTGG	0.557000													10	38					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	47					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95566471	95566471	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:95566471G>A	ENST00000343958.4	-	3	2714	c.2491C>T	c.(2491-2493)Ccc>Tcc	p.P831S	FGD6_ENST00000549499.1_Missense_Mutation_p.P831S|FGD6_ENST00000546711.1_Missense_Mutation_p.P831S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	831					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			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCATCAGAGGGAAGGTCACCA	0.438000													23	78					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201186493	201186493	+	Missense_Mutation	SNP	G	G	A	rs149553166	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:201186493G>A	ENST00000335211.4	+	17	9804	c.9674G>A	c.(9673-9675)cGg>cAg	p.R3225Q	IGFN1_ENST00000295591.8_Missense_Mutation_p.R385Q	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						ACAGCACCTCGGGGCCCCGGC	0.652000													39	128					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869868	174869868	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:174869868G>A	ENST00000393752.2	-	2	1227	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	79					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GCCTTCCAGGGCATGACCAGG	0.552000													17	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604946	179604946	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179604946C>T	ENST00000589042.1	-	48	13238	c.13014G>A	c.(13012-13014)caG>caA	p.Q4338Q	TTN_ENST00000342175.6_Silent_p.Q4167Q|TTN_ENST00000591111.1_Silent_p.Q4021Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.Q4100Q|TTN_ENST00000460472.2_Silent_p.Q3975Q|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4021	Ig-like 23.						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)			TGAGCAGTACCTGCTTTTCTT	0.458000													22	79					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150155604	150155604	+	Silent	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:150155604T>C	ENST00000325307.7	+	4	390	c.294T>C	c.(292-294)tcT>tcC	p.S98S	HMGB3_ENST00000448905.2_Silent_p.S98S	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	98					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAAGGTCTGGATTCTTCC	0.428000													12	75					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811819	13811819	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:13811819C>T	ENST00000265104.4	-	44	7448	c.7344G>A	c.(7342-7344)gaG>gaA	p.E2448E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2448					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCCAGCACCTCCATCTTGT	0.433000									Kartagener syndrome				36	76					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455411	19455411	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:19455411G>A	ENST00000396229.2	+	4	1546	c.797G>A	c.(796-798)aGc>aAc	p.S266N	TMC5_ENST00000542583.2_Missense_Mutation_p.S266N|TMC5_ENST00000381414.4_Missense_Mutation_p.S266N|TMC5_ENST00000541464.1_Missense_Mutation_p.S266N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	266						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGTGCTCAGCAGAACATCT	0.453000													23	70					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9843464	9843464	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:9843464G>A	ENST00000396115.1	-	8	915	c.605C>T	c.(604-606)tCc>tTc	p.S202F	GAS7_ENST00000579158.1_Missense_Mutation_p.S214F|GAS7_ENST00000432992.2_Missense_Mutation_p.S262F|GAS7_ENST00000323816.4_Missense_Mutation_p.S198F|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Missense_Mutation_p.S198F|GAS7_ENST00000437099.2_Missense_Mutation_p.S198F|GAS7_ENST00000542249.1_Missense_Mutation_p.S207F|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.S122F	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	262	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGAAGCCAAGGAGTTCTGAGA	0.502000			T	MLL	AML*								73	141					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678173	48678173	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:48678173C>T	ENST00000352832.5	+	17	4080	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CACNA1G_ENST00000507609.1_Silent_p.F1259F|CACNA1G_ENST00000512389.1_Silent_p.F1259F|CACNA1G_ENST00000358244.5_Silent_p.F1236F|CACNA1G_ENST00000510115.1_Silent_p.F1236F|CACNA1G_ENST00000507336.1_Silent_p.F1259F|CACNA1G_ENST00000505165.1_Silent_p.F1259F|CACNA1G_ENST00000515765.1_Silent_p.F1259F|CACNA1G_ENST00000510366.1_Silent_p.F1259F|CACNA1G_ENST00000514079.1_Silent_p.F1259F|CACNA1G_ENST00000503485.1_Silent_p.F1259F|CACNA1G_ENST00000354983.4_Silent_p.F1236F|CACNA1G_ENST00000514717.1_Silent_p.F1236F|CACNA1G_ENST00000442258.2_Silent_p.F1236F|CACNA1G_ENST00000513689.2_Silent_p.F1259F|CACNA1G_ENST00000513964.1_Silent_p.F1259F|CACNA1G_ENST00000507510.2_Silent_p.F1259F|CACNA1G_ENST00000515411.1_Silent_p.F1259F|CACNA1G_ENST00000515165.1_Silent_p.F1259F|CACNA1G_ENST00000359106.5_Silent_p.F1259F|CACNA1G_ENST00000507896.1_Silent_p.F1259F|CACNA1G_ENST00000416767.4_Silent_p.F1259F|CACNA1G_ENST00000360761.4_Silent_p.F1236F|CACNA1G_ENST00000429973.2_Silent_p.F1259F|CACNA1G_ENST00000502264.1_Silent_p.F1236F|CACNA1G_ENST00000514181.1_Silent_p.F1259F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1259					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTACATCTTCCCTCCTCAGT	0.592000													28	36					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101196829	101196829	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:101196829T>C	ENST00000294728.2	+	6	1381	c.1280T>C	c.(1279-1281)gTt>gCt	p.V427A	VCAM1_ENST00000370119.4_Missense_Mutation_p.V365A|VCAM1_ENST00000347652.2_Missense_Mutation_p.V335A|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	427	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGCTGCAAGGTTCCTAGCGTG	0.463000													11	63					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43932896	43932896	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:43932896G>A	ENST00000537548.1	-	4	859	c.615C>T	c.(613-615)ttC>ttT	p.F205F	MATN4_ENST00000342716.4_Silent_p.F205F|MATN4_ENST00000372754.1_Silent_p.F205F|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Silent_p.F205F|MATN4_ENST00000360607.5_Silent_p.F205F|MATN4_ENST00000353917.5_Silent_p.F205F|MATN4_ENST00000372753.1_Intron			O95460	MATN4_HUMAN	matrilin 4	205	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACTGCAGGCCGAACTCCTGGA	0.617000													30	61					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446526	107446526	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:107446526G>A	ENST00000409382.3	-	5	1924	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	ST6GAL2_ENST00000409087.3_Silent_p.F438F|ST6GAL2_ENST00000361686.4_Silent_p.F438F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	438					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCTACCAATGAAACCAGAAG	0.348000													35	100					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958619	26958619	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:26958619G>A	ENST00000528896.2	-	23	4251	c.4177C>T	c.(4177-4179)Ctg>Ttg	p.L1393L	KIAA0100_ENST00000544884.1_Silent_p.L1250L|KIAA0100_ENST00000389003.3_Silent_p.L1250L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1393						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)					GAGGCCATCAGGTGAACGGTC	0.527000													18	35					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66620283	66620283	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:66620283G>A	ENST00000393960.1	-	14	1819	c.1538C>T	c.(1537-1539)aCc>aTc	p.T513I	PC_ENST00000393958.2_Missense_Mutation_p.T513I|PC_ENST00000393955.2_Missense_Mutation_p.T513I	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	513					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AATCGGGGTGGTTGGACCGTT	0.637000													11	41					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661935	40661935	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:40661935C>T	ENST00000267889.3	+	8	3709	c.3622C>T	c.(3622-3624)Cca>Tca	p.P1208S		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1208					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTCCCGGCCCCCACCAGCCCC	0.647000													30	68					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275399	58275399	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:58275399G>A	ENST00000360374.2	-	1	179	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAAAAGTACA	0.502000													26	51					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210016822	210016822	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:210016822T>C	ENST00000491415.2	+	11	1865	c.1808T>C	c.(1807-1809)tTg>tCg	p.L603S		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	603					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AACAAGATTTTGCCACAGTAT	0.413000													5	30					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537824	55537824	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:55537824A>T	ENST00000220676.1	+	4	1530	c.1382A>T	c.(1381-1383)aAa>aTa	p.K461I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	461					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGACAAAAGAAATCTGTGATT	0.423000													49	56					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150922683	150922683	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:150922683G>A	ENST00000261800.5	-	9	8017	c.8005C>T	c.(8005-8007)Cct>Tct	p.P2669S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2669	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCAGTGAGGAGGGCCTCCA	0.463000													7	91					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22669461	22669461	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:22669461G>A	ENST00000361524.3	-	7	4022	c.3874C>T	c.(3874-3876)Cca>Tca	p.P1292S	ZNF521_ENST00000584787.1_Missense_Mutation_p.P1072S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P1292S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1292					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AACTTCTGTGGACATTGTGTA	0.398000			T	PAX5	ALL								26	41					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063197	72063197	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:72063197C>T	ENST00000305425.4	-	7	2082	c.1660G>A	c.(1660-1662)Ggt>Agt	p.G554S	DACH1_ENST00000354591.4_Missense_Mutation_p.G352S|DACH1_ENST00000359684.2_Missense_Mutation_p.G606S|DACH1_ENST00000313174.7_Missense_Mutation_p.G406S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	604					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GATGGAAAACCTGGAGGCAGT	0.468000													37	136					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026056	64026056	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:64026056C>T	ENST00000540288.1	+	11	1227	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	PLCB3_ENST00000279230.6_Missense_Mutation_p.P375L|PLCB3_ENST00000325234.5_Missense_Mutation_p.P308L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	375	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAGGAGGAACCCTTCATTACC	0.647000													37	82					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48920040	48920040	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:48920040G>A	ENST00000310194.1	+	1	626	c.626G>A	c.(625-627)gGa>gAa	p.G209E	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CATGGGCTGGGAAACTTCCTT	0.522000													23	47					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40976884	40976884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:40976884C>T	ENST00000313164.9	+	16	2466	c.2107C>T	c.(2107-2109)Cag>Tag	p.Q703*	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	703	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCCTAAATGTCAGCGCTGGGA	0.388000													10	10					0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309797	22309797	+	RNA	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:22309797G>A	ENST00000390433.1	+	0	181																											GTACAGACAGGATTGCAGGAA	0.468000													40	36					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40343103	40343103	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:40343103G>A	ENST00000301671.8	-	5	1456	c.1015C>T	c.(1015-1017)Ctt>Ttt	p.L339F	GHDC_ENST00000436923.2_Missense_Mutation_p.L339F|GHDC_ENST00000593209.1_Missense_Mutation_p.L339F|GHDC_ENST00000414034.3_Missense_Mutation_p.L339F|GHDC_ENST00000587427.1_Missense_Mutation_p.L339F|GHDC_ENST00000428494.2_Missense_Mutation_p.L300F			Q8N2G8	GHDC_HUMAN	GH3 domain containing	339						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCGGCCAAAAGGAGGGTGGAG	0.657000													15	83					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66048603	66048603	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:66048603A>T	ENST00000443035.3	-	3	401	c.186T>A	c.(184-186)gaT>gaA	p.D62E	DENND4A_ENST00000431932.2_Missense_Mutation_p.D62E	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	62	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TACAGATATAATCCTGTGGGA	0.383000													3	19					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755538	38755538	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:38755538C>T	ENST00000449082.2	-	21	3714	c.3715G>A	c.(3715-3717)Gaa>Aaa	p.E1239K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1239					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAGAATATTCCAGAATCTTC	0.522000													24	95					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73559030	73559030	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:73559030C>T	ENST00000224721.6	+	50	7237	c.7232C>T	c.(7231-7233)tCc>tTc	p.S2411F	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S166F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2406	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACCAGCCCTCCTACCAGGTG	0.622000													24	19					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196588	58196588	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:58196588G>A	ENST00000483681.1	-	3	627	c.46C>T	c.(46-48)Cac>Tac	p.H16Y	DNASE1L3_ENST00000394549.2_Missense_Mutation_p.H16Y|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.H16Y|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.H16Y			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	16					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	p.H16Y(1)		breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		AGGGCGCTGTGGATGGAGAGG	0.567000													43	77					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155005966	155005966	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:155005966C>T	ENST00000368424.3	-	1	270	c.212G>A	c.(211-213)gGa>gAa	p.G71E	DCST2_ENST00000295536.5_Missense_Mutation_p.G71E	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	71						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCGAGAGAATCCCATGCCCAG	0.657000													80	62					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112572540	112572540	+	Splice_Site	SNP	A	A	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:112572540A>T	ENST00000257604.5	+	3	664		c.e3-1		TRAFD1_ENST00000412615.2_Splice_Site	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1						negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CTATTTCCGTAGCAAAAAAGA	0.393000													19	57					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158549154	158549154	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:158549154G>A	ENST00000367102.2	-	10	1142	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	SERAC1_ENST00000367104.3_Missense_Mutation_p.S334F|SERAC1_ENST00000367101.1_Missense_Mutation_p.S334F			Q96JX3	SRAC1_HUMAN	serine active site containing 1	334					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GCGAACTATAGAAGAATGAAG	0.358000													14	54					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13186432	13186432	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:13186432C>T	ENST00000358552.3	+	5	899	c.899C>T	c.(898-900)tCc>tTc	p.S300F	NFIX_ENST00000360105.4_Missense_Mutation_p.S304F|NFIX_ENST00000585575.1_Missense_Mutation_p.S293F|NFIX_ENST00000397661.2_Missense_Mutation_p.S301F|NFIX_ENST00000587260.1_Missense_Mutation_p.S300F|NFIX_ENST00000592199.1_Missense_Mutation_p.S301F|NFIX_ENST00000587760.1_Missense_Mutation_p.S293F|NFIX_ENST00000588228.1_Missense_Mutation_p.S254F			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	301					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACAGGCCGTTCCCCAGCAGCT	0.617000													7	27					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183664465	183664465	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:183664465C>T	ENST00000511685.1	+	19	3645	c.3522C>T	c.(3520-3522)gcC>gcT	p.A1174A	TENM3_ENST00000406950.2_Silent_p.A1174A|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		AGTTACTGGCCCCAGTGGCGC	0.527000													19	39					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100116928	100116928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:100116928G>A	ENST00000375202.2	+	37	4564	c.3212G>A	c.(3211-3213)cGg>cAg	p.R1071Q	CCDC180_ENST00000529487.1_Missense_Mutation_p.R1071Q|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1042Q					coiled-coil domain containing 180																		GAAGCTGCCCGGATAGAGTTG	0.483000													30	66					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374683	39374683	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:39374683C>T	ENST00000326306.4	+	2	999	c.861C>T	c.(859-861)atC>atT	p.I287I	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Silent_p.I204I	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	287					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.I287I(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TCACAGAAATCATTTCCTTTA	0.428000													11	47					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117655959	117655959	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:117655959C>T	ENST00000317775.6	-	28	4866	c.4181G>A	c.(4180-4182)cGa>cAa	p.R1394Q	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1428Q	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1394					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCATGGTATCGGTTGTCATC	0.473000													71	199					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516850	192516850	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:192516850G>A	ENST00000392452.2	-	2	1121	c.801C>T	c.(799-801)gtC>gtT	p.V267V		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	267										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ACCCACTGATGACCTCTTCCT	0.507000													14	31					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055936	58055936	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:58055936G>A	ENST00000556826.1	-	3	821	c.585C>T	c.(583-585)ttC>ttT	p.F195F	SLC35F4_ENST00000339762.6_Silent_p.F231F|SLC35F4_ENST00000554729.1_Silent_p.F72F	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAACCTACCTGAATTTTTTCA	0.338000													14	30					0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794410	6794410	+	Silent	SNP	G	G	A	rs61749084	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:6794410G>A	ENST00000297435.2	-	2	136	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	4					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.I4I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622000													5	30					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978081	45978081	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:45978081G>T	ENST00000391620.1	-	1	562	c.518C>A	c.(517-519)cCc>cAc	p.P173H	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	173	18 X 5 AA repeats of C-C-X(3).			Missing (in Ref. 3; AAI33678).		keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGAGGGGATGGGCACACAGCA	0.721000													17	124					8.00594e-06	8.12381e-06	1	1	0
RAB40AL	282808	broad.mit.edu	37	X	102193023	102193023	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:102193023C>T	ENST00000218249.5	+	1	824	c.777C>T	c.(775-777)atC>atT	p.I259I	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	259					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AAGTGAAGATCGTCTGCCCAC	0.537000													45	117					0	0	1	0	0
NAT8L	339983	broad.mit.edu	37	4	2065774	2065774	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:2065774G>A	ENST00000423729.2	+	3	829	c.829G>A	c.(829-831)Ggc>Agc	p.G277S	NAT8L_ENST00000331662.3_Missense_Mutation_p.G109S	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	277	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CGTGCTGCCGGGCATGACCCT	0.697000													7	15					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692070	49692070	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:49692070G>A	ENST00000296452.4	+	5	5195	c.5081G>A	c.(5080-5082)aGg>aAg	p.R1694K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1694					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)		GTGGAAGCGAGGAAGTATGGT	0.582000													37	86					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18971692	18971692	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:18971692G>A	ENST00000262803.5	+	17	2630	c.2358G>A	c.(2356-2358)aaG>aaA	p.K786K	UPF1_ENST00000599848.1_Silent_p.K797K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	797					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAGGCGCCAAGCCGGACCAGA	0.607000													8	11					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201746	21201746	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:21201746A>G	ENST00000342679.4	+	2	320	c.71A>G	c.(70-72)gAt>gGt	p.D24G	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	24					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGGAAGAAGGATCTACGGATA	0.572000													46	261					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91709152	91709152	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:91709152A>G	ENST00000359028.2	+	32	7966	c.7741A>G	c.(7741-7743)Aaa>Gaa	p.K2581E	AKAP9_ENST00000356239.3_Missense_Mutation_p.K2569E|AKAP9_ENST00000358100.2_Missense_Mutation_p.K2581E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2581	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGAATATGCAAAATTCTGTCA	0.343000			T	BRAF	papillary thyroid								24	44					0	0	1	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39564933	39564933	+	RNA	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:39564933C>A	ENST00000432258.1	+	0	347				AC003958.2_ENST00000430006.1_RNA																							TCAGGGACTCCAGCTGGGCCT	0.582000													19	22					2.39556e-15	2.45586e-15	1	1	0
ZNF35	7584	broad.mit.edu	37	3	44700594	44700594	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:44700594G>A	ENST00000396056.2	+	4	974	c.739G>A	c.(739-741)Gag>Aag	p.E247K	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.E87K|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	247					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCACACTGGAGAGAAACCCTT	0.463000													29	78					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142161840	142161840	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:142161840C>T	ENST00000519811.1	+	7	1048	c.978C>T	c.(976-978)ttC>ttT	p.F326F	DENND3_ENST00000424248.1_Silent_p.F246F|DENND3_ENST00000262585.2_Silent_p.F246F			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	246										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCCCTTCGTGCCCATCC	0.582000													41	132					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461236	5461236	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:5461236G>A	ENST00000296564.7	+	13	2011	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	597										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAGGAAAAAGAAGATACTCA	0.398000													49	93					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44060866	44060866	+	Silent	SNP	C	C	T	rs147885393	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:44060866C>T	ENST00000344290.5	+	6	1018	c.696C>T	c.(694-696)tcC>tcT	p.S232S	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000415613.2_Silent_p.S232S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Silent_p.S232S|MAPT_ENST00000571987.1_Silent_p.S232S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	232					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCCAAGACTCCCCTCCCTCCA	0.692000													16	39					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755571	39755571	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr21:39755571G>A	ENST00000442448.1	-	11	1414	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	ERG_ENST00000398911.1_Silent_p.A381A|ERG_ENST00000398919.2_Silent_p.A405A|ERG_ENST00000417133.2_Silent_p.A405A|ERG_ENST00000288319.7_Silent_p.A398A|ERG_ENST00000398907.1_Silent_p.A375A|ERG_ENST00000398897.1_Silent_p.A282A|ERG_ENST00000398905.1_Silent_p.A374A|ERG_ENST00000398910.1_Silent_p.A382A|ERG_ENST00000453032.2_Silent_p.A306A	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	405					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GGGGCTGGAGGGCCTGGGCGA	0.582000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								42	118					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118583901	118583901	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:118583901C>T	ENST00000263239.2	+	11	1706	c.1578C>T	c.(1576-1578)gcC>gcT	p.A526A		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	526	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGGCATGCCTTGCTCATTT	0.443000													20	30					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910085	57910085	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:57910085C>T	ENST00000366197.5	+	3	680	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	ZNF548_ENST00000336128.7_Missense_Mutation_p.H156Y|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGGAAGAACCACAGAGTTCA	0.488000													18	62					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100111	168100111	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:168100111G>A	ENST00000409195.1	+	9	2298	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	562					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						AAAATGTTTCGAAACTCAACC	0.373000													21	53					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77105512	77105512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr18:77105512C>T	ENST00000426216.2	+	22	2574	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	ATP9B_ENST00000307671.7_Nonsense_Mutation_p.Q853*|ATP9B_ENST00000543761.1_Nonsense_Mutation_p.Q174*	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	853					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTCACCCACCCAGAAGGCCCG	0.602000													24	84					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036430	39036430	+	Silent	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:39036430G>T	ENST00000167588.3	-	4	755	c.714C>A	c.(712-714)atC>atA	p.I238I		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	238	Linker 12.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTTCATTCATGATGACGCCAA	0.463000													12	129					6.40141e-05	6.45908e-05	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995342	140995342	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:140995342G>A	ENST00000285879.4	+	4	2438	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	718							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGAGTGGGAGGACTCCCT	0.557000										HNSCC(15;0.026)			44	190					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077473	79077473	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:79077473C>T	ENST00000321300.6	+	8	907	c.814C>T	c.(814-816)Ccg>Tcg	p.P272S	BAIAP2_ENST00000428708.2_Missense_Mutation_p.P272S|BAIAP2_ENST00000416299.2_Missense_Mutation_p.P135S|BAIAP2_ENST00000575245.1_Missense_Mutation_p.P305S|BAIAP2_ENST00000321280.7_Missense_Mutation_p.P272S|BAIAP2_ENST00000392411.3_Missense_Mutation_p.P194S|BAIAP2_ENST00000575712.1_Missense_Mutation_p.P272S|BAIAP2_ENST00000435091.3_Missense_Mutation_p.P272S	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	272					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGACCCCATTCCGGGGGCCAA	0.701000													18	42					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086245	175086245	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:175086245C>T	ENST00000239462.4	+	10	2403	c.2290C>T	c.(2290-2292)Ctg>Ttg	p.L764L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	764	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TAGCACTGTCCTGACGGGCCT	0.637000													31	104					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130872803	130872803	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:130872803C>T	ENST00000357462.5	-	2	713	c.620G>A	c.(619-621)aGg>aAg	p.R207K	POTEF_ENST00000409914.2_Missense_Mutation_p.R207K|POTEF_ENST00000361163.4_Missense_Mutation_p.R207K|POTEF_ENST00000360967.5_Missense_Mutation_p.R207K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	207						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGAGCTGTCCTCTTTTTGTT	0.398000													8	76					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78130913	78130913	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:78130913C>T	ENST00000354212.4	-	5	1199	c.946G>A	c.(946-948)Ggc>Agc	p.G316S	MAGI2_ENST00000536571.1_Missense_Mutation_p.G148S|MAGI2_ENST00000535697.1_Missense_Mutation_p.G153S|MAGI2_ENST00000522391.1_Missense_Mutation_p.G316S|MAGI2_ENST00000419488.1_Missense_Mutation_p.G316S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	316	Interaction with DDN.|WW 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGACTTCGCCCTTCTCTGTA	0.433000													32	59					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22231020	22231020	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:22231020G>A	ENST00000379374.4	+	16	2210		c.e16-1		PHEX_ENST00000535894.1_Splice_Site|PHEX_ENST00000418858.3_Splice_Site|PHEX_ENST00000537599.1_Splice_Site	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked						biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CCTTCTCATAGGATTTCCAGC	0.398000													29	145					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79461835	79461835	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:79461835G>A	ENST00000264895.6	+	74	12036	c.11596G>A	c.(11596-11598)Gat>Aat	p.D3866N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3861					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						GATCCTTGATGATTCCCTCAT	0.552000													12	22					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31489165	31489165	+	Silent	SNP	G	G	A	rs148671842	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:31489165G>A	ENST00000322054.5	+	6	1488	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	401					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCCAGGAGGAGTCACAGCGGC	0.622000													4	59					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575925	44575925	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:44575925G>A	ENST00000289547.4	-	4	1839	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V	NPC1L1_ENST00000546276.1_Missense_Mutation_p.A595V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A595V|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A595V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	595					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTCTAAGAAGGCCTCCTCCCA	0.612000													21	99					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878833	5878833	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:5878833C>T	ENST00000537935.1	-	1	131	c.100G>A	c.(100-102)Gga>Aga	p.G34R	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)		AAAGGGACTCCAATCCAAATG	0.458000													51	70					0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37139091	37139091	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:37139091C>G	ENST00000373509.5	+	4	804	c.431C>G	c.(430-432)gCc>gGc	p.A144G		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	235	Protein kinase.		Y -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GAGGAGCTGGCCCGCAGCTTC	0.617000			T	BCL6	NHL								53	97					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241099944	241099944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:241099944G>A	ENST00000366565.1	-	5	670	c.289C>T	c.(289-291)Cat>Tat	p.H97Y	RGS7_ENST00000366562.4_Missense_Mutation_p.H97Y|RGS7_ENST00000366564.1_Missense_Mutation_p.H97Y|RGS7_ENST00000446183.2_Missense_Mutation_p.H13Y|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000331110.7_Missense_Mutation_p.H71Y|RGS7_ENST00000407727.1_Missense_Mutation_p.H97Y|RGS7_ENST00000366563.1_Missense_Mutation_p.H97Y|RGS7_ENST00000401882.1_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	97	DEP.				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|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTGAGGACATGATCTGAGATT	0.398000													51	78					0	0	1	0	0
CCDC160	347475	broad.mit.edu	37	X	133379570	133379570	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:133379570A>G	ENST00000517294.1	+	3	1123	c.740A>G	c.(739-741)aAg>aGg	p.K247R	CCDC160_ENST00000370809.4_Missense_Mutation_p.K247R			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	247										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GCTGTTAGGAAGTTAAAGCAT	0.378000													5	15					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245961	166245961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:166245961G>A	ENST00000375437.2	+	27	5935	c.5645G>A	c.(5644-5646)cGa>cAa	p.R1882Q	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1882Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1882Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1882Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1882					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)	ATGGAAGAGCGATTCATGGCA	0.468000													8	62					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318349	48318349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:48318349G>A	ENST00000435803.1	+	18	7582	c.7558G>A	c.(7558-7560)Gac>Aac	p.D2520N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2520					transport	integral to membrane	ATP binding|ATPase activity	p.D2465Y(2)|p.D2520Y(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACATCAATGGACTCCATTGT	0.428000													85	173					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010709	86010709	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:86010709C>T	ENST00000383699.3	+	8	1509	c.882C>T	c.(880-882)ttC>ttT	p.F294F	CADM2_ENST00000407528.2_Silent_p.F285F|CADM2_ENST00000405615.2_Silent_p.F287F	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	285	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACATTCTTTTCCTGAACAAAA	0.433000													17	92					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13121775	13121775	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:13121775G>A	ENST00000319217.7	-	38	5441	c.5194C>T	c.(5194-5196)Ccg>Tcg	p.P1732S	MPDZ_ENST00000447879.1_Missense_Mutation_p.P1699S|MPDZ_ENST00000536827.1_Missense_Mutation_p.P1699S|MPDZ_ENST00000541718.1_Missense_Mutation_p.P1732S|MPDZ_ENST00000546205.1_Missense_Mutation_p.P1746S|MPDZ_ENST00000381022.2_Missense_Mutation_p.P1732S|MPDZ_ENST00000381015.4_Missense_Mutation_p.P1732S|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.P591S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1732	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTTTTCCCGGCTTCTTCTGC	0.468000													20	25					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183601455	183601455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:183601455G>A	ENST00000511685.1	+	9	1715	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	TENM3_ENST00000406950.2_Missense_Mutation_p.G531E					teneurin transmembrane protein 3																		TGCGTTTCTGGAACTTGCCAT	0.423000													5	31					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74324368	74324368	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:74324368C>T	ENST00000377044.4	-	17	3331	c.2792G>A	c.(2791-2793)gGa>gAa	p.G931E	TMEM2_ENST00000377066.5_Missense_Mutation_p.G868E	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	931						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACCAGGCTTTCCAAAAAAGAC	0.448000													25	35					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223062	118223062	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:118223062C>T	ENST00000402510.2	-	11	2130	c.2131G>A	c.(2131-2133)Gat>Aat	p.D711N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	711										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTTGTAAATCAAAGCTGAAA	0.433000													13	49					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230825826	230825826	+	Missense_Mutation	SNP	G	G	C	rs142462148		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:230825826G>C	ENST00000534989.1	+	16	2019	c.1684G>C	c.(1684-1686)Gga>Cga	p.G562R	COG2_ENST00000546013.1_Missense_Mutation_p.G310R|COG2_ENST00000366669.4_Missense_Mutation_p.G621R|COG2_ENST00000366668.3_Missense_Mutation_p.G620R|COG2_ENST00000535166.1_Missense_Mutation_p.G505R			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	621					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCTTCAGAGCGGACACAAGGA	0.453000													31	203					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16010698	16010698	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:16010698T>G	ENST00000352083.6	-	14	1888	c.1811A>C	c.(1810-1812)gAa>gCa	p.E604A	SOX6_ENST00000528429.1_Missense_Mutation_p.E604A|SOX6_ENST00000527619.1_Missense_Mutation_p.E580A|SOX6_ENST00000316399.6_Missense_Mutation_p.E584A|SOX6_ENST00000528252.1_Missense_Mutation_p.E577A|SOX6_ENST00000396356.3_Missense_Mutation_p.E584A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	604					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GACTCGTGCTTCAGCCACAGT	0.522000											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	104					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589591	140589591	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140589591G>A	ENST00000239450.2	+	1	1301	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R34Q	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		371	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R371Q(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGATACGAGACAGAGAC	0.433000													19	82					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502327	20502327	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:20502327G>A	ENST00000315693.2	-	1	592	c.591C>T	c.(589-591)ctC>ctT	p.L197L		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAATGACCAGGAGCTGTAGGA	0.483000													16	69					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220686	55220686	+	RNA	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:55220686G>A	ENST00000413439.1	+	0	808																											AGGACACTCAGGGGTCCCAGC	0.622000													10	27					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1511669	1511669	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:1511669C>T	ENST00000382745.4	-	3	825	c.220G>A	c.(220-222)Gac>Aac	p.D74N	CLCN7_ENST00000262318.8_Missense_Mutation_p.D50N|CLCN7_ENST00000448525.1_Missense_Mutation_p.D50N	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	74						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGTGGAGGGTCCATATCCTGT	0.567000													15	20					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86479772	86479772	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:86479772C>T	ENST00000439827.1	+	4	1582	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S	GRM3_ENST00000546348.1_Silent_p.I418I|GRM3_ENST00000536043.1_Silent_p.I698I|GRM3_ENST00000361669.2_Silent_p.I826I|GRM3_ENST00000394720.2_Missense_Mutation_p.P469S			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane		p.L827V(1)|p.I826I(1)		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)	TTCACATCATCCTGTTTCAAC	0.488000													13	63					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467416	10467416	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:10467416C>T	ENST00000382483.3	-	4	4415	c.4192G>A	c.(4192-4194)Gga>Aga	p.G1398R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1398					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)		TCTGGAAGTCCTTCCTCTTTG	0.557000													161	429					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740800	16740800	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:16740800C>T	ENST00000381323.3	-	10	985	c.765G>A	c.(763-765)gtG>gtA	p.V255V	FAM49A_ENST00000406434.1_Silent_p.V255V|FAM49A_ENST00000355549.2_Silent_p.V255V	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	255						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCCCACCATCACCCTCATGC	0.473000													18	61					0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79175704	79175704	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:79175704G>C	ENST00000377208.5	-	2	1317	c.1106C>G	c.(1105-1107)tCc>tGc	p.S369C	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	369					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GGCCTCGAGGGAGCGCTTCTC	0.652000													10	84					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131683	66131683	+	RNA	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:66131683G>A	ENST00000590019.1	-	0	298																											CAGCCCCTCCGACCTTCTCAC	0.597000													29	90					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750003	30750003	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:30750003C>T	ENST00000262518.4	+	34	9027	c.8642C>T	c.(8641-8643)cCc>cTc	p.P2881L	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2819L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2723L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2881	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GATGAGGCACCCTCATCCACC	0.582000													15	41					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111409736	111409736	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:111409736G>A	ENST00000265162.5	+	2	1026	c.684G>A	c.(682-684)agG>agA	p.R228R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	228					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGATGCCAGGAAATCTTTTC	0.423000													10	31					0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47065744	47065744	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:47065744C>T	ENST00000335972.6	+	16	2022	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	UBA1_ENST00000377351.4_Silent_p.F613F|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	613					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATCCCCTTCCTGACAGAGT	0.577000													14	23					0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59934624	59934624	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:59934624T>G	ENST00000265036.5	-	7	918	c.851A>C	c.(850-852)gAg>gCg	p.E284A	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.E284A|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.E257A	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	284	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				AAGTAGAGGCTCTTTCAAGTG	0.348000													9	53					0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211847733	211847733	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:211847733C>T	ENST00000366999.4	-	2	357	c.219G>A	c.(217-219)cgG>cgA	p.R73R	NEK2_ENST00000366998.3_Silent_p.R73R|NEK2_ENST00000540251.1_Silent_p.R30R	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	73	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		GGTCAATAATCCGATCATAGT	0.408000													23	33					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976164	4976164	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:4976164G>A	ENST00000380371.1	-	1	779	c.780C>T	c.(778-780)gcC>gcT	p.A260A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGGACAACGGCCAGGTTGA	0.468000													10	78					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30897927	30897927	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:30897927G>A	ENST00000375712.3	+	2	514	c.347G>A	c.(346-348)aGa>aAa	p.R116K		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	116	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGAAAAAAGAGGAGTCATT	0.448000													27	45					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801948	185801948	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:185801948G>A	ENST00000302277.6	+	4	2419	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	609						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCATCATATGGAGAAAACCAA	0.328000													23	80					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790138	78790138	+	Missense_Mutation	SNP	A	A	G	rs11999771		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:78790138A>G	ENST00000376767.3	+	14	2505	c.1993A>G	c.(1993-1995)Aaa>Gaa	p.K665E	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatgaaatggaatgg	0.423000													5	16					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100200661	100200661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:100200661G>A	ENST00000209668.2	-	8	1138	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	342					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGCATCCAATGAAAACTTCTT	0.333000													17	100					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73470671	73470671	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:73470671G>C	ENST00000339362.5	+	8	1641	c.1194G>C	c.(1192-1194)ttG>ttC	p.L398F	NEO1_ENST00000560262.1_Missense_Mutation_p.L398F|NEO1_ENST00000261908.6_Missense_Mutation_p.L398F|NEO1_ENST00000558964.1_Missense_Mutation_p.L398F			Q92859	NEO1_HUMAN	neogenin 1	398	Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTCAAGTTTTGGGTCTGGTGA	0.328000													14	34					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422069	53422069	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:53422069C>T	ENST00000377942.3	-	1	706	c.503G>A	c.(502-504)gGg>gAg	p.G168E	PCDH8_ENST00000338862.4_Missense_Mutation_p.G168E	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	168	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGTCTGCAGCCCGTTGGCGCC	0.716000													11	9					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606572	21606572	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:21606572C>T	ENST00000392288.2	+	4	1220	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H243Y	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAAAGAATTCATACTGGAGA	0.343000													7	56					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106629	168106629	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:168106629C>T	ENST00000409195.1	+	9	8816	c.8727C>T	c.(8725-8727)gtC>gtT	p.V2909V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V2687V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2909V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2734					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						AGAAACAAGTCTTCTCTAATA	0.388000													37	62					0	0	1	0	0
GINS1	9837	broad.mit.edu	37	20	25405940	25405940	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:25405940C>T	ENST00000262460.4	+	5	518	c.424C>T	c.(424-426)Cca>Tca	p.P142S	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	142					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						GGATATGAAACCACCAAAAAG	0.318000													24	51					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198274577	198274577	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:198274577G>A	ENST00000335508.5	-	7	912	c.821C>T	c.(820-822)cCa>cTa	p.P274L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	274	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGCATGGCCTGGTGTATCACC	0.547000			Mis		myelodysplastic syndrome								79	175					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334194	77334194	+	Silent	SNP	G	G	A	rs148705153		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:77334194G>A	ENST00000282849.5	-	17	3058	c.2640C>T	c.(2638-2640)atC>atT	p.I880I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	880					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGACTGCACGATACTCCAGG	0.478000													8	44					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514565	161514565	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:161514565C>T	ENST00000367969.3	-	4	794	c.611G>A	c.(610-612)gGc>gAc	p.G204D	FCGR3A_ENST00000443193.1_Missense_Mutation_p.G203D|FCGR3A_ENST00000540048.1_Missense_Mutation_p.G168D|FCGR3A_ENST00000436743.1_Missense_Mutation_p.G168D	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	168					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAGTAGGAGCCGCTGTCTTT	0.448000													62	80					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27278461	27278461	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:27278461G>A	ENST00000320567.5	-	2	499	c.411C>T	c.(409-411)agC>agT	p.S137S		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	137										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CACGATCAGGGCTGGGGGGCA	0.637000													5	36					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98703285	98703285	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:98703285C>T	ENST00000336273.3	+	6	1245	c.917C>T	c.(916-918)tCc>tTc	p.S306F	MTDH_ENST00000519934.1_Missense_Mutation_p.S283F	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	306					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AAGTGGAACTCCGTTTCACCT	0.468000													15	74					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002902	122002902	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:122002902C>T	ENST00000498619.1	+	7	2569	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	CASR_ENST00000490131.1_Missense_Mutation_p.R701C|CASR_ENST00000296154.5_Missense_Mutation_p.R701C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	701					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)	GAAAACCAACCGTGTCCTCCT	0.602000													32	61					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773732	145773732	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:145773732G>A	ENST00000276826.5	-	4	939	c.738C>T	c.(736-738)tcC>tcT	p.S246S	ARHGAP39_ENST00000377307.2_Silent_p.S246S|ARHGAP39_ENST00000540274.1_Silent_p.S246S			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	246	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTGGCTGCCGGAGGGTCTGC	0.687000													24	15					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228758521	228758521	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:228758521G>A	ENST00000373666.2	+	5	964	c.328G>A	c.(328-330)Gga>Aga	p.G110R	DAW1_ENST00000309931.2_Missense_Mutation_p.G110R|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.G95R					dynein assembly factor with WDR repeat domains 1																		CTTTATCACAGGAAGCTATGA	0.443000													19	37					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106678	14106678	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:14106678C>T	ENST00000235372.7	+	8	3244	c.2388C>T	c.(2386-2388)agC>agT	p.S796S	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.S595S|PRDM2_ENST00000343137.4_Silent_p.S595S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.S796S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	796						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAACTGTGAGCCCTCCATGCT	0.473000													25	38					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203552	69203552	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:69203552G>A	ENST00000344157.4	-	3	532	c.197C>T	c.(196-198)tCt>tTt	p.S66F	YTHDC1_ENST00000355665.3_Missense_Mutation_p.S66F|YTHDC1_ENST00000579690.1_Missense_Mutation_p.S66F	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	66										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CAGTTGTCTAGAATGGACAGA	0.328000													16	54					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308294	72308294	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:72308294G>A	ENST00000579490.1	+	11	1953	c.1818G>A	c.(1816-1818)gaG>gaA	p.E606E	DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Silent_p.E549E|DNAI2_ENST00000311014.6_Silent_p.E549E|DNAI2_ENST00000582036.1_Silent_p.E537E			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	549					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCAAGGCCGAGGAGGAGTTCT	0.607000									Kartagener syndrome				19	25					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072795	98072795	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:98072795C>A	ENST00000354924.2	+	1	98	c.98C>A	c.(97-99)gCc>gAc	p.A33D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTGTTCTCTGCCATCTATCTG	0.453000													25	230					2.79863e-10	2.86253e-10	1	1	0
FANCB	2187	broad.mit.edu	37	X	14862651	14862651	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:14862651G>A	ENST00000398334.1	-	9	2406	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	FANCB_ENST00000324138.3_Silent_p.F713F	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	713					DNA repair	nucleoplasm		p.F713F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAATCCCTTCGAATGGTGTTC	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	76					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111263892	111263892	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:111263892G>A	ENST00000352690.4	+	2	301		c.e2-1		CD96_ENST00000283285.5_Splice_Site|CD96_ENST00000438817.2_Splice_Site	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule						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						TTTCTTTTCAGGAGTTTGGGA	0.403000									Opitz Trigonocephaly syndrome				36	102					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031966	33031966	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:33031966C>T	ENST00000340811.4	-	2	332	c.223_splice	c.e2-1	p.G75_splice	PKP2_ENST00000070846.6_Splice_Site_p.G75_splice	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	75					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGAAGATTTCCTGCAATCAA	0.333000													6	36					0	0	1	0	0
ASCC1	51008	broad.mit.edu	37	10	73956612	73956612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:73956612C>T	ENST00000342444.4	-	6	631	c.530G>A	c.(529-531)gGa>gAa	p.G177E	ASCC1_ENST00000317126.4_Missense_Mutation_p.G149E|ASCC1_ENST00000394919.1_Missense_Mutation_p.G149E|ASCC1_ENST00000317168.6_Missense_Mutation_p.G149E|ASCC1_ENST00000394915.3_Missense_Mutation_p.G177E|ASCC1_ENST00000545550.1_Missense_Mutation_p.G171E	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TCTCAGGAATCCTTCCTGAAC	0.408000													17	13					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76717201	76717201	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:76717201C>T	ENST00000369950.3	-	9	1072	c.883G>A	c.(883-885)Gat>Aat	p.D295N	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	295	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AATTACCCATCTTTTTCTTTC	0.264000													11	12					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69431339	69431339	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:69431339A>G	ENST00000317746.2	-	2	866	c.824T>C	c.(823-825)gTt>gCt	p.V275A		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	275					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AACAAAATCAACATTTGGTAA	0.403000													54	113					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494303	7494303	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:7494303G>A	ENST00000486284.1	+	6	1458	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K	GRM7_ENST00000403881.1_Missense_Mutation_p.R395K|GRM7_ENST00000402647.2_Missense_Mutation_p.R395K|GRM7_ENST00000357716.4_Missense_Mutation_p.R395K|GRM7_ENST00000389336.4_Missense_Mutation_p.R395K|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	395					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)	GGACAGGAGAGAATTGGAAAA	0.418000													23	37					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216833	78216833	+	Silent	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:78216833C>A	ENST00000171757.2	+	4	1096	c.816C>A	c.(814-816)acC>acA	p.T272T	P2RY10_ENST00000544091.1_Silent_p.T272T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	272						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TAAAGGAAACCATCATTAGCA	0.428000													45	252					5.20006e-24	5.374e-24	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10370631	10370631	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:10370631G>A	ENST00000397077.1	-	22	4039	c.3464C>T	c.(3463-3465)tCg>tTg	p.S1155L	ATP2B2_ENST00000343816.4_Missense_Mutation_p.S1186L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.S1200L|ATP2B2_ENST00000352432.4_Missense_Mutation_p.S1200L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.S1155L|ATP2B2_ENST00000467702.2_5'UTR			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1200					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCGGGCTCGAGTTCTGCTT	0.552000													22	57					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304015	47304015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:47304015G>A	ENST00000342922.4	+	9	1910	c.1553G>A	c.(1552-1554)cGg>cAg	p.R518Q	MADD_ENST00000349238.3_Missense_Mutation_p.R518Q|MADD_ENST00000395336.3_Missense_Mutation_p.R518Q|MADD_ENST00000395344.3_Missense_Mutation_p.R518Q|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.R518Q|MADD_ENST00000406482.1_Missense_Mutation_p.R518Q|MADD_ENST00000311027.5_Missense_Mutation_p.R518Q|MADD_ENST00000407859.3_Missense_Mutation_p.R518Q|MADD_ENST00000402799.1_Missense_Mutation_p.R518Q	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	518	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTCTTTCCTCGGCCTGTGGTA	0.557000													19	80					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011786	32011786	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:32011786C>T	ENST00000375244.3	-	34	11585	c.11384G>A	c.(11383-11385)gGa>gAa	p.G3795E	TNXB_ENST00000375247.2_Missense_Mutation_p.G3793E|TNXB_ENST00000451343.1_Missense_Mutation_p.G224E			P22105	TENX_HUMAN	tenascin XB	3840					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						GGCACCACCTCCGTCCGCCAG	0.617000													12	12					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31625434	31625434	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:31625434C>T	ENST00000349552.1	+	8	736	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	246						extracellular region	lipid binding										CCTCACGTTCCCTGAGGGTTA	0.577000													27	74					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558206	159558206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:159558206G>A	ENST00000255040.2	+	2	477	c.380G>A	c.(379-381)tGg>tAg	p.W127*		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	127	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GCTGAATTTTGGATCAATGGG	0.478000													21	99					0	0	1	0	0
AC112229.4	0	broad.mit.edu	37	2	111144819	111144819	+	RNA	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:111144819C>T	ENST00000606848.1	-	0	921																											TTAGGGCCTCCACATGGTAGT	0.572000													6	41					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004716	101004716	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:101004716T>A	ENST00000556751.1	-	5	4584	c.1180A>T	c.(1180-1182)Aag>Tag	p.K394*	BEGAIN_ENST00000355173.2_Nonsense_Mutation_p.K458*|BEGAIN_ENST00000443071.2_Nonsense_Mutation_p.K458*			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	458						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCGGCCTTCTTGCCCGGGCTG	0.721000													6	7					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139918661	139918661	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:139918661C>T	ENST00000297183.6	+	33	7686	c.7562C>T	c.(7561-7563)gCc>gTc	p.A2521V	ANKHD1_ENST00000544120.1_Missense_Mutation_p.A845V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A2521V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.A2521V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACTGATGCCCAGCAGGTA	0.368000													6	38					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123471262	123471262	+	Missense_Mutation	SNP	G	G	A	rs111422191		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:123471262G>A	ENST00000360772.3	-	6	667	c.289C>T	c.(289-291)Cat>Tat	p.H97Y	MYLK_ENST00000346322.5_Missense_Mutation_p.H97Y|MYLK_ENST00000475616.1_Missense_Mutation_p.H97Y|MYLK_ENST00000360304.3_Missense_Mutation_p.H97Y|MYLK_ENST00000359169.1_Missense_Mutation_p.H97Y			Q15746	MYLK_HUMAN	myosin light chain kinase	97	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCTCCTCATGGACAGCATGA	0.587000													38	66					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135601921	135601921	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:135601921C>T	ENST00000513104.1	-	5	1614	c.1332G>A	c.(1330-1332)atG>atA	p.M444I	TRPC7_ENST00000426057.2_Missense_Mutation_p.M328I|TRPC7_ENST00000355180.3_Missense_Mutation_p.M383I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	444					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACCCACTTCATAATGAGCA	0.383000													10	112					0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142637533	142637533	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:142637533G>A	ENST00000409607.3	+	2	344	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	76						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AAGAAGACCAGTCGTCCAAGA	0.542000													33	108					0	0	1	0	0
DDOST	1650	broad.mit.edu	37	1	20979418	20979418	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:20979418G>A	ENST00000375048.3	-	9	1145	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	DDOST_ENST00000415136.2_Missense_Mutation_p.P310L|DDOST_ENST00000602624.2_Missense_Mutation_p.P330L	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	347					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCATCAAAGGGGACCCATTT	0.517000													30	45					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130476083	130476083	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:130476083C>T	ENST00000368134.2	-	11	1518	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	SAMD3_ENST00000457563.2_Missense_Mutation_p.E328K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E304K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E304K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	304										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTGTCAATTTCTCTCCAGTCC	0.373000													26	37					0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80915356	80915356	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:80915356G>A	ENST00000576599.1	-	9	1157	c.407C>T	c.(406-408)aCc>aTc	p.T136I	B3GNTL1_ENST00000320865.3_Missense_Mutation_p.T247I			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	247							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GACGCGGTGGGTCCAGATGGT	0.647000													7	8					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132091215	132091215	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:132091215C>T	ENST00000370836.2	-	3	983	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	HS6ST2_ENST00000521489.1_Missense_Mutation_p.V190M|HS6ST2_ENST00000370837.1_Missense_Mutation_p.V44M|HS6ST2_ENST00000370833.2_Missense_Mutation_p.V44M	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	190						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GGGTCCGGCACCGGGGAGCTG	0.622000													19	40					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7441758	7441758	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:7441758C>T	ENST00000318881.6	+	6	1596	c.1359C>T	c.(1357-1359)atC>atT	p.I453I		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	453	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGAGATCATCGGCGTGTGTC	0.443000													15	69					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730676	37730676	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr8:37730676C>T	ENST00000330843.4	-	4	1656	c.1644G>A	c.(1642-1644)gcG>gcA	p.A548A	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	548					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTGGGTTGCGCCTCTGGAG	0.502000													10	54					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176857236	176857236	+	Silent	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:176857236G>T	ENST00000367654.2	-	18	3082	c.3069C>A	c.(3067-3069)ctC>ctA	p.L1023L	ASTN1_ENST00000367657.3_Silent_p.L1015L|ASTN1_ENST00000361833.2_Silent_p.L1015L|ASTN1_ENST00000424564.2_Silent_p.L1015L			O14525	ASTN1_HUMAN	astrotactin 1	1023					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGGTGGGGAGTCCATCAG	0.507000													5	46					0.014758	0.014791	1	1	0
ZWINT	11130	broad.mit.edu	37	10	58119549	58119549	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:58119549C>T	ENST00000373944.3	-	4	360	c.322G>A	c.(322-324)Gag>Aag	p.E108K	ZWINT_ENST00000361148.6_Missense_Mutation_p.E108K|ZWINT_ENST00000395405.1_Missense_Mutation_p.E108K			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	108	Interaction with NDC80 and ZW10.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TTGATGGCCTCTACGTGCTCC	0.537000													25	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640361	179640361	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:179640361G>A	ENST00000589042.1	-	28	6454	c.6230C>T	c.(6229-6231)gCt>gTt	p.A2077V	TTN_ENST00000342175.6_Missense_Mutation_p.A2031V|TTN_ENST00000591111.1_Missense_Mutation_p.A2077V|TTN_ENST00000359218.5_Missense_Mutation_p.A2031V|TTN_ENST00000360870.5_Missense_Mutation_p.A2077V|TTN_ENST00000460472.2_Missense_Mutation_p.A2031V|TTN_ENST00000342992.6_Missense_Mutation_p.A2077V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1840							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)			GATTTTTGGAGCCTCCATACT	0.458000													31	58					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613933	27613933	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:27613933C>T	ENST00000225388.4	-	2	1137	c.1079G>A	c.(1078-1080)aGc>aAc	p.S360N	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	360						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTTAACTTTGCTTGCATAACT	0.413000													43	113					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440109	40440109	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:40440109G>T	ENST00000319592.4	-	4	1511	c.802C>A	c.(802-804)Cag>Aag	p.Q268K	RBM47_ENST00000295971.7_Missense_Mutation_p.Q268K|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.Q268K|RBM47_ENST00000514014.1_Missense_Mutation_p.Q230K|RBM47_ENST00000381793.2_Missense_Mutation_p.Q268K			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	268	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGTTGAACTGGCCGAAGCTC	0.592000													7	87					8.12818e-05	8.19219e-05	1	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215240	140215240	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:140215240G>A	ENST00000525929.1	+	1	1272	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	PCDHA7_ENST00000378125.3_Silent_p.V424V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGCTGGTGGTTACCGCGC	0.632000													76	111					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306773	41306773	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:41306773C>T	ENST00000373198.3	-	7	1121	c.886G>A	c.(886-888)Gag>Aag	p.E296K	PTPRT_ENST00000373201.1_Missense_Mutation_p.E296K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E296K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E296K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E296K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E296K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E296K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	296	Fibronectin type-III 1.				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)				GCCAGCAGCTCTGGGGGAGCA	0.517000													11	31					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236440	33236440	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:33236440C>T	ENST00000401073.2	+	6	1730	c.1660C>T	c.(1660-1662)Cca>Tca	p.P554S	KIAA1522_ENST00000373480.1_Missense_Mutation_p.P495S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P506S|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	495	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCACCCAACCCAGCCAACAG	0.677000													3	15					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294555	29294555	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:29294555G>A	ENST00000331664.5	-	1	2572	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	858					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCCTTGGGGGAGTTCTCTGT	0.607000													25	85					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150352	247150352	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:247150352C>G	ENST00000339986.7	-	4	1612	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	489					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TATGGTTTCTCTCTGGTATGA	0.413000													33	58					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62292766	62292766	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:62292766C>T	ENST00000318100.4	+	3	1045	c.218C>T	c.(217-219)gCc>gTc	p.A73V	RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A73V|RTEL1_ENST00000508582.2_Missense_Mutation_p.A73V|RTEL1_ENST00000360203.5_Missense_Mutation_p.A73V|RTEL1_ENST00000370018.3_Missense_Mutation_p.A73V			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	73	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGCAAGATTGCCGAGAGGGCG	0.637000													24	52					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197081790	197081790	+	Missense_Mutation	SNP	C	C	A	rs143511416		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:197081790C>A	ENST00000260983.2	-	27	4618	c.4436G>T	c.(4435-4437)cGg>cTg	p.R1479L	HECW2_ENST00000409111.1_Missense_Mutation_p.R1123L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1479	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCAGAACCACCGAATTACAAT	0.358000													24	78					1.85244e-09	1.89042e-09	1	1	0
FZD4	8322	broad.mit.edu	37	11	86663456	86663456	+	Silent	SNP	A	A	G			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:86663456A>G	ENST00000531380.1	-	2	647	c.342T>C	c.(340-342)atT>atC	p.I114I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	114	FZ.		I -> T (in EVR1).		canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCATGGGCCAATGGGGATGT	0.448000													37	65					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51138511	51138511	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:51138511G>A	ENST00000301180.5	+	38	4654	c.4620G>A	c.(4618-4620)gtG>gtA	p.V1540V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1540	Poly-Val.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGTTGTGGTGGACCCAGGTG	0.547000													10	53					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156085021	156085021	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:156085021G>A	ENST00000368300.4	+	1	524	c.312G>A	c.(310-312)ctG>ctA	p.L104L	LMNA_ENST00000368299.3_Silent_p.L104L|LMNA_ENST00000368301.2_Silent_p.L104L|LMNA_ENST00000347559.2_Silent_p.L104L|LMNA_ENST00000361308.4_Silent_p.L104L	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	104	Coil 1B.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCCTGCAGCTGGAGCTGAGCA	0.687000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				8	38					0	0	1	0	0
TMEM163	81615	broad.mit.edu	37	2	135470881	135470881	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:135470881C>T	ENST00000281924.6	-	2	275	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	71						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GTGCTGCTTTCTAGTAAGCCT	0.483000													33	74					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120911478	120911478	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:120911478C>T	ENST00000310396.5	+	22	3329	c.2862C>T	c.(2860-2862)ttC>ttT	p.F954F		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GATGTCATTTCCATGAGGTAT	0.338000													10	117					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114354840	114354840	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:114354840C>T	ENST00000261441.5	-	1	258	c.195G>A	c.(193-195)caG>caA	p.Q65Q		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	65						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGCTCCTCCTGCGCCGCCA	0.657000													20	163					0	0	1	0	0
MEIG1	644890	broad.mit.edu	37	10	15008489	15008489	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr10:15008489C>T	ENST00000407572.1	+	2	170	c.22C>T	c.(22-24)Cca>Tca	p.P8S	MEIG1_ENST00000378240.1_Missense_Mutation_p.P8S	NM_001080836.2	NP_001074305.1	Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1	8										kidney(1)|ovary(1)|prostate(1)	3						TGACGTAAAACCAAAATCAGT	0.328000													12	30					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112646400	112646400	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:112646400G>A	ENST00000550722.1	-	51	7859	c.7464C>T	c.(7462-7464)gtC>gtT	p.V2488V	HECTD4_ENST00000430131.2_Silent_p.V2212V|HECTD4_ENST00000377560.5_Silent_p.V2462V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGCTGAGCTCGACTTTATAAT	0.453000													21	46					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32365998	32365998	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr13:32365998C>T	ENST00000298386.2	+	15	1272	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	RXFP2_ENST00000380314.1_Missense_Mutation_p.P377S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	401						integral to membrane|plasma membrane		p.P401S(1)		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)		AATATGTATGCCCTTGACGGA	0.393000													28	72					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90745472	90745472	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:90745472G>A	ENST00000354366.3	-	13	3535	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	NRDE2_ENST00000357904.3_Silent_p.S870S	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TATTTCCTAAGGAAACCTGAG	0.468000													27	146					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598265	81598265	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr7:81598265G>A	ENST00000356860.3	-	29	2671	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S790L|CACNA2D1_ENST00000535308.1_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	790						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATAATGCCCGATTCATAGGC	0.279000													18	120					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978543	38978543	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:38978543C>T	ENST00000269576.5	-	1	304	c.295G>A	c.(295-297)Gga>Aga	p.G99R	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	99	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AAGATGCCTCCATAACTCCCA	0.572000													35	92					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977842	71977842	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:71977842C>T	ENST00000266674.5	+	18	2363	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	LGR5_ENST00000540815.2_Silent_p.I660I|LGR5_ENST00000536515.1_Silent_p.I612I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	684						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGAAAGTAATCATTTTGCTCT	0.522000													45	179					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110389	98110389	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:98110389G>A	ENST00000383695.1	+	1	880	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AAGAAATAAGGAAGTAATAAA	0.264000													19	45					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71384103	71384103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:71384103C>T	ENST00000392650.3	-	30	4266	c.4266G>A	c.(4264-4266)tgG>tgA	p.W1422*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.W1422*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1422	Fibronectin type-III 9.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCCCTGGCTCCCAGGACAGCA	0.701000													2	4					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73562535	73562535	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr15:73562535C>T	ENST00000339362.5	+	18	3126	c.2679C>T	c.(2677-2679)gtC>gtT	p.V893V	NEO1_ENST00000560262.1_Silent_p.V893V|NEO1_ENST00000261908.6_Silent_p.V893V|NEO1_ENST00000558964.1_Silent_p.V893V			Q92859	NEO1_HUMAN	neogenin 1	893	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACTACACCGTCCGATGGAAAA	0.448000													27	74					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85424379	85424379	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:85424379G>A	ENST00000370608.3	-	3	311	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R54C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	82						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAACCAAAACGAACAAGCTAA	0.333000													4	29					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749165	2749165	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:2749165C>T	ENST00000382611.6	-	3	905	c.655_splice	c.e3-1	p.G219_splice	IRX2_ENST00000302057.5_Splice_Site_p.G219_splice|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCAGGCTGATCCCTGTGGGGG	0.741000													8	34					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104579461	104579461	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:104579461G>A	ENST00000304883.2	-	2	788	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	216						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GACACTGAGGGAAGGCAAGTA	0.423000													27	65					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960280	33960280	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:33960280C>T	ENST00000361328.3	+	8	2489	c.2336C>T	c.(2335-2337)tCt>tTt	p.S779F		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	779					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGTGACCATTCTAATCTCATC	0.428000													18	110					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443860	150443860	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:150443860C>T	ENST00000401000.4	+	10	2423	c.2358C>T	c.(2356-2358)tcC>tcT	p.S786S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S812S|RPRD2_ENST00000539519.1_Silent_p.S786S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	812	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GACCATCTTCCCTGATGGACT	0.478000													14	44					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9801249	9801249	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:9801249C>T	ENST00000377298.4	-	10	2214	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V	CLSTN1_ENST00000361311.4_Silent_p.V464V|CLSTN1_ENST00000377288.3_Silent_p.V474V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	474			V -> A (in dbSNP:rs17853245).		homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ACGTGCCATCCACATAGAGAG	0.542000													17	50					0	0	1	0	0
DTD1	92675	broad.mit.edu	37	20	18574378	18574378	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:18574378G>A	ENST00000377452.3	+	2	227	c.47G>A	c.(46-48)gGa>gAa	p.G16E	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	16					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						TTTCTAGTTGGAGGAGAGCAG	0.413000													3	26					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681407	44681407	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr19:44681407C>T	ENST00000590089.1	+	7	2359	c.1992C>T	c.(1990-1992)gtC>gtT	p.V664V	ZNF226_ENST00000454662.2_Silent_p.V664V|ZNF226_ENST00000337433.5_Silent_p.V664V|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				ATCAAAAAGTCCACACTGGAG	0.473000													8	111					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31643311	31643311	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr20:31643311G>A	ENST00000375494.3	+	1	82	c.82G>A	c.(82-84)Gtg>Atg	p.V28M		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	28	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GCTAGAGACGGTGGGCACGCT	0.602000													34	61					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138426007	138426007	+	Silent	SNP	G	G	A	rs61755418		TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:138426007G>A	ENST00000477593.1	-	10	1597	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	PIK3CB_ENST00000544716.1_Intron|PIK3CB_ENST00000289153.2_Silent_p.F508F			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	508					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTACCTTATCGAAGGGAGGGT	0.328000													18	50					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21328842	21328842	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr22:21328842T>C	ENST00000399167.2	+	7	779	c.539T>C	c.(538-540)gTg>gCg	p.V180A	AIFM3_ENST00000333607.6_Missense_Mutation_p.V180A|AIFM3_ENST00000335375.5_Missense_Mutation_p.V168A|AIFM3_ENST00000440238.2_Missense_Mutation_p.V180A|AIFM3_ENST00000405089.1_Missense_Mutation_p.V186A|AIFM3_ENST00000399163.2_Missense_Mutation_p.V180A|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGACCAAGGTGATGGCCAAG	0.607000													4	47					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542443	28542443	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:28542443G>A	ENST00000452236.2	-	3	2656	c.2039C>T	c.(2038-2040)tCa>tTa	p.S680L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	680					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.S680L(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTGTCTGGTGAAAATGGTGT	0.408000													63	145					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293208	33293208	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:33293208C>T	ENST00000280979.4	+	13	6359	c.6189C>T	c.(6187-6189)atC>atT	p.I2063I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2063	PKA-RII subunit binding domain.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTAAGGAAATCATTGACATGG	0.408000													26	48					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38640851	38640851	+	Silent	SNP	C	C	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:38640851C>A	ENST00000254051.6	-	6	1544	c.1386G>T	c.(1384-1386)ctG>ctT	p.L462L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	462	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCTTCCTCAGCAGCTCGATTG	0.592000													20	61					9.95505e-16	1.0229e-15	1	1	0
SAA2	6289	broad.mit.edu	37	11	18267499	18267499	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:18267499G>A	ENST00000414546.2	-	3	232	c.188C>T	c.(187-189)gCc>gTc	p.A63V	SAA2_ENST00000529528.1_Missense_Mutation_p.A63V|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Missense_Mutation_p.A63V|SAA2_ENST00000526900.1_Missense_Mutation_p.A63V|SAA2_ENST00000256733.4_Missense_Mutation_p.A63V|SAA2_ENST00000530400.1_Missense_Mutation_p.A63V	NM_001127380.2	NP_001120852.1			serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						TCCCCTTTTGGCAGCATCATA	0.572000													7	58					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89655160	89655160	+	Silent	SNP	G	G	A	rs149655987	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:89655160G>A	ENST00000268720.5	+	12	1360	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	CPNE7_ENST00000319518.8_Silent_p.P335P	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	410	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCTACCAGCCGAACGAGTACC	0.637000													7	34					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103053675	103053675	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr2:103053675G>A	ENST00000264260.2	+	6	1172	c.583G>A	c.(583-585)Gga>Aga	p.G195R	IL18RAP_ENST00000409369.1_Missense_Mutation_p.G53R	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	195	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						GGATTAGAATGGAAAACTCCT	0.358000													17	52					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452175	138452175	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:138452175G>A	ENST00000344876.4	-	1	1454	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.I356I|PCDH18_ENST00000507846.1_Silent_p.I136I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	356					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)					ACATGAGGTTGATGTTAATTT	0.363000													15	33					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	361463	361463	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:361463G>A	ENST00000256509.2	+	3	646	c.4G>A	c.(4-6)Gag>Aag	p.E2K	CHL1_ENST00000397491.2_Missense_Mutation_p.E2K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	2					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGAGCAATGGAGCCGCTTTT	0.373000													8	27					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119089	133119089	+	Silent	SNP	C	C	T	rs112142146	byFrequency	TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:133119089C>T	ENST00000302334.2	+	1	251	c.162C>T	c.(160-162)ccC>ccT	p.P54P		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	54	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCCGAGCACCCGGGGTCTATG	0.662000													16	62					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581330	99581330	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr9:99581330G>A	ENST00000481138.1	-	6	1636	c.975C>T	c.(973-975)ctC>ctT	p.L325L	ZNF782_ENST00000535338.1_Silent_p.L193L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGCACTGGGAGGGTTGAAT	0.398000													42	96					0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438571	6438571	+	Silent	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:6438571G>A	ENST00000162749.2	-	10	1574	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	TNFRSF1A_ENST00000540022.1_Silent_p.L382L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	425	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCATGTCGCGGAGCACGCGTC	0.736000													3	3					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675792	21675792	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:21675792C>T	ENST00000379499.2	-	1	656	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	39	BTB.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCCGGGAATTCGCTGCCCTCG	0.662000													11	19					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63488180	63488180	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr11:63488180C>T	ENST00000377819.5	+	3	2360	c.2206C>T	c.(2206-2208)Ctt>Ttt	p.L736F	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.L717F|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.L624F	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	736					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGTAGCATCTCTTGACTTAGA	0.413000													14	52					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064435	78064435	+	Silent	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr16:78064435C>T	ENST00000299642.4	+	3	403	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CLEC3A_ENST00000575655.1_Silent_p.S97S|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	97	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ACTGCATTTCCAAAGGAGGAA	0.478000													14	57					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248167	42248167	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr17:42248167G>A	ENST00000293414.1	+	1	94	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	4					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CATGGCAAGAGAGACCTTCCC	0.682000													39	80					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116264184	116264184	+	Splice_Site	SNP	A	A	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr6:116264184A>C	ENST00000606080.1	-	7	1751	c.1306_splice	c.e7+1	p.S435_splice	FRK_ENST00000538210.1_Splice_Site_p.S293_splice	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	435	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		ATTACTCACCACTGTAAGGCA	0.393000													14	18					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120151077	120151077	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr12:120151077C>T	ENST00000392521.2	-	35	4565	c.4510G>A	c.(4510-4512)Ggc>Agc	p.G1504S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.G1462S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1462	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGTCCCAGCCTTGCTGTCCT	0.448000													56	185					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46466593	46466593	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:46466593C>T	ENST00000328306.4	-	17	1997	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	658					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGTCGCCTTCGGTCAGGATG	0.517000													14	36					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998159	115998159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr4:115998159G>A	ENST00000264363.2	-	2	712	c.34C>T	c.(34-36)Cga>Tga	p.R12*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	12			R -> Q (in dbSNP:rs35181627).			Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCAATGTTCGAAAACTTCTC	0.343000													16	10					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129370639	129370639	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr3:129370639C>T	ENST00000393238.3	-	6	1988		c.e6-1		TMCC1_ENST00000329333.5_Splice_Site|TMCC1_ENST00000432054.2_Splice_Site|TMCC1_ENST00000426664.2_Splice_Site	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1							integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCAGGGCCTCCTGTGGGCCAG	0.582000													15	32					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364378	10364379	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:10364378_10364379insC	ENST00000377093.4	+	21	3288_3289	c.3135_3136insC	c.(3133-3138)ccaactfs	p.T1046fs	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.T1046fs	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	639					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AACAGCCACCTCAACTACGTTG	0.485													80	144	---	---	---	---					
STPG1	90529	broad.mit.edu	37	1	24706253	24706253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr1:24706253delA	ENST00000374409.1	-	5	606	c.352delT	c.(352-354)cgfs	p.S118fs	STPG1_ENST00000003583.8_Frame_Shift_Del_p.S71fs|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Frame_Shift_Del_p.S71fs|STPG1_ENST00000337248.4_Frame_Shift_Del_p.S118fs	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		ATAAAATCCGATGGGATAGTG	0.423													40	62	---	---	---	---					
LOC285692	285692	broad.mit.edu	37	5	9821412	9821414	+	RNA	DEL	CAC	CAC	-			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr5:9821412_9821414delCAC	ENST00000511616.1	-	0	521					NR_027112.2																						gactcaagcacaccaccaccACC	0.483													2	4	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409540	22409541	+	RNA	INS	-	-	C			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chr14:22409540_22409541insC	ENST00000390441.2	+	0	102																											tctctctctctTTTTTTTTTTC	0.426													5	11	---	---	---	---					
FAM9C	171484	broad.mit.edu	37	X	13061230	13061253	+	Splice_Site	DEL	GGACTTAAACACTTTACCCCGTGT	GGACTTAAACACTTTACCCCGTGT	-			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:13061230_13061253delGGACTTAAACACTTTACCCCGTGT	ENST00000542843.1	-	3	386_393	c.182_splice	c.e3+1	p.59_splice	FAM9C_ENST00000333995.3_Splice_Site_p.59_splice|FAM9C_ENST00000380625.3_Splice_Site_p.59_splice			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	59						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CAGGCAAAAGGGACTTAAACACTTTACCCCGTGTGTTCATCTGT	0.411													11	173	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53576039	53576040	+	Frame_Shift_Ins	INS	-	-	ACGC			TCGA-EB-A3Y6-01A-21D-A23B-08	TCGA-EB-A3Y6-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7873013f-3c2d-4f26-a001-c52edfc812cc	ed8e4d8c-0f58-48c7-818c-70854f7808f1	g.chrX:53576039_53576040insACGC	ENST00000342160.3	-	66	10372_10373	c.9915_9916insGCGT	c.(9913-9918)cgcaggfs	p.-3306fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.-3306fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CGCCCCCCTGAACGCTGGATCT	0.525													18	77	---	---	---	---					
