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
ICAM1	3383	broad.mit.edu	37	19	10394801	10394801	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:10394801C>T	ENST00000264832.3	+	4	1055	c.730C>T	c.(730-732)Cca>Tca	p.P244S	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	244	Ig-like C2-type 3.				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)	CGGGCTGTTCCCAGTCTCGGA	0.647000													6	55					0	0	1	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078386	107078386	+	RNA	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:107078386T>C	ENST00000390628.2	-	0	398																											CGCACAGTAATACACGGCCGT	0.542000													163	187					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71437416	71437416	+	Splice_Site	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:71437416T>A	ENST00000306666.5	-	4	1380	c.1169_splice	c.e4-1	p.R390_splice	PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000356595.4_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	390					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TCTTTCATTATCTGTTAGAAT	0.303000													25	66					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108521362	108521362	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:108521362G>T	ENST00000263054.6	-	5	950	c.943C>A	c.(943-945)Cca>Aca	p.P315T	SORCS1_ENST00000344440.6_Missense_Mutation_p.P315T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	315						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCTGTTTGGTACAACCCCT	0.393000													12	47					0.000422831	0.000459534	1	1	0
PTPRU	10076	broad.mit.edu	37	1	29587162	29587162	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:29587162T>C	ENST00000356870.3	+	7	1001	c.891T>C	c.(889-891)gcT>gcC	p.A297A	PTPRU_ENST00000345512.3_Silent_p.A297A|PTPRU_ENST00000323874.8_Silent_p.A297A|PTPRU_ENST00000460170.2_Silent_p.A297A|PTPRU_ENST00000428026.2_Silent_p.A297A|PTPRU_ENST00000373779.3_Silent_p.A297A	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	297	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCTGCGTGCTGGCCCCACCT	0.662000													16	40					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399865	47399865	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:47399865A>G	ENST00000310638.4	-	8	1102	c.1071T>C	c.(1069-1071)gaT>gaC	p.D357D	CYP4A11_ENST00000371904.4_Silent_p.D358D|CYP4A11_ENST00000371905.1_Silent_p.D357D|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_3'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	357					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)	TGGAGGCTCCATCACCCAGGA	0.612000													10	43					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623460	100623460	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:100623460C>A	ENST00000317233.4	-	6	742	c.507G>T	c.(505-507)agG>agT	p.R169S	AFF3_ENST00000409236.1_Missense_Mutation_p.R169S|AFF3_ENST00000409579.1_Missense_Mutation_p.R194S|AFF3_ENST00000356421.2_Missense_Mutation_p.R194S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	169					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CAAGCAAGGTCCTGAGAGAGC	0.522000													16	48					2.32078e-09	2.97921e-09	1	1	0
CFH	3075	broad.mit.edu	37	1	196648875	196648875	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:196648875G>T	ENST00000367429.4	+	6	982	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	CFH_ENST00000359637.2_Missense_Mutation_p.D184Y|CFH_ENST00000439155.2_Missense_Mutation_p.D248Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	248	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAAAGAGGAGATGCTGTATG	0.318000													12	41					0.00136819	0.00144905	1	1	0
LDB3	11155	broad.mit.edu	37	10	88446937	88446937	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:88446937G>C	ENST00000429277.2	+	6	946	c.801G>C	c.(799-801)gcG>gcC	p.A267A	LDB3_ENST00000361373.4_Intron|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000372066.3_Silent_p.A152A|LDB3_ENST00000372056.4_Silent_p.A267A|LDB3_ENST00000263066.6_Silent_p.A152A|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Silent_p.A152A|LDB3_ENST00000542786.1_3'UTR	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	252						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TCATCCATGCGCAGTACAACA	0.612000													44	175					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71593478	71593478	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:71593478G>T	ENST00000408926.3	+	3	719	c.185G>T	c.(184-186)tGg>tTg	p.W62L	XKR9_ENST00000520030.1_Missense_Mutation_p.W62L|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	62						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)			AGTTATTCTTGGTTCAAGGCT	0.378000													35	230					3.90053e-15	5.81579e-15	1	1	0
NME8	51314	broad.mit.edu	37	7	37903065	37903065	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:37903065G>T	ENST00000199447.4	+	8	826		c.e8+1		EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Splice_Site	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8						cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAAAGTGTTCGTAAGTAAATT	0.363000													13	40					0.000151284	0.000166195	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113569164	113569164	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113569164A>G	ENST00000297405.5	-	25	4306	c.4062T>C	c.(4060-4062)tgT>tgC	p.C1354C	CSMD3_ENST00000352409.3_Silent_p.C1354C|CSMD3_ENST00000343508.3_Silent_p.C1314C|CSMD3_ENST00000455883.2_Silent_p.C1250C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1354	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGATCTTCACAGTGTGAGA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	34					0	0	1	0	0
TYROBP	7305	broad.mit.edu	37	19	36398448	36398448	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36398448C>A	ENST00000585901.2	-	3	147	c.129G>T	c.(127-129)ctG>ctT	p.L43L	TYROBP_ENST00000589517.1_Silent_p.L43L|TYROBP_ENST00000544690.2_Silent_p.L32L|TYROBP_ENST00000424586.3_Silent_p.L32L|TYROBP_ENST00000262629.4_Silent_p.L43L			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	43					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGATCCCTGCCAGCACGCCCG	0.677000													17	58					4.7546e-09	6.06096e-09	1	1	0
APCDD1	147495	broad.mit.edu	37	18	10471535	10471535	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:10471535T>G	ENST00000355285.4	+	3	605	c.251T>G	c.(250-252)gTa>gGa	p.V84G	APCDD1_ENST00000578882.1_Missense_Mutation_p.V84G	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	84					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		AGCTGTGAAGTAAGGTCAGGC	0.403000													18	49					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122075500	122075500	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:122075500C>A	ENST00000265922.3	-	2	595	c.134G>T	c.(133-135)aGg>aTg	p.R45M	DBC1_ENST00000373964.2_Missense_Mutation_p.R45M	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		45					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GAAAGGCCCCCTGTCTGAAAT	0.488000													38	30					2.35958e-20	3.8171e-20	1	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171335	68171335	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:68171335G>T	ENST00000243457.3	+	2	538	c.155G>T	c.(154-156)gGc>gTc	p.G52V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G52V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	52					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAGAAAGATGGCCACTGTAAT	0.527000													12	64					0.00010058	0.000110759	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94540305	94540305	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:94540305G>T	ENST00000289495.5	+	1	1096	c.880G>T	c.(880-882)Ggt>Tgt	p.G294C	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G294C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G294C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	294						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCGATACCTGGTGAAGAGAT	0.473000										HNSCC(28;0.073)			6	31					8.12818e-05	8.96159e-05	1	1	0
DEK	7913	broad.mit.edu	37	6	18264160	18264160	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:18264160T>A	ENST00000397239.3	-	2	506	c.59A>T	c.(58-60)gAg>gTg	p.E20V	DEK_ENST00000244776.7_Missense_Mutation_p.E20V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	20					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GGGTTCTTTCTCGGACGCGGG	0.662000			T	NUP214	AML								17	37					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348694	150348694	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:150348694C>A	ENST00000218316.3	+	2	708	c.639C>A	c.(637-639)acC>acA	p.T213T		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	213					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCTGGACCAAAGTGCTGG	0.512000													29	111					1.13719e-10	1.50637e-10	1	1	0
FSTL4	23105	broad.mit.edu	37	5	132535254	132535254	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:132535254C>T	ENST00000265342.7	-	16	2311	c.2062G>A	c.(2062-2064)Gta>Ata	p.V688I	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	688						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCCTGTTACATCACCATTG	0.617000													25	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179655564	179655564	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179655564C>T	ENST00000589042.1	-	11	1895	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Silent_p.Q557Q|TTN_ENST00000342992.6_Silent_p.Q557Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.Q557Q|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	557							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)			TCTCAGTTTCCTGTCTTATCT	0.403000													9	51					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50404858	50404858	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:50404858G>A	ENST00000435965.1	-	28	2562	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y	CACNA2D2_ENST00000424201.2_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.H797Y|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.H790Y|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.H721Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.H797Y|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	797					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ACATAACCGTGGTTATCCAGG	0.612000													11	30					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104948796	104948796	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:104948796G>T	ENST00000507740.1	+	10	2005	c.1769G>T	c.(1768-1770)aGa>aTa	p.R590I	RIMS2_ENST00000436393.2_Missense_Mutation_p.R576I|RIMS2_ENST00000406091.3_Missense_Mutation_p.R798I|RIMS2_ENST00000262231.10_Missense_Mutation_p.R637I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	860					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACAAGAGAAGAACTAAAACA	0.299000										HNSCC(12;0.0054)			9	54					0.000274275	0.000298793	1	1	0
C3	718	broad.mit.edu	37	19	6710813	6710813	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:6710813C>A	ENST00000245907.6	-	13	1615	c.1523G>T	c.(1522-1524)cGa>cTa	p.R508L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	508					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCGGGCTCTCGCACCTGGCG	0.657000													12	30					5.50884e-06	6.29385e-06	1	1	0
AFF2	2334	broad.mit.edu	37	X	148048358	148048358	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:148048358C>G	ENST00000370460.2	+	14	3431	c.2952C>G	c.(2950-2952)atC>atG	p.I984M	AFF2_ENST00000370457.5_Missense_Mutation_p.I949M|AFF2_ENST00000342251.3_Missense_Mutation_p.I951M|AFF2_ENST00000286437.5_Missense_Mutation_p.I625M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	984					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCACCATCACTGTCACCA	0.493000													27	118					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220345348	220345348	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:220345348C>A	ENST00000358951.2	-	23	2576	c.2460G>T	c.(2458-2460)tgG>tgT	p.W820C		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	820					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGCTGCCACCATGGGGACA	0.473000													13	34					7.93312e-07	9.41672e-07	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78794514	78794514	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:78794514C>T	ENST00000545128.1	+	15	2441	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	PCSK5_ENST00000376752.4_Missense_Mutation_p.P635S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	635					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						TTGGAAAGGTCCCTGCGACCC	0.408000													8	49					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79365096	79365096	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:79365096G>T	ENST00000444841.1	-	0	162																											ATCTCACCTTGGCTCAGAGAC	0.493000													6	13					0.00307968	0.00322431	1	1	0
HERC2P2	400322	broad.mit.edu	37	15	23299992	23299992	+	RNA	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23299992A>G	ENST00000560464.1	-	0	4295																											GGGAAATCCCATCTCCATGAG	0.592000													6	23					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975582	51975582	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:51975582G>T	ENST00000220478.3	+	4	751	c.348G>T	c.(346-348)ctG>ctT	p.L116L	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	116					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATCGAAAACTGATCGATGATT	0.323000													32	100					3.62531e-18	5.69335e-18	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51890828	51890828	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:51890828C>G	ENST00000371117.3	-	32	4055	c.3780G>C	c.(3778-3780)gcG>gcC	p.A1260A	PKHD1_ENST00000340994.4_Silent_p.A1260A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1260	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGAGCGCCCGCATCGGGTA	0.592000													10	47					0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963681	112963681	+	Silent	SNP	C	C	G	rs111567458	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:112963681C>G	ENST00000400613.4	-	2	876	c.267G>C	c.(265-267)ctG>ctC	p.L89L	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	89										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTTCCAGGGACAGTGAGCTTC	0.567000													22	34					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39841077	39841077	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:39841077A>C	ENST00000538976.1	+	10	1290	c.1108A>C	c.(1108-1110)Acg>Ccg	p.T370P	DAAM2_ENST00000398904.2_Missense_Mutation_p.T370P|DAAM2_ENST00000274867.4_Missense_Mutation_p.T370P	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	370	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTGAAGTACACGGAGGCCTA	0.567000													7	17					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346507	29346507	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:29346507G>A	ENST00000558402.1	+	5	1019	c.420G>A	c.(418-420)gaG>gaA	p.E140E	APBA2_ENST00000561069.1_Silent_p.E140E|APBA2_ENST00000558259.1_Silent_p.E140E|APBA2_ENST00000411764.1_Silent_p.E140E|APBA2_ENST00000558330.1_Silent_p.E140E			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	140					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGGTGGAGGAGTGGACGGACT	0.667000													19	65					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22063220	22063220	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22063220C>G	ENST00000261200.4	-	8	1190	c.1191G>C	c.(1189-1191)agG>agC	p.R397S	ABCC9_ENST00000345162.2_Missense_Mutation_p.R397S|ABCC9_ENST00000261201.4_Missense_Mutation_p.R397S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	397	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACGTAGAGAGCCTAAGGATTT	0.343000													15	48					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115231344	115231344	+	Missense_Mutation	SNP	C	C	A	rs140601541		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:115231344C>A	ENST00000369538.3	-	2	187	c.140G>T	c.(139-141)cGc>cTc	p.R47L	AMPD1_ENST00000353928.6_Missense_Mutation_p.R18L|AMPD1_ENST00000520113.2_Missense_Mutation_p.R51L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	18					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.R18H(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	AGCAAAGTTGCGCATTGCATC	0.418000													21	85					4.35082e-09	5.56174e-09	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762867	130762867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:130762867G>T	ENST00000392429.1	+	2	3678	c.1300G>T	c.(1300-1302)Gag>Tag	p.E434*	TMEM200A_ENST00000296978.3_Nonsense_Mutation_p.E434*|TMEM200A_ENST00000545622.1_Nonsense_Mutation_p.E434*	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	434						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TATGAAACTAGAGAACAAAGA	0.453000													10	44					0.000978159	0.00104322	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104375799	104375799	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:104375799A>T	ENST00000361820.3	-	6	3225	c.2625T>A	c.(2623-2625)atT>atA	p.I875I	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	875					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTGGGAGGCCAATGCCGTATC	0.438000													7	32					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481135	140481135	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140481135T>A	ENST00000231130.2	+	1	902	c.902T>A	c.(901-903)aTg>aAg	p.M301K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGGTGATATGCAACTGGTC	0.378000													4	37					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84652636	84652636	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:84652636C>A	ENST00000393868.2	-	8	1127	c.917G>T	c.(916-918)gGa>gTa	p.G306V	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	306					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ACCTTTTCCTCCAGCAATAAT	0.502000													37	132					1.04594e-18	1.65396e-18	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766702	57766702	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57766702G>A	ENST00000371030.2	+	1	628	c.628G>A	c.(628-630)Ggg>Agg	p.G210R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	210						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGAGGGCGCCGGGGGCGGCCT	0.677000													32	79					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584503	138584503	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:138584503C>G	ENST00000251691.4	+	12	2049	c.1883C>G	c.(1882-1884)tCa>tGa	p.S628*		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	628	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCCGACGTGTCAGACATTGGG	0.532000													54	155					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372739	126372739	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:126372739C>T	ENST00000394329.3	+	9	10581	c.10568C>T	c.(10567-10569)cCa>cTa	p.P3523L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1821L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3523	Cadherin 34.				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						AACAAACGGCCAGGCACTTTG	0.488000													32	92					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269432	30269432	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:30269432G>A	ENST00000378981.3	+	4	1143	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAGEB1_ENST00000397550.1_Silent_p.P274P|MAGEB1_ENST00000397548.2_Silent_p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TATGGGGTCCGAGAGCCTATG	0.502000													23	54					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080456	126080456	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:126080456C>T	ENST00000368364.3	+	5	719	c.522C>T	c.(520-522)gcC>gcT	p.A174A	HEY2_ENST00000368365.1_Silent_p.A128A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	174					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCTCCATGGCCCACCACCATC	0.677000													49	158					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37609640	37609640	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:37609640G>T	ENST00000399151.3	+	16	2788	c.2703G>T	c.(2701-2703)cgG>cgT	p.R901R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	901					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						TGTTCTACCGGCTGCACTGCC	0.587000													7	55					5.18039e-06	5.95582e-06	1	1	0
ST8SIA1	6489	broad.mit.edu	37	12	22440119	22440119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22440119G>T	ENST00000539510.1	-	2	309	c.26C>A	c.(25-27)tCa>tAa	p.S9*	ST8SIA1_ENST00000396037.4_Missense_Mutation_p.F115L			Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	0					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TGTCAATGGTGAATGAGTATA	0.423000													10	43					2.17888e-05	2.45258e-05	1	1	0
FAM171A1	221061	broad.mit.edu	37	10	15256456	15256456	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:15256456C>G	ENST00000378116.4	-	8	1137	c.1131G>C	c.(1129-1131)ctG>ctC	p.L377L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	377						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGTGACGGACAGCGGGCCAG	0.602000													23	43					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029422	32029422	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:32029422C>A	ENST00000375244.3	-	21	7445	c.7244G>T	c.(7243-7245)gGg>gTg	p.G2415V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2415V			P22105	TENX_HUMAN	tenascin XB	2475	Fibronectin type-III 16.				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						TGTTAGCTCCCCCAGGAGCGG	0.642000													19	79					1.36565e-18	2.15207e-18	1	1	0
DCX	1641	broad.mit.edu	37	X	110653581	110653581	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:110653581T>C	ENST00000338081.3	-	2	460	c.289A>G	c.(289-291)Agg>Ggg	p.R97G	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.R16G|DCX_ENST00000371993.2_Missense_Mutation_p.R16G|DCX_ENST00000356915.2_Missense_Mutation_p.R16G|DCX_ENST00000356220.3_Missense_Mutation_p.R16G	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	97					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CGCATGTTCCTGGATGTCTTA	0.517000													29	75					0	0	1	0	0
IGKV4-1	28908	broad.mit.edu	37	2	89185615	89185615	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:89185615C>A	ENST00000390243.2	+	0	484																											CCATCAGCAGCCTGCAGGCTG	0.532000													11	35					1.08611e-07	1.3307e-07	1	1	0
ICAM5	7087	broad.mit.edu	37	19	10403431	10403431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:10403431C>T	ENST00000221980.4	+	5	1168	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	369	Ig-like C2-type 4.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCCCAGCTTCAGCTAAATGC	0.642000													4	42					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61830158	61830158	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:61830158C>A	ENST00000225726.5	-	10	1418	c.1034_splice	c.e10-1	p.E346_splice	CCDC47_ENST00000582252.1_Splice_Site_p.E346_splice|CCDC47_ENST00000403162.3_Splice_Site_p.E346_splice	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	346						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GGCTGACCTTCCCTGTCATAA	0.388000											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	17	50					2.35188e-11	3.19409e-11	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42169093	42169093	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:42169093C>A	ENST00000320955.6	-	19	3992	c.3765G>T	c.(3763-3765)cgG>cgT	p.R1255R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1255					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)		TGCTCAGGAGCCGCCCAAACT	0.677000													6	30					0.217242	0.218678	1	1	0
DENND6B	414918	broad.mit.edu	37	22	50750771	50750771	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:50750771C>A	ENST00000413817.2	-	19	1707		c.e19+1			NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		AGGCATCTTACCAGCTTCTCA	0.632000													5	14					0.0293803	0.0298043	1	1	0
ELMO1	9844	broad.mit.edu	37	7	36917673	36917673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:36917673G>T	ENST00000310758.4	-	19	2411	c.1764C>A	c.(1762-1764)taC>taA	p.Y588*	ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Y588*|ELMO1_ENST00000341056.3_Nonsense_Mutation_p.Y290*|ELMO1_ENST00000396040.2_Nonsense_Mutation_p.Y108*|ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Y588*|ELMO1_ENST00000396045.3_Nonsense_Mutation_p.Y108*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	588	PH.				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						CTAAGTCTCCGTAATGCAGGA	0.458000													4	20					3.59834e-05	4.03049e-05	1	1	0
MT1E	4493	broad.mit.edu	37	16	56660853	56660853	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:56660853G>T	ENST00000306061.6	+	3	533	c.156G>T	c.(154-156)ggG>ggT	p.G52G	MT1E_ENST00000568293.1_Silent_p.G30G|MT1E_ENST00000330439.6_3'UTR	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E	52	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										TCTGCAAAGGGGCATCGGAGA	0.537000													33	145					5.8336e-16	8.84231e-16	1	1	0
DMBX1	127343	broad.mit.edu	37	1	46977890	46977890	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:46977890G>C	ENST00000371956.4	+	4	888	c.873G>C	c.(871-873)ccG>ccC	p.P291P	DMBX1_ENST00000360032.3_Silent_p.P286P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	291					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P291P(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TAGGGGGTCCGGCCCCTGCTG	0.657000													14	36					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72971646	72971646	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:72971646T>C	ENST00000262209.4	-	8	1179	c.972A>G	c.(970-972)ctA>ctG	p.L324L		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	324						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATAGTCTGCTAGCTCATGGT	0.229000													14	16					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73164122	73164122	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:73164122G>T	ENST00000286657.4	-	18	2498	c.2462C>A	c.(2461-2463)aCa>aAa	p.T821K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	821	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACTTATATGTCAGGCTAGA	0.358000													11	75					1.61879e-10	2.12583e-10	1	1	0
CECR2	27443	broad.mit.edu	37	22	18022521	18022521	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:18022521C>A	ENST00000262608.8	+	15	2626	c.2626C>A	c.(2626-2628)Ccc>Acc	p.P876T	CECR2_ENST00000400585.2_Missense_Mutation_p.P734T|CECR2_ENST00000400573.4_Missense_Mutation_p.P875T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	917					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCGCGTCTGCCCCCCAGGTGT	0.642000													42	97					2.46787e-29	4.09371e-29	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62167138	62167138	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:62167138C>T	ENST00000261517.5	-	77	10424	c.10351G>A	c.(10351-10353)Ggc>Agc	p.G3451S	VPS13C_ENST00000395896.4_Missense_Mutation_p.G3451S|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3408S|VPS13C_ENST00000395898.3_Missense_Mutation_p.G3408S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3451					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTCAGGGCCTTGAACAGCA	0.323000													29	110					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508765	149508765	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:149508765C>A	ENST00000378016.2	+	0	9504							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGTGTCTCCGGGCTCATCG	0.627000													4	133					0.00909568	0.00940436	1	1	0
SDR9C7	121214	broad.mit.edu	37	12	57323207	57323207	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:57323207G>T	ENST00000293502.1	-	3	834	c.691C>A	c.(691-693)Cgg>Agg	p.R231R		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	231						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TAGCTGTCCCGGGTCTCCTGA	0.582000													29	78					1.32181e-22	2.15738e-22	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56257933	56257933	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56257933G>C	ENST00000327216.2	-	1	938	c.914C>G	c.(913-915)tCa>tGa	p.S305*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TATCTTCATTGACAGCTCTTT	0.303000													5	18					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120204415	120204415	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:120204415G>C	ENST00000019103.5	-	11	1327	c.1060C>G	c.(1060-1062)Cac>Gac	p.H354D		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	354					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ACGATGTAGTGGATGCCAAAG	0.582000													20	106					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40042498	40042498	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:40042498G>A	ENST00000352035.2	-	18	2069	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ACLY_ENST00000393896.2_Silent_p.L637L|ACLY_ENST00000353196.1_Silent_p.L637L|ACLY_ENST00000590151.1_Silent_p.L647L|ACLY_ENST00000537919.1_Silent_p.L376L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	647					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTGGAGGCCAGGATGTTGTCC	0.562000													27	77					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935392	30935392	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:30935392C>A	ENST00000355537.3	+	2	1070	c.923C>A	c.(922-924)gCg>gAg	p.A308E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCGACTTCGCGGCTTCGCAG	0.642000													60	143					1.72039e-30	2.86941e-30	1	1	0
CIR1	9541	broad.mit.edu	37	2	175246483	175246483	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:175246483C>A	ENST00000342016.3	-	3	282	c.190G>T	c.(190-192)Gta>Tta	p.V64L	CIR1_ENST00000362053.5_Missense_Mutation_p.V64L	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	64	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CCATTCTTTACACGTTCATCT	0.323000													57	198					3.53049e-34	5.91001e-34	1	1	0
OR2T33	391195	broad.mit.edu	37	1	248436631	248436631	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248436631C>A	ENST00000318021.2	-	1	507	c.486G>T	c.(484-486)ctG>ctT	p.L162L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-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)			ATGGGAAGCTCAGGGTAACAA	0.562000													7	63					3.07112e-06	3.55317e-06	1	1	0
GPANK1	7918	broad.mit.edu	37	6	31630102	31630102	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:31630102C>T	ENST00000375906.1	-	4	1696	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	GPANK1_ENST00000375896.4_Missense_Mutation_p.E338K|GPANK1_ENST00000375893.2_Missense_Mutation_p.E338K|GPANK1_ENST00000375900.4_Missense_Mutation_p.E338K|GPANK1_ENST00000375895.2_Missense_Mutation_p.E338K	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	338						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TCTTTCTCCTCCCTCCTTCTC	0.567000													22	77					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152823790	152823790	+	Missense_Mutation	SNP	C	C	A	rs139190745		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:152823790C>A	ENST00000367255.5	-	10	1467	c.866G>T	c.(865-867)aGc>aTc	p.S289I	SYNE1_ENST00000341594.5_Missense_Mutation_p.S289I|SYNE1_ENST00000466159.2_Missense_Mutation_p.S289I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S296I|SYNE1_ENST00000367253.4_Missense_Mutation_p.S289I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S296I|SYNE1_ENST00000413186.2_Missense_Mutation_p.S289I|SYNE1_ENST00000367248.3_Missense_Mutation_p.S296I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S289I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	289	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCATCAGTGCTTGCATTGTG	0.378000										HNSCC(10;0.0054)			7	31					2.0095e-06	2.3487e-06	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32832521	32832521	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:32832521G>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTCTTTAGGTGTTGGTGT	0.403000													18	104					5.35267e-07	6.39521e-07	1	1	0
TAL1	6886	broad.mit.edu	37	1	47685465	47685465	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:47685465G>T	ENST00000371883.3	-	4	1505	c.929C>A	c.(928-930)cCc>cAc	p.P310H	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.P308H|TAL1_ENST00000371884.2_Missense_Mutation_p.P308H			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	308					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TTTGGGCGCGGGCTCCTCCGT	0.697000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								20	67					1.2644e-06	1.49311e-06	1	1	0
NSDHL	50814	broad.mit.edu	37	X	152036165	152036165	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:152036165G>A	ENST00000370274.3	+	7	931	c.737G>A	c.(736-738)gGa>gAa	p.G246E	NSDHL_ENST00000440023.1_Missense_Mutation_p.G246E	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	246					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GTGGTCCATGGACACATCCTG	0.587000													18	80					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923625	24923625	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:24923625G>T	ENST00000329468.2	+	1	3085	c.2611G>T	c.(2611-2613)Gtc>Ttc	p.V871F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTCAGCCCAAGTCTCCACCAG	0.502000													21	77					7.41877e-09	9.39163e-09	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46388145	46388145	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:46388145T>C	ENST00000507460.1	-	3	465	c.133A>G	c.(133-135)Att>Gtt	p.I45V	GABRA2_ENST00000540012.1_Silent_p.E12E|GABRA2_ENST00000507069.1_Missense_Mutation_p.I45V|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000515082.1_Missense_Mutation_p.I45V|GABRA2_ENST00000381620.4_Missense_Mutation_p.I45V|GABRA2_ENST00000514090.1_Missense_Mutation_p.I45V|GABRA2_ENST00000510861.1_Missense_Mutation_p.I45V|GABRA2_ENST00000356504.1_Missense_Mutation_p.I45V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	45					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGTCAAGAATTCTCGTAAAG	0.348000													10	43					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576271	33576271	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:33576271T>A	ENST00000504830.1	-	19	4195	c.3860A>T	c.(3859-3861)gAg>gTg	p.E1287V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1202V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1287	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCATCCTCCTCAGTCAGGAC	0.493000										HNSCC(64;0.19)			58	261					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137271855	137271855	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:137271855G>T	ENST00000453654.1	-	13	1052	c.513C>A	c.(511-513)ctC>ctA	p.L171L	DGKI_ENST00000288490.5_Silent_p.L471L|DGKI_ENST00000446122.1_Silent_p.L471L|DGKI_ENST00000424189.2_Silent_p.L471L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	471					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCCCCAGTTGAGAGTTCGAG	0.557000													14	70					3.52763e-06	4.0659e-06	1	1	0
AHSA2	130872	broad.mit.edu	37	2	61411929	61411929	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:61411929C>A	ENST00000394457.2	+	3	1812	c.69C>A	c.(67-69)acC>acA	p.T23T	AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Silent_p.T23T|AHSA2_ENST00000357022.2_Silent_p.T23T	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	185					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			GTGGGAATACCCTGCAGGTAT	0.453000													9	42					4.84862e-15	7.20591e-15	1	1	0
LRP1B	53353	broad.mit.edu	37	2	140995762	140995762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:140995762C>A	ENST00000389484.3	-	89	14490	c.13519G>T	c.(13519-13521)Gga>Tga	p.G4507*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4507					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAAGACCTCCATCGTTGTGA	0.363000										TSP Lung(27;0.18)			19	48					2.37509e-13	3.40256e-13	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48172225	48172225	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:48172225C>A	ENST00000311303.3	-	6	1238	c.893G>T	c.(892-894)cGa>cTa	p.R298L	ABCC12_ENST00000416054.1_Missense_Mutation_p.R298L|ABCC12_ENST00000448542.1_Missense_Mutation_p.R298L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	298	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTCTGAACTCGCTTGTCTGT	0.418000													35	55					3.11337e-16	4.74271e-16	1	1	0
CES2	8824	broad.mit.edu	37	16	66977827	66977827	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:66977827G>T	ENST00000317091.4	+	12	2755	c.1771G>T	c.(1771-1773)Ggc>Tgc	p.G591C	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.G575C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	527					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GCCTGCGGTGGGCCGGGCTCT	0.602000													12	35					0.435327	0.437721	1	1	0
CR2	1380	broad.mit.edu	37	1	207653332	207653332	+	Missense_Mutation	SNP	C	C	T	rs142392703	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:207653332C>T	ENST00000367057.3	+	18	3311	c.3122C>T	c.(3121-3123)gCa>gTa	p.A1041V	CR2_ENST00000367059.3_Missense_Mutation_p.A920V|CR2_ENST00000458541.2_Missense_Mutation_p.A955V|CR2_ENST00000367058.3_Missense_Mutation_p.A982V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	982					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTATTGCTGCAGGTTTGATA	0.413000													3	24					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71124778	71124778	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:71124778C>A	ENST00000299213.8	-	3	1159	c.1089G>T	c.(1087-1089)ccG>ccT	p.P363P		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	363					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGGCCAGACGGGCTGAGCT	0.612000													12	52					4.3838e-07	5.24449e-07	1	1	0
FEZF1	389549	broad.mit.edu	37	7	121942248	121942248	+	Silent	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:121942248T>G	ENST00000442488.2	-	4	1298	c.1231A>C	c.(1231-1233)Agg>Cgg	p.R411R	FEZF1_ENST00000331178.4_Silent_p.R407R|FEZF1_ENST00000427185.2_Silent_p.R361R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	411					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TCAAAGTTCCTGCAGAAACCC	0.607000													29	94					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177056261	177056261	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:177056261A>T	ENST00000393643.2	+	8	1353	c.1101A>T	c.(1099-1101)ggA>ggT	p.G367G	WDR17_ENST00000507824.2_Silent_p.G374G|WDR17_ENST00000280190.4_Silent_p.G391G|WDR17_ENST00000508596.1_Silent_p.G367G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	391										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTCCTAGGGACATGTGGAAA	0.328000													13	51					0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	rs147810006		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	268					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCCCATGACAACATCATCTGT	0.607000													18	50					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112178924	112178924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:112178924G>T	ENST00000457016.1	+	16	8013	c.7633G>T	c.(7633-7635)Gga>Tga	p.G2545*	APC_ENST00000257430.4_Nonsense_Mutation_p.G2545*|APC_ENST00000508376.2_Nonsense_Mutation_p.G2545*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2545	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAATAGGTCAGGAACCTGGAA	0.438000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			19	70					6.33239e-15	9.38055e-15	1	1	0
HHIP	64399	broad.mit.edu	37	4	145581005	145581005	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:145581005T>A	ENST00000434550.2	+	4	1350	c.846T>A	c.(844-846)aaT>aaA	p.N282K	HHIP_ENST00000296575.3_Intron|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA			Q96QV1	HHIP_HUMAN	hedgehog interacting protein	0						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCtttttaaattttatttatt	0.318000													16	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615215	179615215	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179615215G>A	ENST00000360870.5	-	46	12134	c.11912C>T	c.(11911-11913)cCt>cTt	p.P3971L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9787							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)			TATAGGTTGAGGATATCCTTG	0.358000													9	23					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153134345	153134345	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153134345C>A	ENST00000370060.1	-	12	1519	c.1330G>T	c.(1330-1332)Gcc>Tcc	p.A444S	L1CAM_ENST00000543994.1_Missense_Mutation_p.A446S|L1CAM_ENST00000538883.1_Missense_Mutation_p.A446S|L1CAM_ENST00000361699.4_Missense_Mutation_p.A444S|L1CAM_ENST00000370055.1_Missense_Mutation_p.A439S|L1CAM_ENST00000361981.3_Missense_Mutation_p.A439S|L1CAM_ENST00000370057.3_Missense_Mutation_p.A444S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	444	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGGTAGGCAGTGCTGCCC	0.602000													39	152					5.04308e-16	7.66951e-16	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6519792	6519792	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:6519792C>A	ENST00000254579.6	+	3	911	c.347C>A	c.(346-348)cCc>cAc	p.P116H	DNHD1_ENST00000527990.2_Missense_Mutation_p.P116H|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000354685.3_Missense_Mutation_p.P116H	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	116					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCTGGGCACCCTGGGTCCAA	0.547000													34	127					5.8336e-16	8.84231e-16	1	1	0
CCDC102B	79839	broad.mit.edu	37	18	66542022	66542022	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:66542022G>T	ENST00000360242.5	+	5	1170	c.1053_splice	c.e5+1	p.E351_splice	CCDC102B_ENST00000319445.6_Splice_Site_p.E351_splice|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Splice_Site_p.E351_splice|CCDC102B_ENST00000584156.1_Splice_Site_p.E351_splice	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	351										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TAAGAGCAGAGGTAAGACACT	0.358000													14	51					0.006122	0.00635854	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86340371	86340371	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:86340371A>T	ENST00000370571.2	-	35	3465	c.3099T>A	c.(3097-3099)acT>acA	p.T1033T	COL24A1_ENST00000436319.1_Silent_p.T1033T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1033	Collagen-like 9.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACTGCCAGCAGTTCCAACAT	0.463000													10	16					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8608728	8608728	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:8608728T>A	ENST00000382073.3	+	1	207	c.21T>A	c.(19-21)ccT>ccA	p.P7P		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	7					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AGCAGCAACCTCAAAGTACAG	0.453000													9	64					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25701183	25701183	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:25701183G>A	ENST00000376351.3	+	4	1475	c.1116G>A	c.(1114-1116)agG>agA	p.R372R		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	372						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTTCAGGAAGGGGTCCGGATC	0.458000													17	94					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005504	118005504	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:118005504C>A	ENST00000310754.4	-	1	1232	c.1046G>T	c.(1045-1047)gGa>gTa	p.G349V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	349					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CACTCCCACTCCGTTTTCTGT	0.393000													23	128					6.44725e-10	8.38234e-10	1	1	0
HECTD2	143279	broad.mit.edu	37	10	93221022	93221022	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:93221022A>T	ENST00000446394.1	+	4	519	c.419A>T	c.(418-420)gAa>gTa	p.E140V	HECTD2_ENST00000298068.5_Missense_Mutation_p.E140V|HECTD2_ENST00000371681.4_Missense_Mutation_p.E140V			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	140					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAAGATGTAGAAAAAGTTAAG	0.279000													24	92					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64784226	64784226	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:64784226G>T	ENST00000543942.2	-	1	746	c.120C>A	c.(118-120)atC>atA	p.I40I	C12orf56_ENST00000333722.5_Silent_p.I40I|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	40										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGGACACCACGATGCATGGCT	0.647000													13	78					1.36491e-13	1.96771e-13	1	1	0
TBCCD1	55171	broad.mit.edu	37	3	186274336	186274336	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:186274336C>A	ENST00000424280.1	-	4	1200	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	TBCCD1_ENST00000446782.1_Missense_Mutation_p.D145Y|TBCCD1_ENST00000338733.5_Missense_Mutation_p.D241Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	241					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AAGCCACTATCTGCATGCAGT	0.448000													17	53					1.37285e-15	2.06041e-15	1	1	0
TREML2	79865	broad.mit.edu	37	6	41162351	41162351	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:41162351G>T	ENST00000483722.1	-	3	782	c.597C>A	c.(595-597)agC>agA	p.S199R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	199					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.S258S(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGTCCCTGGCTGGTGGTGC	0.602000													10	27					0.00621372	0.00644647	1	1	0
OR2B6	26212	broad.mit.edu	37	6	27925229	27925229	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:27925229C>A	ENST00000244623.1	+	1	211	c.211C>A	c.(211-213)Ctt>Att	p.L71I		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCCTGGATCTTTGTTACAC	0.408000													19	79					6.33239e-15	9.38055e-15	1	1	0
IVD	3712	broad.mit.edu	37	15	40710403	40710403	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:40710403G>T	ENST00000249760.2	+	12	1556	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	IVD_ENST00000479013.2_Missense_Mutation_p.G378W|IVD_ENST00000487418.2_Missense_Mutation_p.G408W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	405	Substrate binding.				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GATAGGGGCTGGGACCAGCGA	0.567000													20	72					1.55795e-14	2.29671e-14	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6731953	6731953	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:6731953T>A	ENST00000405858.1	-	5	1161	c.620A>T	c.(619-621)tAt>tTt	p.Y207F	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.Y169F|ZNF12_ENST00000404360.1_Missense_Mutation_p.Y133F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	207					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AATTTTCTGATAAAGACTTTC	0.343000													6	21					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333601	11333601	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:11333601C>G	ENST00000376810.5	+	1	339	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	UBIAD1_ENST00000376804.2_Missense_Mutation_p.Q5E	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	5					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GGCGGCCTCTCAGGTCCTGGG	0.612000													15	48					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558728	118558728	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:118558728C>A	ENST00000336338.5	-	29	4212	c.4147G>T	c.(4147-4149)Gta>Tta	p.V1383L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1383						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAGGAGTTACAGTTTGAACT	0.453000													16	34					2.48551e-13	3.54407e-13	1	1	0
MAD2L1	4085	broad.mit.edu	37	4	120987824	120987824	+	Missense_Mutation	SNP	C	C	A	rs140487496	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:120987824C>A	ENST00000296509.5	-	1	405	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	22	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TACAGAAGAACTCGGCCACGA	0.602000													15	35					1.15088e-07	1.40254e-07	1	1	0
ATP1B4	23439	broad.mit.edu	37	X	119504590	119504590	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:119504590T>C	ENST00000218008.3	+	3	406	c.349T>C	c.(349-351)Ttc>Ctc	p.F117L	ATP1B4_ENST00000361319.3_Missense_Mutation_p.F113L|ATP1B4_ENST00000539306.1_Intron	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	117					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ACTCATTTACTTCTTCTTCTA	0.483000													63	140					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981599	7981599	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:7981599G>T	ENST00000328600.2	-	2	1721	c.1560C>A	c.(1558-1560)atC>atA	p.I520I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	520							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTTTTTCGAGATGTCCAGTA	0.463000													14	41					2.62699e-14	3.84786e-14	1	1	0
ZNF408	79797	broad.mit.edu	37	11	46726653	46726653	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:46726653G>T	ENST00000311764.2	+	5	1633	c.1403G>T	c.(1402-1404)tGc>tTc	p.C468F		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGCCCCTTGCCCATGCCCT	0.662000													35	97					2.75727e-19	4.38286e-19	1	1	0
OR9G1	390174	broad.mit.edu	37	11	56467883	56467883	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56467883C>A	ENST00000312153.1	+	1	20	c.20C>A	c.(19-21)aCa>aAa	p.T7K		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGCAATCATACAGTGACTGAG	0.468000													7	57					0.000157383	0.000171862	1	1	0
WWC1	23286	broad.mit.edu	37	5	167882461	167882461	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:167882461G>T	ENST00000265293.4	+	19	3261	c.2759G>T	c.(2758-2760)cGa>cTa	p.R920L	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.R920L	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	920	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)		CCATTTCTTCGAGGGAGCACC	0.642000													41	117					1.5731e-28	2.60474e-28	1	1	0
NRXN3	9369	broad.mit.edu	37	14	80158584	80158584	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:80158584G>A	ENST00000428277.2	+	4	1056	c.670G>A	c.(670-672)Gag>Aag	p.E224K	NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000557594.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCGGCCTGTAGAGGAGTGGCT	0.338000													23	19					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135038256	135038256	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:135038256G>T	ENST00000304613.3	+	30	5133	c.5112G>T	c.(5110-5112)caG>caT	p.Q1704H	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1706H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1704	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACCTCAAGCAGAGGATTGCCC	0.592000													19	40					2.94398e-08	3.65598e-08	1	1	0
DSEL	92126	broad.mit.edu	37	18	65180507	65180507	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:65180507C>T	ENST00000310045.7	-	2	2842	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	447						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGAACTATGTCATACACAGCT	0.463000													18	63					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71185208	71185208	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:71185208C>A	ENST00000234396.4	+	3	280	c.207C>A	c.(205-207)acC>acA	p.T69T	ATP6V1B1_ENST00000412314.1_Silent_p.T69T|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	69					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TCCACTTCACCCTCCCAGATG	0.592000													6	34					5.18039e-06	5.95582e-06	1	1	0
ZNF623	9831	broad.mit.edu	37	8	144733583	144733583	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:144733583C>A	ENST00000501748.2	+	1	1630	c.1541C>A	c.(1540-1542)tCc>tAc	p.S514Y	ZNF623_ENST00000458270.2_Missense_Mutation_p.S474Y|ZNF623_ENST00000526926.1_Missense_Mutation_p.S474Y	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGGACTCTCCTTGAGTAAG	0.413000													27	69					8.24728e-16	1.24802e-15	1	1	0
CALCB	797	broad.mit.edu	37	11	15096346	15096346	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:15096346T>C	ENST00000523376.1	+	7	1377	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	CALCB_ENST00000324229.6_Missense_Mutation_p.F28L|CALCB_ENST00000533448.1_Missense_Mutation_p.F28L			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	28					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GGCGGCGCCATTCAGGTGAGA	0.617000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	38					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508992	106508992	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:106508992G>T	ENST00000359195.3	+	2	1296	c.986G>T	c.(985-987)tGc>tTc	p.C329F	PIK3CG_ENST00000496166.1_Missense_Mutation_p.C329F|PIK3CG_ENST00000440650.2_Missense_Mutation_p.C329F	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	329					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGGATGACTGCACGGGAGTC	0.597000													14	62					2.35188e-11	3.19409e-11	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153085450	153085450	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:153085450G>T	ENST00000285900.5	+	11	1989	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	GRIA1_ENST00000521843.2_Missense_Mutation_p.G480V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G559V|GRIA1_ENST00000340592.5_Missense_Mutation_p.G549V|GRIA1_ENST00000518783.1_Missense_Mutation_p.G559V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G469V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	549					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTACATTGGAGTGAGTGTT	0.473000													18	80					5.03518e-11	6.76788e-11	1	1	0
ZNF384	171017	broad.mit.edu	37	12	6787360	6787360	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:6787360T>G	ENST00000396795.1	-	5	1116	c.619A>C	c.(619-621)Atg>Ctg	p.M207L	ZNF384_ENST00000319770.3_Missense_Mutation_p.M191L|ZNF384_ENST00000396799.2_Missense_Mutation_p.M207L|ZNF384_ENST00000396801.3_Missense_Mutation_p.M207L|ZNF384_ENST00000361959.3_Missense_Mutation_p.M207L|ZNF384_ENST00000355772.4_Missense_Mutation_p.M152L			Q8TF68	ZN384_HUMAN	zinc finger protein 384	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGTCATTCATCTCGGGCAGC	0.602000			T	"""EWSR1, TAF15 """	ALL								25	139					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196658548	196658548	+	Splice_Site	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:196658548A>T	ENST00000367429.4	+	8	1204		c.e8-1		CFH_ENST00000359637.2_Splice_Site|CFH_ENST00000439155.2_Splice_Site	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ttttattGCAAGTGAAACCTT	0.274000													7	30					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37172764	37172764	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:37172764C>T	ENST00000310758.4	-	14	1809	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A388T|ELMO1_ENST00000341056.3_Missense_Mutation_p.A90T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A388T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	388	ELMO.				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						TGGTGCTTGGCAAAGTACAGC	0.443000													7	48					0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813702	45813702	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:45813702G>T	ENST00000342894.3	+	3	627	c.213G>T	c.(211-213)caG>caT	p.Q71H	RIBC2_ENST00000538017.1_Missense_Mutation_p.Q139H			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	71										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGGAATGCAGAAATTCATGG	0.453000													11	41					6.40141e-05	7.09199e-05	1	1	0
CNGA3	1261	broad.mit.edu	37	2	98986450	98986450	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:98986450C>A	ENST00000393504.1	+	2	429	c.12C>A	c.(10-12)atC>atA	p.I4I	CNGA3_ENST00000272602.2_Silent_p.I4I|CNGA3_ENST00000436404.2_Silent_p.I4I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	4					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGCCAAGATCAACACCCAAT	0.502000													8	24					1.12685e-05	1.27784e-05	1	1	0
NOX3	50508	broad.mit.edu	37	6	155774613	155774613	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:155774613C>T	ENST00000159060.2	-	4	367	c.265G>A	c.(265-267)Gga>Aga	p.G89R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	89	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTCCACGGTCCTCTGCAGCAC	0.393000													41	136					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395018	29395018	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29395018G>A	ENST00000377149.1	-	5	873	c.401C>T	c.(400-402)cCa>cTa	p.P134L	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.P134L|OR11A1_ENST00000377148.1_Missense_Mutation_p.P134L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P134Q(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CATCAGGAGTGGGTAGTGGAG	0.562000													14	47					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150318543	150318543	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:150318543G>T	ENST00000324862.6	+	13	1855	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.A515S	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	564					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TGAAGCCAATGCTGGGCAACT	0.483000													59	249					1.16596e-39	1.95538e-39	1	1	0
DUSP22	56940	broad.mit.edu	37	6	348268	348268	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:348268C>G	ENST00000604971.1	+	3	1233	c.120C>G	c.(118-120)gtC>gtG	p.V40V	DUSP22_ENST00000419235.2_Silent_p.V143V|DUSP22_ENST00000605035.1_Silent_p.V40V|DUSP22_ENST00000344450.5_Silent_p.V143V|DUSP22_ENST00000603453.1_Silent_p.V40V|DUSP22_ENST00000605315.1_Silent_p.V40V|DUSP22_ENST00000605863.1_Silent_p.V40V			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	143					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCATGAGGTCCATCAGGTAA	0.587000													13	107					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98170212	98170212	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:98170212C>T	ENST00000357947.3	-	9	1293	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	356	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCGTTGTGTCCTGCAGGGTCT	0.582000													4	21					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64368360	64368360	+	Silent	SNP	C	C	A	rs145764379		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:64368360C>A	ENST00000377574.1	+	9	2295	c.1548C>A	c.(1546-1548)ccC>ccA	p.P516P	SLC22A12_ENST00000377572.1_Silent_p.P408P|SLC22A12_ENST00000377567.2_Silent_p.P408P|SLC22A12_ENST00000473690.1_Silent_p.P295P|SLC22A12_ENST00000336464.7_Silent_p.P482P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	516					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGCTTCTGCCCGAGACCCAGA	0.667000													33	134					6.97489e-18	1.08789e-17	1	1	0
XPR1	9213	broad.mit.edu	37	1	180756961	180756961	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:180756961A>T	ENST00000367590.4	+	3	392	c.194A>T	c.(193-195)gAa>gTa	p.E65V	XPR1_ENST00000367589.3_Missense_Mutation_p.E65V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	65	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTGAAAAAGAACTTGCCAAA	0.323000													36	96					0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628228	173628228	+	Splice_Site	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:173628228A>T	ENST00000333279.2	-	2	389		c.e2+1			NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45											NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AAGACAAAATACCTCTGGTGG	0.348000													14	51					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122075751	122075751	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:122075751G>C	ENST00000454328.1	-	7	674	c.447C>G	c.(445-447)aaC>aaG	p.N149K	TNIP3_ENST00000507879.1_Missense_Mutation_p.N219K|TNIP3_ENST00000057513.3_Missense_Mutation_p.N149K|TNIP3_ENST00000509841.1_Missense_Mutation_p.N226K			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	149										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CCTTTTCCTTGTTCGCAAGAG	0.348000													6	37					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112724338	112724338	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:112724338G>T	ENST00000369452.4	+	2	567	c.222G>T	c.(220-222)cgG>cgT	p.R74R	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.R74R	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	74					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CGATCAAACGGCCAAACCCAG	0.458000													17	76					4.14922e-12	5.72868e-12	1	1	0
RNF112	7732	broad.mit.edu	37	17	19316364	19316364	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:19316364G>T	ENST00000461366.1	+	4	710	c.495G>T	c.(493-495)agG>agT	p.R165S	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_Intron	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	165							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTCTGGCCAGGGACACCCCAG	0.647000													5	26					0.00116845	0.00124037	1	1	0
CACNB4	785	broad.mit.edu	37	2	152728961	152728961	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:152728961C>A	ENST00000360283.6	-	5	723	c.466G>T	c.(466-468)Ggg>Tgg	p.G156W	CACNB4_ENST00000539935.1_Missense_Mutation_p.G190W|CACNB4_ENST00000427385.1_Missense_Mutation_p.G172W|CACNB4_ENST00000201943.5_Missense_Mutation_p.G190W|CACNB4_ENST00000534999.1_Missense_Mutation_p.G156W|CACNB4_ENST00000397327.2_Missense_Mutation_p.G143W			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	190					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CGGAATGTCCCAGATACCATT	0.368000													19	71					4.35082e-09	5.56174e-09	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55036774	55036774	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55036774G>T	ENST00000417545.2	+	5	721	c.635G>T	c.(634-636)gGg>gTg	p.G212V		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	196						intracellular	zinc ion binding	p.G212E(1)|p.G196E(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCAGGGCAGGGCCCATCACT	0.502000													9	45					3.07112e-06	3.55317e-06	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38881726	38881726	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:38881726G>A	ENST00000359357.3	+	65	9564	c.9310G>A	c.(9310-9312)Gaa>Aaa	p.E3104K	DNAH8_ENST00000449981.2_Missense_Mutation_p.E3321K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3068K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGCAGACGAAGTGAGTTT	0.368000													7	27					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112881	248112881	+	Missense_Mutation	SNP	G	G	T	rs146257427		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248112881G>T	ENST00000357191.3	+	1	722	c.722G>T	c.(721-723)aGc>aTc	p.S241I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	241					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)			TTGACCTGCAGCACCCACCTC	0.458000													33	79					1.03484e-13	1.49422e-13	1	1	0
ZNF788	388507	broad.mit.edu	37	19	12221239	12221239	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:12221239C>A	ENST00000430298.2	+	2	328	c.123C>A	c.(121-123)gcC>gcA	p.A41A	ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000596883.1_Silent_p.A61A|ZNF788_ENST00000339302.4_5'UTR					zinc finger family member 788											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						GGAACTTGGCCTCTATAGGTA	0.443000													5	13					0.000602214	0.00064528	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22925396	22925396	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:22925396G>T	ENST00000166244.3	+	13	2316	c.2244G>T	c.(2242-2244)atG>atT	p.M748I		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	748	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGCCGGCATGCGCTACCTCT	0.622000													4	23					2.56e-06	2.98069e-06	1	1	0
RGS7BP	401190	broad.mit.edu	37	5	63871635	63871635	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:63871635C>A	ENST00000334025.2	+	3	693	c.367C>A	c.(367-369)Cgg>Agg	p.R123R	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	123					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AGAAATCTGTCGGCTTTACAT	0.433000													7	21					1	1	1	1	0
TEKT5	146279	broad.mit.edu	37	16	10788335	10788335	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:10788335C>G	ENST00000283025.2	-	1	467	c.396G>C	c.(394-396)caG>caC	p.Q132H		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	132					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CCTCCTGCATCTGGTGCGTCA	0.637000													57	175					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73716882	73716882	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:73716882G>T	ENST00000264448.6	+	10	7904	c.7793G>T	c.(7792-7794)aGa>aTa	p.R2598I	ALMS1_ENST00000409009.1_Missense_Mutation_p.R2556I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2598					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.R2598I(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAACTAGATAGACACCCTTGT	0.468000													23	67					1.55795e-14	2.29671e-14	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32474837	32474837	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:32474837C>A	ENST00000404025.2	-	5	2584	c.2096G>T	c.(2095-2097)gGt>gTt	p.G699V	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.G699V|NLRC4_ENST00000402280.1_Missense_Mutation_p.G699V			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	699					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCAGCCACACCAGCACATCT	0.473000													29	82					2.4375e-19	3.89488e-19	1	1	0
ZNF185	7739	broad.mit.edu	37	X	152088889	152088889	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:152088889G>A	ENST00000535861.1	+	8	596	c.548G>A	c.(547-549)gGt>gAt	p.G183D	ZNF185_ENST00000324823.6_Missense_Mutation_p.G48D|ZNF185_ENST00000370270.1_Missense_Mutation_p.G43D|ZNF185_ENST00000370268.4_Missense_Mutation_p.G183D|ZNF185_ENST00000449285.2_Missense_Mutation_p.G183D|ZNF185_ENST00000318504.7_Missense_Mutation_p.G183D|ZNF185_ENST00000539731.1_Missense_Mutation_p.G183D|ZNF185_ENST00000318529.8_Intron	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	183						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAAGCGGTGTTCTGAGG	0.632000													14	50					0	0	1	0	0
HSPB3	8988	broad.mit.edu	37	5	53751987	53751987	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:53751987G>T	ENST00000302005.1	+	1	543	c.368G>T	c.(367-369)gGt>gTt	p.G123V		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	123					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				CTACCAGATGGTGTGGAAATC	0.458000													25	101					7.88262e-20	1.26621e-19	1	1	0
HHIP	64399	broad.mit.edu	37	4	145580839	145580839	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:145580839G>T	ENST00000296575.3	+	4	1335	c.680G>T	c.(679-681)cGg>cTg	p.R227L	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R227L	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGTGGGCTGCGGCAGCCCGTT	0.448000													31	147					3.99451e-17	6.1881e-17	1	1	0
PRPF3	9129	broad.mit.edu	37	1	150316708	150316708	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:150316708C>T	ENST00000324862.6	+	11	1662	c.1497C>T	c.(1495-1497)caC>caT	p.H499H	PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.H450H	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	499					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TAGAAGCCCACGTCAGAGCTC	0.473000													6	42					0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73620528	73620528	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:73620528G>A	ENST00000544909.1	+	5	877	c.620G>A	c.(619-621)gGg>gAg	p.G207E	PAAF1_ENST00000310571.3_Missense_Mutation_p.G206E|PAAF1_ENST00000541951.1_Missense_Mutation_p.G91E|PAAF1_ENST00000544552.1_Missense_Mutation_p.G189E|PAAF1_ENST00000536003.1_Missense_Mutation_p.G189E|PAAF1_ENST00000376384.5_Missense_Mutation_p.G189E|PAAF1_ENST00000535604.1_Missense_Mutation_p.G91E			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	206					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGGGATTGTGGGCGCTCAGCC	0.532000													25	50					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55751267	55751267	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55751267T>A	ENST00000412770.2	-	13	2056	c.1490A>T	c.(1489-1491)gAg>gTg	p.E497V	PPP6R1_ENST00000587283.1_Missense_Mutation_p.E497V	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	497					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CTCCTGCTGCTCGCTGGGCAG	0.642000													10	39					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17142004	17142004	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:17142004C>A	ENST00000377833.4	-	14	1830	c.1765_splice	c.e14+1	p.E589_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	589					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACACATACCTGGTTGCTGT	0.373000													24	71					1.03073e-24	1.68833e-24	1	1	0
ONECUT1	3175	broad.mit.edu	37	15	53081360	53081360	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:53081360A>G	ENST00000305901.5	-	1	849	c.722T>C	c.(721-723)aTg>aCg	p.M241T	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	241					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GATGGGCACCATGCCGGCCGA	0.711000													36	106					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67647535	67647535	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:67647535A>T	ENST00000478722.1	+	23	3312	c.2191A>T	c.(2191-2193)Agc>Tgc	p.S731C	GPHN_ENST00000315266.5_Missense_Mutation_p.S698C|GPHN_ENST00000305960.9_Missense_Mutation_p.S667C|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.S744C	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	698	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TCAAATGAGCAGCCGTCTGAT	0.453000			T	MLL	AL								17	15					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444905	78444905	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:78444905A>G	ENST00000397909.2	+	11	2667	c.2494A>G	c.(2494-2496)Agg>Ggg	p.R832G	NAV3_ENST00000266692.7_Missense_Mutation_p.R832G|NAV3_ENST00000536525.2_Missense_Mutation_p.R832G|NAV3_ENST00000228327.6_Missense_Mutation_p.R832G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	832						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAAAGTCTCAGGACTGATGA	0.448000										HNSCC(70;0.22)			18	55					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132860136	132860136	+	RNA	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:132860136C>G	ENST00000434551.1	+	0	708					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GTACAGCCAGCCAAGCTCAGT	0.423000													17	46					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802640	140802640	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140802640G>C	ENST00000398587.2	+	1	1879	c.1846G>C	c.(1846-1848)Gga>Cga	p.G616R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G616R|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGAGCCGGGACTCTTCGC	0.652000													38	88					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1526596	1526596	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:1526596C>G	ENST00000389470.4	-	22	3216	c.3217G>C	c.(3217-3219)Gag>Cag	p.E1073Q	INTS1_ENST00000404767.3_Missense_Mutation_p.E930Q			Q8N201	INT1_HUMAN	integrator complex subunit 1	930					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCTCGCCCTCGTCGTCCTCC	0.692000													4	15					0	0	1	0	0
MCCD1	401250	broad.mit.edu	37	6	31497642	31497642	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:31497642T>C	ENST00000376191.2	+	2	588	c.290T>C	c.(289-291)cTg>cCg	p.L97P		NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	97						mitochondrion				skin(1)	1						GCCCAAGCCCTGGTGCTCAAG	0.622000													7	11					0	0	1	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31811836	31811836	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:31811836C>T	ENST00000373714.1	+	5	519	c.258C>T	c.(256-258)tcC>tcT	p.S86S	ZCCHC17_ENST00000546109.1_Silent_p.S78S|ZCCHC17_ENST00000344147.5_Silent_p.S86S|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Silent_p.S62S|RP11-266K22.2_ENST00000430143.1_RNA			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	86	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TATCCCTCTCCATGAAGGTTG	0.348000													6	26					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31711637	31711637	+	Missense_Mutation	SNP	C	C	A	rs140348808		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:31711637C>A	ENST00000320027.5	-	18	2739	c.2395G>T	c.(2395-2397)Gtt>Ttt	p.V799F	HSPH1_ENST00000429785.2_Missense_Mutation_p.V618F|HSPH1_ENST00000380405.4_Missense_Mutation_p.V755F|HSPH1_ENST00000445273.2_Missense_Mutation_p.V801F|HSPH1_ENST00000380406.5_Missense_Mutation_p.V758F	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	799					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGTGTTACAACGGGTTCACAT	0.348000													10	24					1.76689e-08	2.20922e-08	1	1	0
ZBTB49	166793	broad.mit.edu	37	4	4322518	4322518	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:4322518G>C	ENST00000337872.4	+	8	1894	c.1773G>C	c.(1771-1773)gaG>gaC	p.E591D	ZBTB49_ENST00000538529.1_Missense_Mutation_p.E74D|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E469D	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTGGTGACGAGAGCCCAGATG	0.567000													17	37					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183885461	183885461	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:183885461G>T	ENST00000313143.3	+	12	1540	c.1292G>T	c.(1291-1293)cGc>cTc	p.R431L	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.R414L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	431	DEP.			R -> C (in Ref. 1; AAB47447).	canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTCCGTGACCGCATGTGGCTC	0.597000													8	58					0.0381472	0.0386547	1	1	0
CD5L	922	broad.mit.edu	37	1	157805734	157805734	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:157805734G>T	ENST00000368174.4	-	3	363	c.267C>A	c.(265-267)gtC>gtA	p.V89V		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	89	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			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)			ATTGGATGAGGACCTTTTGCT	0.498000													47	223					4.25531e-23	6.9577e-23	1	1	0
OR9I1	219954	broad.mit.edu	37	11	57886290	57886290	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:57886290G>T	ENST00000302610.1	-	1	626	c.627C>A	c.(625-627)gcC>gcA	p.A209A	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CGGAGGCATTGGCCAAAATCA	0.473000													13	36					2.68362e-12	3.73338e-12	1	1	0
IPO8	10526	broad.mit.edu	37	12	30802157	30802157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:30802157C>A	ENST00000256079.4	-	20	2520	c.2182G>T	c.(2182-2184)Gga>Tga	p.G728*	IPO8_ENST00000544829.1_Nonsense_Mutation_p.G523*	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	728					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTGCATCTCCACATAGTACC	0.418000													17	49					1.67942e-08	2.11431e-08	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22068766	22068766	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22068766G>T	ENST00000261200.4	-	5	651	c.652C>A	c.(652-654)Cca>Aca	p.P218T	ABCC9_ENST00000345162.2_Missense_Mutation_p.P218T|ABCC9_ENST00000261201.4_Missense_Mutation_p.P218T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	218					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCACAAATGGTTGAAGAAAT	0.378000													14	35					2.32078e-09	2.97921e-09	1	1	0
UNC5CL	222643	broad.mit.edu	37	6	41001649	41001649	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:41001649A>C	ENST00000244565.3	-	3	745	c.657T>G	c.(655-657)gaT>gaG	p.D219E	UNC5CL_ENST00000373164.1_Missense_Mutation_p.D219E	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	219	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCGACACTCATCCCGGGAGG	0.627000													11	32					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96784149	96784149	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:96784149G>T	ENST00000359933.4	-	19	3816	c.2923C>A	c.(2923-2925)Cca>Aca	p.P975T		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	975										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTCTCCACTGGTGAAGGAGCT	0.368000													53	65					2.23044e-30	3.70658e-30	1	1	0
OR51B6	390058	broad.mit.edu	37	11	5372757	5372757	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:5372757C>T	ENST00000380219.1	+	1	20	c.20C>T	c.(19-21)gCt>gTt	p.A7V	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAAGTCTGCTTCCACCTTC	0.433000													6	16					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548115	4548115	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:4548115C>T	ENST00000586582.1	-	14	1835	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S	SEMA6B_ENST00000586965.1_Missense_Mutation_p.G509S|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G509S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	509	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGGCCCCCCGAAGCT	0.692000													7	14					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37646793	37646793	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:37646793C>A	ENST00000356958.4	-	4	524	c.266G>T	c.(265-267)gGt>gTt	p.G89V	ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G34V|ZNF585A_ENST00000392157.2_Missense_Mutation_p.G34V|ZNF585A_ENST00000355533.2_Missense_Mutation_p.G34V			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGCCTCTCACCCTGCAGTGC	0.522000													16	40					6.44725e-10	8.38234e-10	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78414934	78414934	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:78414934T>C	ENST00000370767.1	-	19	1919	c.1832A>G	c.(1831-1833)tAt>tGt	p.Y611C	FUBP1_ENST00000370768.2_Missense_Mutation_p.Y611C|FUBP1_ENST00000436586.2_Missense_Mutation_p.Y632C			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	611					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGCTGCACTATAATCTGGCTG	0.493000			"""F, N"""		oligodendroglioma								29	58					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52344242	52344242	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:52344242T>G	ENST00000354831.7	-	1	235	c.46A>C	c.(46-48)Aag>Cag	p.K16Q	NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.K16Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	16					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCACACAACTTCCTCCGGGTG	0.637000													7	17					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	896737	896737	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:896737C>A	ENST00000381922.3	-	1	223	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C	ANGPT4_ENST00000546022.1_Missense_Mutation_p.G41C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	41					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.G41S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTACAGTGGCCGTGCTGGACT	0.617000													31	93					1.36615e-20	2.21393e-20	1	1	0
PPP2R2B	5521	broad.mit.edu	37	5	146017861	146017861	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:146017861C>A	ENST00000394413.3	-	6	1313	c.743G>T	c.(742-744)cGg>cTg	p.R248L	PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R314L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R251L|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R237L|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R248L|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R248L|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R248L|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R254L|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R306L|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R237L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	248					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCACACAGCCGGATTGTCCC	0.587000													7	60					0.000157383	0.000171862	1	1	0
TPH2	121278	broad.mit.edu	37	12	72372829	72372829	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:72372829C>T	ENST00000333850.3	+	7	1044	c.903C>T	c.(901-903)taC>taT	p.Y301Y		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	301					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTACCCAGTACATCCGGCATG	0.542000													42	139					0	0	1	0	0
FAM9B	171483	broad.mit.edu	37	X	9001122	9001122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:9001122G>T	ENST00000362066.3	-	1	229	c.41C>A	c.(40-42)tCa>tAa	p.S14*	FAM9B_ENST00000327220.5_Intron			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	0						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CGAACCTGGTGAGCGCAAAGA	0.592000													6	15					0.00116845	0.00124037	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129694087	129694087	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:129694087G>C	ENST00000422113.2	-	5	1747	c.1421C>G	c.(1420-1422)tCg>tGg	p.S474W	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	474						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCATCAGACGATCTACACTC	0.592000													10	35					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71801373	71801373	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:71801373C>G	ENST00000258104.3	+	30	3497	c.3220C>G	c.(3220-3222)Ctt>Gtt	p.L1074V	DYSF_ENST00000394120.2_Missense_Mutation_p.L1075V|DYSF_ENST00000409744.1_Missense_Mutation_p.L1061V|DYSF_ENST00000413539.2_Missense_Mutation_p.L1105V|DYSF_ENST00000429174.2_Missense_Mutation_p.L1074V|DYSF_ENST00000410020.3_Missense_Mutation_p.L1092V|DYSF_ENST00000410041.1_Missense_Mutation_p.L1092V|DYSF_ENST00000409762.1_Missense_Mutation_p.L1091V|DYSF_ENST00000409651.1_Missense_Mutation_p.L1106V|DYSF_ENST00000409366.1_Missense_Mutation_p.L1075V|DYSF_ENST00000409582.3_Missense_Mutation_p.L1091V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1074	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTACGCCTCTCTTTTTGGCTG	0.667000													39	142					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45695847	45695847	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:45695847G>C	ENST00000303230.4	-	1	406	c.349C>G	c.(349-351)Cag>Gag	p.Q117E		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	117	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCTTCTGGCTCCCAAAC	0.607000													14	34					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134146974	134146974	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:134146974G>C	ENST00000220616.4	+	48	8283	c.8243G>C	c.(8242-8244)gGa>gCa	p.G2748A	TG_ENST00000519543.1_Missense_Mutation_p.G881A|TG_ENST00000542445.1_Missense_Mutation_p.G1118A|TG_ENST00000377869.1_Missense_Mutation_p.G2691A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2748					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGACGGCTGGATCTGGGCTA	0.562000													14	75					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	43022374	43022374	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:43022374G>T	ENST00000399770.2	+	3	631	c.631G>T	c.(631-633)Gct>Tct	p.A211S		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	211	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTAATAGGGTGCTGAGAAAAT	0.338000													8	19					0.00307968	0.00322431	1	1	0
HAND1	9421	broad.mit.edu	37	5	153855371	153855371	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:153855371G>T	ENST00000231121.2	-	2	898	c.643C>A	c.(643-645)Cag>Aag	p.Q215K		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	215					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCGGCTCACTGGTTTAACTCC	0.677000													5	39					0.000602214	0.00064528	1	1	0
KCNIP2	30819	broad.mit.edu	37	10	103588855	103588855	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:103588855C>A	ENST00000358038.3	-	3	622	c.271G>T	c.(271-273)Gtc>Ttc	p.V91F	KCNIP2_ENST00000343195.4_Missense_Mutation_p.V59F|KCNIP2_ENST00000348850.5_Missense_Mutation_p.V64F|KCNIP2_ENST00000461105.1_Missense_Mutation_p.V124F|KCNIP2_ENST00000353068.3_Missense_Mutation_p.V59F|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000370046.1_Missense_Mutation_p.V59F|KCNIP2_ENST00000356640.2_Missense_Mutation_p.V109F	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	109	EF-hand 1; degenerate.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CGGTACAGGACCTGCAACTCC	0.587000													10	52					1.61879e-10	2.12583e-10	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140432032	140432032	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140432032G>T	ENST00000306549.3	+	1	1054	c.977G>T	c.(976-978)gGc>gTc	p.G326V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		326	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGGTGGAGGCCTCTCTGCC	0.498000													20	101					9.95505e-16	1.50147e-15	1	1	0
OR9Q1	219956	broad.mit.edu	37	11	57947814	57947814	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:57947814C>A	ENST00000335397.3	+	3	1214	c.898C>A	c.(898-900)Ctg>Atg	p.L300M		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAAGGAGGCCCTGAGAAAAAT	0.473000													14	53					0.00185496	0.00196004	1	1	0
ABCC9	10060	broad.mit.edu	37	12	22061099	22061099	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22061099G>T	ENST00000261200.4	-	9	1366	c.1367C>A	c.(1366-1368)gCa>gAa	p.A456E	ABCC9_ENST00000345162.2_Missense_Mutation_p.A456E|ABCC9_ENST00000261201.4_Missense_Mutation_p.A456E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	456	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACCGACCAATGCACTTGATCC	0.423000													5	32					1.024e-07	1.26137e-07	1	1	0
MAGI2	9863	broad.mit.edu	37	7	77885797	77885797	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:77885797G>T	ENST00000354212.4	-	10	1763	c.1510C>A	c.(1510-1512)Ctg>Atg	p.L504M	MAGI2_ENST00000535697.1_Missense_Mutation_p.L341M|MAGI2_ENST00000522391.1_Missense_Mutation_p.L504M|MAGI2_ENST00000419488.1_Missense_Mutation_p.L504M|MAGI2_ENST00000536571.1_Missense_Mutation_p.L336M	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	504	PDZ 2.					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)				CACAACACCAGGTTGACACTC	0.468000													8	26					1.06961e-07	1.31578e-07	1	1	0
KCNJ3	3760	broad.mit.edu	37	2	155711349	155711349	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:155711349C>A	ENST00000295101.2	+	3	1507	c.1030C>A	c.(1030-1032)Cag>Aag	p.Q344K	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	344					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGATTACTCCCAGTTCCATGC	0.423000													22	48					5.26018e-13	7.43092e-13	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79029056	79029056	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:79029056A>G	ENST00000446378.2	+	2	4499	c.4468A>G	c.(4468-4470)Agg>Ggg	p.R1490G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1490						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAGGAAGCAAGGGTAGAAGA	0.393000													16	88					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15617509	15617509	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:15617509T>C	ENST00000378076.3	-	24	2810	c.2457A>G	c.(2455-2457)ccA>ccG	p.P819P		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	819					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTCCACCAATGGTCCAACCT	0.418000													14	52					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597769	47597769	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:47597769C>G	ENST00000253048.5	-	3	295	c.258G>C	c.(256-258)aaG>aaC	p.K86N	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	86							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCTTCTCCCCCTTTTCTTTCC	0.527000													93	263					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204305156	204305156	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:204305156G>T	ENST00000319170.5	-	14	3056	c.2757C>A	c.(2755-2757)ccC>ccA	p.P919P	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.P971P	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	919					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTCAGGAGGGGGAGGAGGGA	0.602000													26	71					7.92952e-12	1.08659e-11	1	1	0
SETD1A	9739	broad.mit.edu	37	16	30991330	30991330	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:30991330C>T	ENST00000262519.8	+	14	4909	c.4223C>T	c.(4222-4224)cCg>cTg	p.P1408L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1408	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						cccccacccccgccgccaccg	0.692000													6	5					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25475852	25475852	+	RNA	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:25475852C>G	ENST00000453082.2	+	0	1447					NR_003343.1																						TTTTCCTGGGCCAGTGTCCAT	0.622000													10	25					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101075745	101075745	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:101075745G>C	ENST00000369162.2	-	28	4838	c.4494C>G	c.(4492-4494)gaC>gaG	p.D1498E		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1498	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATCAGCAAGGTCTCTGGCAT	0.328000													12	32					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56152955	56152955	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:56152955C>G	ENST00000508342.1	-	6	2252	c.1953G>C	c.(1951-1953)gaG>gaC	p.E651D	NEDD4_ENST00000338963.2_Missense_Mutation_p.E579D|NEDD4_ENST00000435532.3_Missense_Mutation_p.E232D|NEDD4_ENST00000506154.1_Missense_Mutation_p.E635D			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	651	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGTTGCCATTCTCAGCATCTG	0.418000													8	72					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958603	121958603	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:121958603C>T	ENST00000379692.4	-	4	1049	c.523G>A	c.(523-525)Gag>Aag	p.E175K	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	175										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TAGGGTAACTCAGGGTATGGC	0.488000													37	110					0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656401	240656401	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:240656401G>T	ENST00000318160.4	-	2	641	c.375C>A	c.(373-375)ccC>ccA	p.P125P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	125	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TGACGCGCTGGGGCTTGCAGA	0.617000													24	62					7.92952e-12	1.08659e-11	1	1	0
DMWD	1762	broad.mit.edu	37	19	46289271	46289271	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:46289271T>A	ENST00000270223.6	-	3	1528	c.1483A>T	c.(1483-1485)Agt>Tgt	p.S495C	DMWD_ENST00000377735.3_Missense_Mutation_p.S495C	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	495					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGCGGGAGACTGTTGGAGCGG	0.736000													6	12					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57292352	57292352	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:57292352G>T	ENST00000543872.2	+	5	3229	c.2965G>T	c.(2965-2967)Gta>Tta	p.V989L	SMG8_ENST00000300917.5_Missense_Mutation_p.V989L|CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.V108L			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	989					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TCTTAAGGCAGTAACACAATA	0.408000													15	63					3.41278e-10	4.45612e-10	1	1	0
APLP1	333	broad.mit.edu	37	19	36361823	36361823	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36361823G>A	ENST00000221891.4	+	3	509	c.317G>A	c.(316-318)cGt>cAt	p.R106H	APLP1_ENST00000586861.1_Missense_Mutation_p.R100H|APLP1_ENST00000537454.2_Missense_Mutation_p.R67H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	106					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGATTGCACGTGTGGAGCAG	0.692000													3	15					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56270806	56270806	+	Missense_Mutation	SNP	C	C	A	rs144925948		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:56270806C>A	ENST00000225371.5	+	3	355	c.245C>A	c.(244-246)gCc>gAc	p.A82D		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	82					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCGGTAGCAGCCACCAGGACA	0.582000													39	119					5.73237e-09	7.28704e-09	1	1	0
SRPK1	6732	broad.mit.edu	37	6	35837403	35837403	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:35837403C>G	ENST00000373825.2	-	11	1552	c.1267G>C	c.(1267-1269)Gac>Cac	p.D423H	SRPK1_ENST00000373822.1_Missense_Mutation_p.D316H|SRPK1_ENST00000423325.2_Missense_Mutation_p.D407H			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	423	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCATGGTGTCTGACACCTCA	0.438000													16	44					0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38713074	38713074	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:38713074G>A	ENST00000416611.1	-	3	347	c.224C>T	c.(223-225)cCc>cTc	p.P75L	DPF1_ENST00000412732.1_Missense_Mutation_p.P19L|DPF1_ENST00000456296.1_Missense_Mutation_p.P75L|DPF1_ENST00000420980.2_Missense_Mutation_p.P101L|DPF1_ENST00000414789.1_Missense_Mutation_p.P19L|DPF1_ENST00000355526.4_Missense_Mutation_p.P101L			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	101					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACAGCGGGCGGGGTACGTGTA	0.701000													54	143					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431010	179431010	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179431010T>C	ENST00000589042.1	-	326	80073	c.79849A>G	c.(79849-79851)Aaa>Gaa	p.K26617E	TTN_ENST00000359218.5_Missense_Mutation_p.K17677E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24049E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17744E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K24976E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17552E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24976	Fibronectin type-III 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACGACCTTTGAATGGAATG	0.413000													37	113					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155208590	155208590	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:155208590C>G	ENST00000460012.1	-	19	2642	c.2285G>C	c.(2284-2286)cGt>cCt	p.R762P	PLCH1_ENST00000494598.1_Missense_Mutation_p.R780P|PLCH1_ENST00000414191.1_Missense_Mutation_p.R762P|PLCH1_ENST00000340059.7_Missense_Mutation_p.R780P|PLCH1_ENST00000447496.2_Missense_Mutation_p.R780P|PLCH1_ENST00000334686.6_Missense_Mutation_p.R762P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	780	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCTACCACACGGGTTTGATC	0.308000													20	34					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615873	140615873	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140615873G>T	ENST00000526308.1	+	0	1936					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGCCGAGCCGGGCTACCTGGT	0.701000													28	130					1.7881e-09	2.30511e-09	1	1	0
MEF2C	4208	broad.mit.edu	37	5	88057117	88057117	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:88057117C>A	ENST00000504921.2	-	4	959	c.287G>T	c.(286-288)tGt>tTt	p.C96F	MEF2C_ENST00000506554.1_Missense_Mutation_p.C96F|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000340208.5_Missense_Mutation_p.C96F|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000514015.1_Missense_Mutation_p.C96F|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000510942.1_Missense_Mutation_p.C96F|MEF2C_ENST00000508569.1_Missense_Mutation_p.C96F|MEF2C_ENST00000514028.1_Missense_Mutation_p.C96F|MEF2C_ENST00000437473.2_Missense_Mutation_p.C96F			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	96					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGGGCTGTCACAGCCATTAAG	0.443000										HNSCC(66;0.2)			16	74					1.99824e-07	2.42226e-07	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26423551	26423551	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:26423551T>A	ENST00000335473.7	+	43	7861	c.7611T>A	c.(7609-7611)ggT>ggA	p.G2537G	MYO18B_ENST00000407587.2_Silent_p.G2538G|MYO18B_ENST00000536101.1_Silent_p.G2537G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2537						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						CGGGTGACGGTGGCGAGCGAA	0.567000													8	27					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4488609	4488609	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:4488609G>C	ENST00000237837.1	-	1	285	c.140C>G	c.(139-141)gCc>gGc	p.A47G		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	47					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCTGTTCCTGGCTGTGGCTGT	0.597000													12	104					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20027338	20027338	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:20027338C>A	ENST00000294543.6	-	14	1546	c.1305G>T	c.(1303-1305)gcG>gcT	p.A435A	TMCO4_ENST00000375127.1_Silent_p.A435A|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.A395A	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	435						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTCCACAGGCGCACCCAGCA	0.597000													20	86					2.94398e-08	3.65598e-08	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92735238	92735238	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:92735238C>A	ENST00000379958.2	-	3	442	c.173G>T	c.(172-174)gGc>gTc	p.G58V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	58	SAM.					cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTGTGATGCCCATATCAAC	0.383000													23	78					1.10923e-09	1.43197e-09	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131853236	131853236	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:131853236C>A	ENST00000359827.3	-	22	5075	c.4113G>T	c.(4111-4113)acG>acT	p.T1371T	PLXNA4_ENST00000321063.4_Silent_p.T1371T			Q9HCM2	PLXA4_HUMAN	plexin A4	1371						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGACTCAAGCGTGCGGATGA	0.602000													19	51					2.94398e-08	3.65598e-08	1	1	0
BAHCC1	57597	broad.mit.edu	37	17	79428113	79428113	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:79428113C>A	ENST00000307745.7	+	30	6424	c.6424C>A	c.(6424-6426)Cac>Aac	p.H2142N	RP11-1055B8.8_ENST00000572590.1_RNA																							GTTCCCCGTGCACAGCGTGGC	0.706000													6	12					0.0293803	0.0298043	1	1	0
KCNC4	3749	broad.mit.edu	37	1	110754352	110754352	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:110754352T>A	ENST00000369787.3	+	1	258	c.231T>A	c.(229-231)gaT>gaA	p.D77E	KCNC4_ENST00000438661.2_Missense_Mutation_p.D77E|KCNC4_ENST00000413138.3_Missense_Mutation_p.D77E	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	77					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGAGACcgatggcggcggtg	0.721000													4	16					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118124510	118124510	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:118124510G>T	ENST00000365713.2	+	4	1442	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	LONRF3_ENST00000422289.2_Missense_Mutation_p.A212S|LONRF3_ENST00000371628.3_Missense_Mutation_p.A468S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.A427S			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	468					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.A468T(1)|p.A427T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTTGAATGCGCTCTATGTAT	0.468000													24	55					1.64293e-13	2.36479e-13	1	1	0
AGXT2	64902	broad.mit.edu	37	5	35037089	35037089	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:35037089T>C	ENST00000231420.6	-	4	644	c.444A>G	c.(442-444)gaA>gaG	p.E148E		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	148					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TCTCTGCATATTCATGCATTG	0.493000													19	96					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437783	120437783	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:120437783G>T	ENST00000369400.1	-	1	1335	c.1177C>A	c.(1177-1179)Cca>Aca	p.P393T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	393	Peptidase M12B.				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)		CCTAGTCCTGGGATATTATTT	0.413000													30	92					2.65835e-16	4.0699e-16	1	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27998581	27998581	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:27998581C>T	ENST00000441525.1	-	1	985	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	291										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGAGCCAACTCGTGGGCAGGT	0.512000													17	34					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33194832	33194832	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:33194832A>C	ENST00000309558.3	-	5	1709	c.1292T>G	c.(1291-1293)aTg>aGg	p.M431R		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	431					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTATGGGTCATGCCCTCGCT	0.512000													5	14					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326268	25326268	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:25326268C>A	ENST00000549804.2	+	0	1408																											AAACCCGTGTCATGAGGGATG	0.542000													4	7					2.56e-06	2.98069e-06	1	1	0
GPR149	344758	broad.mit.edu	37	3	154055683	154055683	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:154055683C>T	ENST00000389740.2	-	4	2100	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	667						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)			AGGCTGTTTCCCCTAGGTCAC	0.433000													82	119					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106109690	106109690	+	RNA	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:106109690C>T	ENST00000390545.2	-	0	830																											CGTCGGAGTCCAGCATGGGAG	0.587000													47	399					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789689	133789689	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:133789689C>T	ENST00000321016.8	-	18	4161	c.3931G>A	c.(3931-3933)Ggg>Agg	p.G1311R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1311R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1311	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AATTCCTCCCCCGTCCTTCGA	0.677000													5	15					0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109441841	109441841	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:109441841G>A	ENST00000262844.5	-	6	1076	c.909C>T	c.(907-909)acC>acT	p.T303T	AMMECR1_ENST00000372057.1_Silent_p.T180T|AMMECR1_ENST00000372059.2_Silent_p.T266T	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	303	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CATAGCTCAGGGTCATCTTTT	0.448000													13	20					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153594929	153594929	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153594929C>A	ENST00000422373.1	-	7	1314		c.e7+1		FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site|FLNA_ENST00000344736.4_Splice_Site	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGGGCTCACCTTATGAGTC	0.632000													15	76					1.3612e-06	1.60534e-06	1	1	0
NWD1	284434	broad.mit.edu	37	19	16860285	16860285	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:16860285C>T	ENST00000524140.2	+	6	1250	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	NWD1_ENST00000552788.1_Missense_Mutation_p.L278F|NWD1_ENST00000523826.1_Missense_Mutation_p.L72F|NWD1_ENST00000549814.1_Missense_Mutation_p.L278F|NWD1_ENST00000339803.6_Missense_Mutation_p.L143F|NWD1_ENST00000379808.3_Missense_Mutation_p.L278F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	278							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACCAGGTCCTCACACGCCT	0.607000													5	22					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040480	247040480	+	Missense_Mutation	SNP	G	G	T	rs147399261		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247040480G>T	ENST00000366508.1	-	22	3026	c.2890C>A	c.(2890-2892)Cca>Aca	p.P964T	AHCTF1_ENST00000391829.2_Missense_Mutation_p.P929T|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P938T			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	929	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-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)			TCTGTAAATGGTAACTTCAGT	0.348000													18	67					4.96729e-08	6.13527e-08	1	1	0
HSFY1P1	27437	broad.mit.edu	37	22	17308430	17308430	+	RNA	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:17308430A>T	ENST00000425038.1	+	0	67					NR_003607.1																						CTAAAGAATTACTTATTTGAG	0.413000													4	17					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687041	21687041	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:21687041C>A	ENST00000444366.2	+	1	181	c.180C>A	c.(178-180)tcC>tcA	p.S60S	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron			P15863	PAX1_HUMAN	paired box 1	83					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GTGTTTTCTCCCCCTCCGGCT	0.667000													14	60					1.15088e-07	1.40254e-07	1	1	0
KPNA1	3836	broad.mit.edu	37	3	122145935	122145935	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:122145935C>T	ENST00000344337.6	-	14	1690	c.1514G>A	c.(1513-1515)gGg>gAg	p.G505E	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	505					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATCTTCGGTCCCGAAGTAATG	0.433000													12	59					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349070	150349070	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:150349070C>A	ENST00000218316.3	+	2	1084	c.1015C>A	c.(1015-1017)Cgt>Agt	p.R339S		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	339	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCGCGCCCGTGCCCATGC	0.577000													53	141					9.72345e-25	1.59555e-24	1	1	0
ZFP82	284406	broad.mit.edu	37	19	36884837	36884837	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36884837T>C	ENST00000392161.3	-	5	647	c.405A>G	c.(403-405)gaA>gaG	p.E135E	ZFP82_ENST00000392171.1_Silent_p.E135E	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAAGTATCCTTCTTGAGGTC	0.383000													15	52					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935052	56935052	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56935052A>G	ENST00000333201.9	+	5	1235	c.1025A>G	c.(1024-1026)cAt>cGt	p.H342R	ZNF583_ENST00000291598.7_Missense_Mutation_p.H342R|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTTGCTCAGCATCAGAGAATT	0.413000													21	97					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077425	32077425	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:32077425C>A	ENST00000354689.6	+	0	40				RP11-1166P10.6_ENST00000566806.1_RNA																							CTTGGTACAGCCTGGGGGGTC	0.577000													39	219					4.16155e-14	6.08584e-14	1	1	0
BEST3	144453	broad.mit.edu	37	12	70065252	70065252	+	Silent	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70065252A>C	ENST00000330891.5	-	9	1282	c.1056T>G	c.(1054-1056)gcT>gcG	p.A352A	BEST3_ENST00000331471.4_Silent_p.A352A|BEST3_ENST00000553096.1_Silent_p.A246A|BEST3_ENST00000488961.1_Silent_p.A139A|BEST3_ENST00000476098.1_Silent_p.A139A	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	352						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCAGTAGTCAGCAGCTGCCA	0.448000													17	48					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034996	58034996	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:58034996T>A	ENST00000395079.2	-	1	736	c.335A>T	c.(334-336)gAc>gTc	p.D112V		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CACATAGCGGTCATAGGCCAT	0.532000													17	39					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049474	23049474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:23049474C>T	ENST00000221132.3	-	10	1204	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	380	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGAGCTGGTCCCAGGAGTCAA	0.522000													22	36					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152639309	152639309	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:152639309C>A	ENST00000367255.5	-	86	17080	c.16479G>T	c.(16477-16479)ctG>ctT	p.L5493L	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.L5422L|SYNE1_ENST00000448038.1_Silent_p.L5422L|SYNE1_ENST00000356820.4_Silent_p.L17L|SYNE1_ENST00000265368.4_Silent_p.L5493L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5493					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGGCTTACCCAGTTGGCCAT	0.448000										HNSCC(10;0.0054)			25	76					5.61819e-17	8.67403e-17	1	1	0
GUCD1	83606	broad.mit.edu	37	22	24943883	24943883	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:24943883T>C	ENST00000435822.1	-	3	611	c.287A>G	c.(286-288)aAg>aGg	p.K96R	GUCD1_ENST00000404664.3_Missense_Mutation_p.K152R|GUCD1_ENST00000407471.3_Missense_Mutation_p.K96R|GUCD1_ENST00000447813.2_Missense_Mutation_p.K96R|GUCD1_ENST00000490922.1_5'UTR|GUCD1_ENST00000402766.1_Missense_Mutation_p.K96R	NM_031444.2	NP_113632.2			guanylyl cyclase domain containing 1																		CACCTGGTTCTTGTAGCCCTT	0.592000													21	54					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92508721	92508721	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:92508721G>C	ENST00000371721.3	-	2	1412	c.1170C>G	c.(1168-1170)gaC>gaG	p.D390E	HTR7_ENST00000336152.3_Missense_Mutation_p.D390E|HTR7_ENST00000277874.6_Missense_Mutation_p.D390E|HTR7_ENST00000371719.2_Missense_Mutation_p.D390E			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	390					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TGGTCCTCAGGTCCCGGTTGA	0.532000													50	180					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103363709	103363709	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:103363709G>C	ENST00000358392.2	-	57	4627	c.4310C>G	c.(4309-4311)gCa>gGa	p.A1437G	COL11A1_ENST00000353414.4_Missense_Mutation_p.A1386G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A1309G|COL11A1_ENST00000370096.3_Missense_Mutation_p.A1425G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1425	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)		ATCTTGGCCTGCAGCTCCAGG	0.279000													3	6					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175728	51175728	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:51175728G>T	ENST00000440970.1	-	2	545	c.114C>A	c.(112-114)agC>agA	p.S38R	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S135R|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	135					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCCGCTGCCGCTTTTGTTAG	0.607000													32	39					3.1745e-13	4.51945e-13	1	1	0
ZNF184	7738	broad.mit.edu	37	6	27420077	27420077	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:27420077T>G	ENST00000211936.6	-	6	1545	c.1261A>C	c.(1261-1263)Aat>Cat	p.N421H	ZNF184_ENST00000377419.1_Missense_Mutation_p.N421H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCACATTCATTGCATTCGTAC	0.413000													24	50					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25474171	25474171	+	RNA	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:25474171G>C	ENST00000453082.2	+	0	1370				SNORD115-32_ENST00000364079.1_RNA	NR_003343.1																						TAAAAATCATGTTCAATAGGA	0.493000													56	218					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107114180	107114180	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:107114180C>A	ENST00000454421.2	-	0	94																											AAACCCAGCTCAGCCCAAACT	0.478000													36	148					1.30998e-17	2.03627e-17	1	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213414047	213414047	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:213414047G>T	ENST00000366960.3	+	11	1378	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G113C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G398C|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G198C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	410	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.G410S(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCACAGGTGGCAAACTGTG	0.308000													22	77					1.87028e-06	2.1944e-06	1	1	0
HTR1D	3352	broad.mit.edu	37	1	23519781	23519781	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:23519781A>T	ENST00000374619.1	-	1	1441	c.932T>A	c.(931-933)aTc>aAc	p.I311N	HTR1D_ENST00000314113.3_Missense_Mutation_p.I311N	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	311					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCAGCAGATGATAAAGGCCCC	0.547000													25	89					0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27661903	27661903	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:27661903C>T	ENST00000374076.4	+	6	611	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	191						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGCTGCCCTTCATCCTTCTCC	0.642000													18	101					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66509102	66509102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:66509102C>T	ENST00000273854.3	-	2	825	c.225G>A	c.(223-225)tgG>tgA	p.W75*	EPHA5_ENST00000432638.2_Nonsense_Mutation_p.W75*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.W75*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.W75*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	75					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAAAAGCAATCCATCCCAGGT	0.333000										TSP Lung(17;0.13)			5	36					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811368	23811368	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23811368G>T	ENST00000314520.3	+	1	915	c.439G>T	c.(439-441)Gcg>Tcg	p.A147S	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	147						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TAGCACGGCTGCGCACATCGA	0.637000													10	39					7.48243e-07	8.90487e-07	1	1	0
TFPT	29844	broad.mit.edu	37	19	54611361	54611361	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:54611361G>C	ENST00000391759.1	-	5	1019	c.614C>G	c.(613-615)gCg>gGg	p.A205G	NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391757.1_Missense_Mutation_p.R193G|TFPT_ENST00000391758.1_Missense_Mutation_p.A196G	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	205					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TGGAGTCAGCGCATTTCCTGC	0.711000			T	TCF3	pre-B ALL								19	86					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881280	228881280	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:228881280C>G	ENST00000392056.3	-	7	4336	c.4290G>C	c.(4288-4290)caG>caC	p.Q1430H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q1430H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1430						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGTTTCAATCTGAATCAAAG	0.468000													22	61					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945972	53945972	+	RNA	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53945972G>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CGGGAAGGCTGCTTTCTCCTT	0.572000													17	21					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12966186	12966186	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:12966186G>A	ENST00000273221.4	-	4	1883	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	556	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCCCGACGGGCGTGTCGGG	0.652000													17	45					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417051	54417051	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:54417051C>A	ENST00000245451.4	-	4	1319	c.926G>T	c.(925-927)cGg>cTg	p.R309L	BMP4_ENST00000559087.1_Missense_Mutation_p.R309L|BMP4_ENST00000558984.1_Missense_Mutation_p.R309L|BMP4_ENST00000417573.1_Missense_Mutation_p.R309L	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	309					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CGAGTGGCGCCGGCAGTTCTT	0.627000													16	54					1.52009e-12	2.12766e-12	1	1	0
ZFAT	57623	broad.mit.edu	37	8	135622730	135622730	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:135622730G>A	ENST00000520727.1	-	5	880	c.581C>T	c.(580-582)gCa>gTa	p.A194V	ZFAT_ENST00000520214.1_Missense_Mutation_p.A194V|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520356.1_Missense_Mutation_p.A194V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A194V|ZFAT_ENST00000377838.3_Missense_Mutation_p.A206V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTTCGTGTGCAGTTAAAAC	0.512000													8	60					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123839068	123839068	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:123839068A>G	ENST00000422452.2	-	5	873	c.810T>C	c.(808-810)tcT>tcC	p.S270S	TENM1_ENST00000371130.3_Silent_p.S270S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGAAGATCGCAGAGGAACCAG	0.493000													45	85					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41565564	41565564	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:41565564G>T	ENST00000263253.7	+	26	5449	c.4230G>T	c.(4228-4230)agG>agT	p.R1410S	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1410					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATGCTTGAGGACTGCAGTCT	0.328000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	29					7.03913e-09	8.93578e-09	1	1	0
KRT75	9119	broad.mit.edu	37	12	52825337	52825337	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:52825337A>G	ENST00000252245.5	-	4	1080	c.860T>C	c.(859-861)gTc>gCc	p.V287A		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	287	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGCATCAAAGACTGAGTGGAT	0.478000													19	65					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150373	70150373	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70150373G>T	ENST00000550536.1	+	3	945	c.488G>T	c.(487-489)aGc>aTc	p.S163I	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S147I|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S147I|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S163I|RAB3IP_ENST00000247833.7_Missense_Mutation_p.S147I	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	163					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CGTTTACGAAGCCCATCTGTT	0.398000													25	104					9.57634e-11	1.27221e-10	1	1	0
SGMS1-AS1	104355295	broad.mit.edu	37	10	52389345	52389345	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:52389345C>A	ENST00000443374.1	+	0	38																											AGCAGTGGTGCCCTCGGGTTC	0.488000													12	36					3.07112e-06	3.55317e-06	1	1	0
CEP290	80184	broad.mit.edu	37	12	88478512	88478512	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:88478512T>C	ENST00000552810.1	-	35	4898	c.4555A>G	c.(4555-4557)Ata>Gta	p.I1519V	CEP290_ENST00000397838.3_Missense_Mutation_p.I579V|CEP290_ENST00000309041.7_Missense_Mutation_p.I1521V|CEP290_ENST00000547691.2_Missense_Mutation_p.I579V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1519					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTCAGCTATGAGCTTTTCT	0.388000													7	47					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118845052	118845052	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:118845052G>A	ENST00000368491.3	-	4	1673	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	CEP85L_ENST00000392500.3_Missense_Mutation_p.S354L|CEP85L_ENST00000419517.2_Missense_Mutation_p.S351L|CEP85L_ENST00000368488.5_Missense_Mutation_p.S354L|CEP85L_ENST00000360290.3_Missense_Mutation_p.S249L	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	351						centrosome											ATAGCCAGGTGAATAACTTTG	0.299000													10	51					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27149906	27149906	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:27149906C>A	ENST00000396352.4	-	2	553	c.354G>T	c.(352-354)gcG>gcT	p.A118A	HOXA3_ENST00000317201.2_Silent_p.A118A|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	118	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						gaggcgggggcgcggcagggg	0.736000													7	23					0.00198382	0.00209136	1	1	0
PPP6R3	55291	broad.mit.edu	37	11	68341629	68341629	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:68341629A>G	ENST00000393799.2	+	13	1663	c.1396A>G	c.(1396-1398)Aac>Gac	p.N466D	PPP6R3_ENST00000529710.1_Missense_Mutation_p.N415D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N466D|PPP6R3_ENST00000393800.2_Missense_Mutation_p.N466D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N466D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N415D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N466D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N466D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N466D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N234D			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	466					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAGGATAGCTAACTGTATCGT	0.438000													17	126					0	0	1	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744289	31744289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:31744289G>T	ENST00000399889.2	-	1	268	c.243C>A	c.(241-243)taC>taA	p.Y81*		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	81	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TTCTGGGGCGGTAGCAGGAGG	0.602000													23	54					4.26978e-12	5.88624e-12	1	1	0
CLN3	1201	broad.mit.edu	37	16	28502858	28502858	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:28502858G>T	ENST00000569430.1	-	4	889	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	CLN3_ENST00000357076.5_Silent_p.R24R|CLN3_ENST00000359984.7_Silent_p.R24R|CLN3_ENST00000355477.5_Silent_p.R24R|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000360019.2_Silent_p.R24R|CLN3_ENST00000357857.9_Intron|CLN3_ENST00000567963.1_Silent_p.R24R|CLN3_ENST00000357806.7_Silent_p.R24R|CLN3_ENST00000354630.5_Silent_p.R24R|CLN3_ENST00000333496.9_Silent_p.R24R|CLN3_ENST00000565316.1_Silent_p.R24R|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000395653.4_Intron			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	24					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AGAGGGAGCCGGGGCTCCGGG	0.647000											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	24					3.59834e-05	4.03049e-05	1	1	0
EPHA6	285220	broad.mit.edu	37	3	97251359	97251359	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:97251359C>G	ENST00000389672.5	+	11	2396	c.2358C>G	c.(2356-2358)atC>atG	p.I786M	EPHA6_ENST00000502694.1_Missense_Mutation_p.I178M|EPHA6_ENST00000514100.1_Missense_Mutation_p.I178M|EPHA6_ENST00000442602.2_Missense_Mutation_p.I152M	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	691	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCCAAACATCATTCGCCTAG	0.383000													11	35					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109023458	109023458	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:109023458G>C	ENST00000478945.1	-	7	964	c.718C>G	c.(718-720)Cgc>Ggc	p.R240G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	240						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACTGCAGGCGTACCCAACCC	0.502000													21	66					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350537	50350537	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:50350537G>T	ENST00000376020.2	-	6	3630	c.3605C>A	c.(3604-3606)cCa>cAa	p.P1202Q	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P1086Q|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P1202Q	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1202					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTGCTCTGCTGGGACACTTTG	0.552000													15	37					0.00400662	0.00418521	1	1	0
CSDE1	7812	broad.mit.edu	37	1	115268984	115268984	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:115268984T>C	ENST00000438362.2	-	14	2004	c.1626A>G	c.(1624-1626)aaA>aaG	p.K542K	CSDE1_ENST00000358528.4_Silent_p.K496K|CSDE1_ENST00000534699.1_Silent_p.K496K|CSDE1_ENST00000530886.1_Silent_p.K366K|CSDE1_ENST00000339438.6_Silent_p.K465K|CSDE1_ENST00000261443.5_Silent_p.K465K|CSDE1_ENST00000369530.1_Silent_p.K511K	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	496	CSD 7.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CAGGCCTCTGTTTGTCACTAA	0.403000													15	35					0	0	1	0	0
JAZF1	221895	broad.mit.edu	37	7	28031598	28031598	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:28031598T>A	ENST00000283928.5	-	2	283	c.118A>T	c.(118-120)Aca>Tca	p.T40S		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	40					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGTGGATCTGTATCTGTAATA	0.323000			T	SUZ12	endometrial stromal tumours								11	50					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155503974	155503974	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:155503974G>A	ENST00000401878.3	+	8	1224	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	342	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCCGCTGCAGCCGCTGCTTC	0.667000													21	53					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133976814	133976814	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:133976814G>C	ENST00000298622.4	+	19	2454	c.2316G>C	c.(2314-2316)aaG>aaC	p.K772N	JAKMIP3_ENST00000477275.1_3'UTR	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)		AGAAGCTCAAGGTGGCCGTGG	0.652000													7	18					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769579	57769579	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57769579A>G	ENST00000371030.2	+	1	3505	c.3505A>G	c.(3505-3507)Agc>Ggc	p.S1169G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1169						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGTCCCCACAGCACCCAAAA	0.672000													31	90					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724166	38724166	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:38724166C>A	ENST00000342213.2	-	1	1408	c.1062G>T	c.(1060-1062)acG>acT	p.T354T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	354						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGGTAGACATCGTGCTCTGTG	0.493000													15	68					8.60227e-14	1.25e-13	1	1	0
ZNF701	55762	broad.mit.edu	37	19	53086180	53086180	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53086180G>T	ENST00000540331.1	+	5	1291	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.A290S|ZNF701_ENST00000301093.2_Missense_Mutation_p.A356S	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGTTCACAAGGCAATTCATAC	0.408000													9	43					5.16669e-11	6.93444e-11	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73717083	73717083	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:73717083A>T	ENST00000264448.6	+	10	8105	c.7994A>T	c.(7993-7995)aAa>aTa	p.K2665I	ALMS1_ENST00000409009.1_Missense_Mutation_p.K2623I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2665					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAATCAGCAAAGGTCTTCGA	0.383000													35	137					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123554210	123554210	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:123554210C>A	ENST00000422452.2	-	25	4996	c.4933G>T	c.(4933-4935)Ggg>Tgg	p.G1645W	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G1638W	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCCAGAAGCCCTGTGTTTCCT	0.413000													15	67					3.32936e-07	4.00399e-07	1	1	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168226472	168226472	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:168226472G>T	ENST00000359760.5	-	0	917					NR_027906.1																						AGCAGCCCCGGGGCAATGCGC	0.657000													13	45					5.50884e-06	6.29385e-06	1	1	0
MASP2	10747	broad.mit.edu	37	1	11106734	11106734	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:11106734C>A	ENST00000400897.3	-	3	306	c.291G>T	c.(289-291)acG>acT	p.T97T	MASP2_ENST00000400898.3_Silent_p.T97T	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	97	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGGCCCGCTCCGTGTCTGTGC	0.647000													8	34					2.74318e-10	3.59207e-10	1	1	0
AGXT	189	broad.mit.edu	37	2	241810830	241810830	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:241810830T>A	ENST00000307503.3	+	4	875	c.488T>A	c.(487-489)cTg>cAg	p.L163Q		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	163					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCGGCGTGCTGCAGCCCCTT	0.667000													5	13					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635400	83635400	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:83635400C>A	ENST00000404547.1	+	1	304	c.304C>A	c.(304-306)Cta>Ata	p.L102I	NRG3_ENST00000372141.2_Missense_Mutation_p.L102I			P56975	NRG3_HUMAN	neuregulin 3	102					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCCCACCGACCTAGTGGACTC	0.602000													12	41					0.0167234	0.0171358	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78322355	78322355	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:78322355C>A	ENST00000255189.3	-	13	2110	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	DMGDH_ENST00000540686.1_Silent_p.L314L|DMGDH_ENST00000380311.4_Silent_p.L493L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	694					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TAGCGTCATACAGCGCCACAG	0.507000													16	44					2.23348e-06	2.60716e-06	1	1	0
CRB1	23418	broad.mit.edu	37	1	197390578	197390578	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:197390578C>A	ENST00000367400.3	+	6	1755	c.1620C>A	c.(1618-1620)ggC>ggA	p.G540G	CRB1_ENST00000544212.1_Silent_p.G21G|CRB1_ENST00000367399.2_Silent_p.G428G|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.G471G|CRB1_ENST00000538660.1_Silent_p.G540G|CRB1_ENST00000543483.1_Silent_p.G239G	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	540	Laminin G-like 1.				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						TGCTAAGTGGCTACATTCACT	0.443000													12	74					0.00316338	0.00330816	1	1	0
JUND	3727	broad.mit.edu	37	19	18391494	18391494	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:18391494C>A	ENST00000252818.3	-	1	938	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	267					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						CCTTGATGCGCTCCTGCGTGT	0.682000													10	15					6.72482e-11	8.9599e-11	1	1	0
BIRC8	112401	broad.mit.edu	37	19	53793392	53793392	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53793392T>C	ENST00000426466.1	-	1	1483	c.236A>G	c.(235-237)aAc>aGc	p.N79S		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	79					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		ATGAATGTTGTTTATATATTC	0.408000													26	85					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043865	119043865	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:119043865G>T	ENST00000334464.5	-	5	2618	c.2379C>A	c.(2377-2379)ttC>ttA	p.F793L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	793					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)		TCAAATATTTGAAGTGAATAG	0.378000													11	35					6.40141e-05	7.09199e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179442524	179442524	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179442524T>A	ENST00000589042.1	-	323	68853	c.68629A>T	c.(68629-68631)Ata>Tta	p.I22877L	TTN_ENST00000359218.5_Missense_Mutation_p.I13937L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I20309L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I14004L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I21236L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I13812L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21236							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)			TTCTCCACTATATATCCAGTT	0.418000													15	51					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800270	27800270	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:27800270G>A	ENST00000408964.2	+	1	882	c.831G>A	c.(829-831)atG>atA	p.M277I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	277										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGAAGCTATGGGGTTGACCG	0.463000													22	106					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40713419	40713419	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:40713419G>A	ENST00000373198.3	-	30	4340	c.4105C>T	c.(4105-4107)Ccc>Tcc	p.P1369S	PTPRT_ENST00000373184.1_Missense_Mutation_p.P1357S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1350S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1356S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1346S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P1337S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P1347S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1347	Tyrosine-protein phosphatase 2.				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)				TTGGAGGGGGGCGTGTCCCGG	0.592000													4	42					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61830159	61830159	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:61830159C>A	ENST00000225726.5	-	10	1417	c.1034_splice	c.e10-1	p.E345_splice	CCDC47_ENST00000582252.1_Splice_Site_p.E345_splice|CCDC47_ENST00000403162.3_Splice_Site_p.E345_splice	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	345						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GCTGACCTTCCCTGTCATAAA	0.383000											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	18	50					1.56452e-12	2.18317e-12	1	1	0
UNC79	57578	broad.mit.edu	37	14	94071303	94071303	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:94071303G>T	ENST00000553484.1	+	27	3970	c.3816G>T	c.(3814-3816)acG>acT	p.T1272T	UNC79_ENST00000393151.2_Intron|UNC79_ENST00000256339.4_Intron|UNC79_ENST00000555664.1_Intron			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1252						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						CCGAACAGACGCCAGGTGGGT	0.473000													4	18					0.014758	0.0151389	1	1	0
PHACTR4	65979	broad.mit.edu	37	1	28817491	28817491	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:28817491A>G	ENST00000373839.3	+	11	2106	c.1845A>G	c.(1843-1845)gaA>gaG	p.E615E	PHACTR4_ENST00000373836.3_Silent_p.E625E|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	615							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGGCAGAAAAACGAGAAA	0.353000													13	32					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420407	53420407	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:53420407G>A	ENST00000377942.3	-	1	2368	c.2165C>T	c.(2164-2166)gCc>gTc	p.A722V	PCDH8_ENST00000338862.4_Missense_Mutation_p.A722V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	722	Cadherin 6.				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)		TCCTGCACTGGCAGGCGCAGC	0.701000													6	16					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2054184	2054184	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:2054184G>T	ENST00000262113.4	+	22	3028	c.2887G>T	c.(2887-2889)Gat>Tat	p.D963Y	MYOM2_ENST00000523438.1_Missense_Mutation_p.D388Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	963	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AACCGTGGGGGATCAGTAAGT	0.448000													17	45					6.49762e-13	9.12262e-13	1	1	0
KARS	3735	broad.mit.edu	37	16	75665647	75665647	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:75665647T>A	ENST00000319410.5	-	9	1227	c.1106A>T	c.(1105-1107)tAc>tTc	p.Y369F	KARS_ENST00000302445.3_Missense_Mutation_p.Y341F|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	341					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATAGGCCATGTAGAACTCACA	0.498000													48	166					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	708987	708987	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:708987G>T	ENST00000549091.1	+	24	3079	c.2987G>T	c.(2986-2988)tGg>tTg	p.W996L	WDR90_ENST00000293879.4_Missense_Mutation_p.W996L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	996										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCTTCCTCTGGGATGTCCTG	0.642000													25	93					3.28513e-13	4.66243e-13	1	1	0
POTEC	388468	broad.mit.edu	37	18	14542630	14542630	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:14542630T>C	ENST00000358970.5	-	1	515	c.516A>G	c.(514-516)caA>caG	p.Q172Q	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	172										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTTACCTCTTTTGCTTGTCCC	0.592000													38	116					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36019126	36019126	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36019126A>T	ENST00000452271.2	-	1	86	c.58T>A	c.(58-60)Tct>Act	p.S20T	SBSN_ENST00000518157.1_Missense_Mutation_p.S20T	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	20						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCCATCCAGACAGGGCCCCC	0.602000													20	75					0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53347986	53347986	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:53347986A>G	ENST00000395631.2	-	5	944	c.728T>C	c.(727-729)cTt>cCt	p.L243P	FERMT2_ENST00000399304.3_Missense_Mutation_p.L243P|FERMT2_ENST00000341590.3_Missense_Mutation_p.L243P|FERMT2_ENST00000553373.1_Missense_Mutation_p.L243P|FERMT2_ENST00000343279.4_Missense_Mutation_p.L243P			Q96AC1	FERM2_HUMAN	fermitin family member 2	243	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TGCTTTATCAAGAAGAGCTTG	0.373000													31	158					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145639732	145639732	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:145639732C>A	ENST00000276833.5	-	5	1291	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	SLC39A4_ENST00000301305.3_Missense_Mutation_p.G355W	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	355			G -> D (in AEZ).			cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGGGTGACCCCCCTGCAGCCA	0.652000													9	25					1.12685e-05	1.27784e-05	1	1	0
MAG	4099	broad.mit.edu	37	19	35804288	35804288	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:35804288A>G	ENST00000392213.3	+	11	1971	c.1812A>G	c.(1810-1812)aaA>aaG	p.K604K	MAG_ENST00000537831.2_Silent_p.K579K|MAG_ENST00000361922.4_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	604					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCTGGGGAAACGGCCCACCA	0.632000													26	59					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46574115	46574115	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:46574115C>T	ENST00000263734.3	+	2	640	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	44	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGCCTCTGCCCCACAGTGT	0.612000													29	107					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49813424	49813424	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:49813424C>A	ENST00000454748.3	-	4	775		c.e4-1		SLC6A16_ENST00000335875.4_Splice_Site			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16							integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGAAGCACACCTGGGGGCCAA	0.532000													15	27					0.00244969	0.00257952	1	1	0
FSHR	2492	broad.mit.edu	37	2	49190545	49190545	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:49190545G>C	ENST00000406846.2	-	10	1534	c.1415C>G	c.(1414-1416)aCg>aGg	p.T472R	FSHR_ENST00000541117.1_Missense_Mutation_p.T208R|FSHR_ENST00000304421.4_Missense_Mutation_p.T446R|FSHR_ENST00000346173.3_Missense_Mutation_p.T410R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	472					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.T472K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CATGGCATGCGTGATGGTATG	0.542000									Gonadal Dysgenesis, 46 XX				7	31					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873986	21873986	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:21873986T>C	ENST00000399982.2	-	14	3009	c.2945A>G	c.(2944-2946)aAt>aGt	p.N982S	CHD8_ENST00000557364.1_Missense_Mutation_p.N982S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.N703S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	982	Helicase ATP-binding.				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)		TTCTACAGTATTTTGCAATGG	0.393000													71	87					0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27235198	27235198	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:27235198T>A	ENST00000429849.2	-	1	249	c.219A>T	c.(217-219)caA>caT	p.Q73H		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	73										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAATTTGGTCTTGTCTCTTCA	0.517000													6	27					0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108954331	108954331	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:108954331G>A	ENST00000505878.1	+	8	994		c.e8-1		HADH_ENST00000603302.1_Splice_Site|HADH_ENST00000510728.1_Splice_Site|HADH_ENST00000309522.3_Splice_Site|HADH_ENST00000403312.1_Splice_Site|HADH_ENST00000454409.2_Splice_Site			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase						fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	TTTCTCCTTAGGTGACGCATC	0.458000													14	57					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161117215	161117215	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:161117215G>T	ENST00000523217.1	+	7	894	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F	GABRA6_ENST00000274545.5_Missense_Mutation_p.V228F	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	228					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V228I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGTGAATACGTTATAATGAC	0.358000										TCGA Ovarian(5;0.080)			7	44					2.0095e-06	2.3487e-06	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766541	57766541	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57766541C>A	ENST00000371030.2	+	1	467	c.467C>A	c.(466-468)cCc>cAc	p.P156H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	156						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCTGAAGCCCAGTGTTCTA	0.642000													54	149					8.52529e-16	1.28795e-15	1	1	0
FAT4	79633	broad.mit.edu	37	4	126241236	126241236	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:126241236G>T	ENST00000394329.3	+	1	3683	c.3670G>T	c.(3670-3672)Gcc>Tcc	p.A1224S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1224	Cadherin 12.				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						AGAATCAGCAGCCAATCTGAC	0.338000													11	24					4.68919e-08	5.80748e-08	1	1	0
FAM86HP	729375	broad.mit.edu	37	3	129824423	129824423	+	RNA	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:129824423C>G	ENST00000500074.2	-	0	206																											ATCAGGGTCTCTGCCAGCGCC	0.582000													16	28					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73159872	73159872	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:73159872A>T	ENST00000541685.1	-	7	666	c.654T>A	c.(652-654)gcT>gcA	p.A218A	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Silent_p.A228A|DPF3_ENST00000556509.1_Silent_p.A218A	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	218					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGTGAGTGTGAGCATAGTGGT	0.537000													63	78					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794111	13794111	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:13794111C>T	ENST00000265104.4	-	48	8048	c.7944G>A	c.(7942-7944)gcG>gcA	p.A2648A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2648	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTCTTTCCCGCAGGAGGGC	0.368000									Kartagener syndrome				18	72					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355209	70355209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:70355209G>T	ENST00000305107.6	-	3	996	c.950C>A	c.(949-951)tCa>tAa	p.S317*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.S181*|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.S317*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	317					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTTCTTCTGATGTGTTACT	0.398000													23	112					1.5548e-18	2.44593e-18	1	1	0
MEF2B	100271849	broad.mit.edu	37	19	19257421	19257421	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:19257421T>C	ENST00000602424.2	-	9	1438	c.712A>G	c.(712-714)Act>Gct	p.T238A	MEF2B_ENST00000410050.1_Missense_Mutation_p.T238A|MEF2B_ENST00000409447.2_Missense_Mutation_p.H193R|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.T255A|MEF2B_ENST00000424583.2_Missense_Mutation_p.T238A|MEF2B_ENST00000409224.1_Missense_Mutation_p.T241A|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.T238A|MEF2B_ENST00000162023.5_Missense_Mutation_p.T238A	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGAGTTGCAGTGGAGCAGGGG	0.672000													7	17					0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48141467	48141467	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:48141467G>T	ENST00000331803.4	+	6	832	c.209G>T	c.(208-210)aGg>aTg	p.R70M	UPP1_ENST00000395564.4_Missense_Mutation_p.R70M|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R70M|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	70					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						GCCTTCATCAGGTGCGTTGGT	0.547000													26	73					3.17567e-06	3.66948e-06	1	1	0
SLC22A14	9389	broad.mit.edu	37	3	38350472	38350472	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:38350472G>A	ENST00000273173.4	+	4	894	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R268Q	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	268						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GGTGAGCACCGGGCCCATGCC	0.592000													43	124					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135764128	135764128	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:135764128C>A	ENST00000250617.6	-	14	2685		c.e14-1		ARHGEF6_ENST00000370622.1_Splice_Site|ARHGEF6_ENST00000535227.1_Splice_Site|ARHGEF6_ENST00000370620.1_Splice_Site	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6						apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTATTTTTCCCTATTAGAAAA	0.358000													20	33					4.96729e-08	6.13527e-08	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503803	140503803	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140503803C>T	ENST00000194152.1	+	1	2223	c.2223C>T	c.(2221-2223)acC>acT	p.T741T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		741					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGCGGCACCGGGACCCTGT	0.622000													54	139					0	0	1	0	0
ZNF271P	10778	broad.mit.edu	37	18	32886941	32886941	+	RNA	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:32886941G>C	ENST00000399070.3	+	0	1335					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						GCAATAAAATGTTTAGTCGAA	0.373000													19	39					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39635232	39635232	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:39635232G>T	ENST00000246639.2	-	4	769	c.637C>A	c.(637-639)Cgc>Agc	p.R213S	KRT35_ENST00000393989.1_Missense_Mutation_p.R243S			Q92764	KRT35_HUMAN	keratin 35	243	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGTTGGCAGCGCAGTGAGTTC	0.552000													15	43					1.05317e-09	1.36152e-09	1	1	0
WDR54	84058	broad.mit.edu	37	2	74649491	74649491	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:74649491C>G	ENST00000348227.4	+	2	299	c.211C>G	c.(211-213)Ctt>Gtt	p.L71V	WDR54_ENST00000461531.1_Intron|WDR54_ENST00000409791.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	71										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GAGTCCCCCACTTATCACTCA	0.597000													7	22					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718335	142718335	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142718335C>A	ENST00000381779.4	-	2	815	c.590G>T	c.(589-591)gGg>gTg	p.G197V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G197V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G197V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	197						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAACCCCGATATAAGG	0.438000													24	71					5.35356e-11	7.1642e-11	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24921354	24921354	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:24921354G>C	ENST00000329468.2	+	1	814	c.340G>C	c.(340-342)Gta>Cta	p.V114L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.V114I(1)									CCCCAGTTCCGTAAGGATCCC	0.657000													16	56					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881665	228881665	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:228881665G>T	ENST00000392056.3	-	7	3951	c.3905C>A	c.(3904-3906)aCc>aAc	p.T1302N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1302N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1302						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAACATGTTGGTGATGTGGTC	0.502000													20	61					8.34094e-07	9.86237e-07	1	1	0
BHMT	635	broad.mit.edu	37	5	78426858	78426858	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:78426858C>A	ENST00000274353.5	+	8	1247	c.1140C>A	c.(1138-1140)gcC>gcA	p.A380A	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Silent_p.A227A	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	380					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AAGGAACAGCCGAGCTGATGC	0.478000													36	147					4.0492e-12	5.59904e-12	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140595647	140595647	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140595647C>T	ENST00000341948.4	+	1	2139	c.1952C>T	c.(1951-1953)cCg>cTg	p.P651L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		651	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCGCGCTCGGCC	0.726000													13	64					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54902239	54902239	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:54902239C>T	ENST00000293373.6	+	5	509	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L94F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	144					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGTCATTTTACTTCTGTCACG	0.433000													49	149					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173228	126173228	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:126173228G>T	ENST00000339582.2	-	9	3016	c.2208C>A	c.(2206-2208)gcC>gcA	p.A736A	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.A736A|GRM8_ENST00000444921.2_Silent_p.A736A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	736					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCACTCCCCTGGCCTTCTCTG	0.468000										HNSCC(24;0.065)			7	24					8.12818e-05	8.96159e-05	1	1	0
ACE2	59272	broad.mit.edu	37	X	15603612	15603612	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:15603612C>T	ENST00000427411.1	-	8	1102	c.886G>A	c.(886-888)Gca>Aca	p.A296T	ACE2_ENST00000252519.3_Missense_Mutation_p.A296T	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	296					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCCACCATTGCATCAGTAACA	0.318000													23	58					0	0	1	0	0
GYG1	2992	broad.mit.edu	37	3	148714191	148714191	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:148714191C>A	ENST00000345003.4	+	3	546	c.246C>A	c.(244-246)gtC>gtA	p.V82V	GYG1_ENST00000484197.1_Silent_p.V82V|GYG1_ENST00000296048.6_Silent_p.V82V|GYG1_ENST00000483267.1_Silent_p.V82V	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	82					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGTTGGGTGTCACGCTGACAA	0.443000													28	99					3.73148e-12	5.16753e-12	1	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291252	141291252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:141291252G>T	ENST00000247452.3	-	3	869	c.522C>A	c.(520-522)taC>taA	p.Y174*		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	174	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)					AGTAATCTTTGTACTTGATGA	0.478000										HNSCC(46;0.14)			43	149					4.44401e-20	7.16372e-20	1	1	0
PLCXD3	345557	broad.mit.edu	37	5	41313828	41313828	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:41313828C>G	ENST00000377801.3	-	3	931	c.857G>C	c.(856-858)gGa>gCa	p.G286A	PLCXD3_ENST00000328457.3_Missense_Mutation_p.G286A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	286					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCACTCTCTCCTGGCTTCTG	0.438000													9	47					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132649	15132649	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:15132649C>T	ENST00000292574.3	+	6	1251	c.1169C>T	c.(1168-1170)gCa>gTa	p.A390V		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	390					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGGAGACCGCAGAAAAGCTG	0.652000													28	85					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541504	55541504	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55541504C>A	ENST00000361760.1	+	1	591	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CCTATATCAGCCAGAGGCTAT	0.358000													20	77					1.22574e-08	1.54741e-08	1	1	0
DPP10	57628	broad.mit.edu	37	2	116599822	116599822	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:116599822G>C	ENST00000410059.1	+	26	2772	c.2292G>C	c.(2290-2292)aaG>aaC	p.K764N	DPP10_ENST00000409163.1_Missense_Mutation_p.K714N|DPP10_ENST00000310323.8_Missense_Mutation_p.K757N|DPP10_ENST00000393147.2_Missense_Mutation_p.K768N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	764					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TATCTGAGAAGAGCAAGTATC	0.368000													6	27					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30105519	30105519	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:30105519G>T	ENST00000331968.5	-	7	1396	c.1167C>A	c.(1165-1167)caC>caA	p.H389Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.H397Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	389					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGCGTCCTCGTGGTCTGGGT	0.507000													46	242					8.44121e-28	1.39517e-27	1	1	0
VCPIP1	80124	broad.mit.edu	37	8	67546742	67546742	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:67546742G>A	ENST00000310421.4	-	3	3921	c.3663C>T	c.(3661-3663)caC>caT	p.H1221H		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1221					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAAATCAAGAGTGATCCATTG	0.388000													37	61					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870370	237870370	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:237870370C>G	ENST00000366574.2	+	68	10019	c.9702C>G	c.(9700-9702)gtC>gtG	p.V3234V	RYR2_ENST00000542537.1_Silent_p.V3218V|RYR2_ENST00000360064.6_Silent_p.V3232V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3234					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCCACATGTCATGGAAGTCA	0.502000													20	76					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641807	57641807	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:57641807T>A	ENST00000254181.4	+	4	2218	c.1764T>A	c.(1762-1764)agT>agA	p.S588R	USP29_ENST00000598197.1_Missense_Mutation_p.S588R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	588					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAATCCAGTGATTCCCTGG	0.488000													14	63					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847811	123847811	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:123847811G>T	ENST00000531945.1	-	1	677	c.588C>A	c.(586-588)ccC>ccA	p.P196P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTAGGACAGGGGGTATGTCGC	0.567000													16	41					7.81268e-19	1.23757e-18	1	1	0
MICALL2	79778	broad.mit.edu	37	7	1478575	1478575	+	Missense_Mutation	SNP	C	C	T	rs142157538	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:1478575C>T	ENST00000297508.7	-	10	2198	c.2023G>A	c.(2023-2025)Gtt>Att	p.V675I	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.V463I	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	675						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTGTCACAAACGTCGAGGCTG	0.677000													18	43					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221608	55221608	+	RNA	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55221608A>T	ENST00000413439.1	+	0	1388																											GTCGGCCCCCAGTGACCCCCT	0.667000													6	56					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185329416	185329416	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:185329416T>A	ENST00000393593.3	-	6	632	c.425A>T	c.(424-426)gAg>gTg	p.E142V	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	142					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGAGATGACTCAACTGGTTC	0.413000													16	71					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52216930	52216930	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:52216930A>G	ENST00000540069.2	-	5	1544	c.1484T>C	c.(1483-1485)cTg>cCg	p.L495P	HAS1_ENST00000601714.1_Missense_Mutation_p.L503P|HAS1_ENST00000222115.1_Missense_Mutation_p.L496P			Q92839	HAS1_HUMAN	hyaluronan synthase 1	496					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTTAGCGGCCAGCTTCCGCCG	0.687000													3	6					0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3768876	3768876	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:3768876C>T	ENST00000330055.5	+	1	752	c.543C>T	c.(541-543)gtC>gtT	p.V181V	ADRA2C_ENST00000509482.1_Silent_p.V181V	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	181					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCTCGGCCGTCATCTCCTTCC	0.672000													9	28					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71114261	71114261	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:71114261A>T	ENST00000396396.1	+	10	1827	c.1598A>T	c.(1597-1599)cAt>cTt	p.H533L		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	533					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCCAGCGGCCATGACCAGGAG	0.587000													20	33					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133368380	133368380	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:133368380C>T	ENST00000260810.5	-	10	1482	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	451					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACTGGAATTTCCACTGGCTGG	0.393000								Other conserved DNA damage response genes					40	77					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190924	6190924	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:6190924C>A	ENST00000530810.1	-	1	714	c.633G>T	c.(631-633)ttG>ttT	p.L211F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATAACATCCAAGATGACCA	0.507000													10	31					0.000442599	0.000478175	1	1	0
TTN	7273	broad.mit.edu	37	2	179436938	179436938	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179436938C>T	ENST00000589042.1	-	326	74145	c.73921G>A	c.(73921-73923)Gag>Aag	p.E24641K	TTN_ENST00000359218.5_Missense_Mutation_p.E15701K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22073K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15768K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23000K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E15576K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23000	Ig-like 122.						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)			CCATCATGCTCTGGTTTCTCC	0.483000													11	33					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287443	130287443	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:130287443G>T	ENST00000358511.6	+	5	2427	c.2396G>T	c.(2395-2397)cGt>cTt	p.R799L	COL6A6_ENST00000453409.2_Missense_Mutation_p.R799L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	799	Nonhelical 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						TGCAGCCCCCGTGAAGGTAGG	0.403000													20	37					1.28384e-07	1.56249e-07	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151821293	151821293	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:151821293G>T	ENST00000370306.2	+	9	1468	c.1448G>T	c.(1447-1449)cGc>cTc	p.R483L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	483						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGAAATCCGCAACCGTGTC	0.557000													38	167					1.30998e-17	2.03627e-17	1	1	0
LENG8	114823	broad.mit.edu	37	19	54968077	54968077	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:54968077C>T	ENST00000326764.5	+	11	2187	c.1708C>T	c.(1708-1710)Ccg>Tcg	p.P570S	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	533							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCCCCCGACCCGTCCACCGT	0.667000													10	30					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863245	154863245	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:154863245G>T	ENST00000287907.2	+	1	1212	c.636G>T	c.(634-636)ccG>ccT	p.P212P	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	212						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCTACCTGCCGCTCTGTGTGG	0.597000													8	36					0.000157383	0.000171862	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72462206	72462206	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:72462206G>T	ENST00000373208.1	+	3	661	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G221W	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	221					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGAACCTGACGGGGACCTGCA	0.622000													7	74					0.00307968	0.00322431	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54814944	54814944	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:54814944A>T	ENST00000218436.6	-	5	784	c.755T>A	c.(754-756)gTg>gAg	p.V252E	ITIH6_ENST00000498398.1_5'UTR	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	252					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CTCCATGACCACATCGTACTG	0.572000													12	43					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545826	81545826	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:81545826A>G	ENST00000548058.1	+	7	1959	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	ACSS3_ENST00000261206.3_Missense_Mutation_p.Y349C|ACSS3_ENST00000548324.1_Missense_Mutation_p.Y32C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	350						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGACATTCCTATATCTGCTAT	0.299000													14	69					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501470	55501470	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55501470T>C	ENST00000543010.1	+	9	2590	c.2447T>C	c.(2446-2448)gTa>gCa	p.V816A	NLRP2_ENST00000339757.7_Missense_Mutation_p.V794A|NLRP2_ENST00000263437.6_Missense_Mutation_p.V813A|NLRP2_ENST00000391721.4_Missense_Mutation_p.V792A|NLRP2_ENST00000537859.1_Missense_Mutation_p.V794A|NLRP2_ENST00000427260.2_Missense_Mutation_p.V793A|NLRP2_ENST00000448584.2_Missense_Mutation_p.V816A|NLRP2_ENST00000538819.1_Missense_Mutation_p.V792A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	816					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)		CTGACGTGCGTAAACCTCTCC	0.517000													22	59					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4910698	4910698	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:4910698G>C	ENST00000396658.4	+	6	1408	c.705G>C	c.(703-705)aaG>aaC	p.K235N	UBN1_ENST00000590769.1_Missense_Mutation_p.K235N|UBN1_ENST00000545171.1_Missense_Mutation_p.K235N|UBN1_ENST00000262376.6_Missense_Mutation_p.K235N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	235	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGGAGAAGAAGAAGAAGAAAT	0.453000													44	165					0	0	1	0	0
MINPP1	9562	broad.mit.edu	37	10	89312134	89312134	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:89312134T>A	ENST00000371996.4	+	5	1404	c.1363T>A	c.(1363-1365)Tat>Aat	p.Y455N	MINPP1_ENST00000536010.1_Missense_Mutation_p.Y254N|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	455					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TGTTTCATTTTATGAAGATCT	0.373000													28	82					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719312	42719312	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:42719312C>A	ENST00000230882.4	+	10	1893	c.1703C>A	c.(1702-1704)aCc>aAc	p.T568N	GHR_ENST00000537449.1_Missense_Mutation_p.T381N|GHR_ENST00000357703.3_Missense_Mutation_p.T546N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	568					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATTTACATCACCACAGAAAGC	0.483000													12	29					2.27111e-07	2.74576e-07	1	1	0
GABRB2	2561	broad.mit.edu	37	5	160721245	160721245	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:160721245G>C	ENST00000274547.2	-	11	1599	c.1382C>G	c.(1381-1383)gCg>gGg	p.A461G	GABRB2_ENST00000520240.1_Missense_Mutation_p.A423G|GABRB2_ENST00000517901.1_Missense_Mutation_p.A360G|GABRB2_ENST00000517547.1_Missense_Mutation_p.A263G|GABRB2_ENST00000393959.1_Missense_Mutation_p.A461G|GABRB2_ENST00000353437.6_Missense_Mutation_p.A423G	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	461					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTCTTTTGCGCCACATGTCG	0.517000													6	51					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145093085	145093085	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:145093085C>A	ENST00000367545.3	+	58	8538	c.8538C>A	c.(8536-8538)acC>acA	p.T2846T	UTRN_ENST00000367526.4_Silent_p.T401T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2846	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTAAAATGACCGAACTCTTTC	0.269000													13	67					5.01169e-05	5.57261e-05	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179605464	179605464	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:179605464C>A	ENST00000467460.1	-	4	637	c.307G>T	c.(307-309)Gct>Tct	p.A103S	PEX5L_ENST00000392649.3_Missense_Mutation_p.A60S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A101S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A68S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A60S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A44S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A79S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A60S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	103					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GAATTACCAGCTGTATTGGAT	0.378000													60	107					1.64573e-32	2.74991e-32	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21631181	21631181	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:21631181C>A	ENST00000328843.6	+	14	2684	c.2653C>A	c.(2653-2655)Cac>Aac	p.H885N	DNAH11_ENST00000409508.3_Missense_Mutation_p.H885N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	885	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGCAAGATCCACAACTTGGT	0.403000									Kartagener syndrome				14	59					6.31663e-08	7.79136e-08	1	1	0
OR14K1	343170	broad.mit.edu	37	1	247902152	247902152	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247902152C>A	ENST00000283225.2	+	1	236	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GTCCCCAAATCCATCCTCAAC	0.507000													16	55					2.48551e-13	3.54407e-13	1	1	0
OR2T4	127074	broad.mit.edu	37	1	248525185	248525185	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248525185G>T	ENST00000366475.1	+	1	303	c.303G>T	c.(301-303)atG>atT	p.M101I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTCTCTCATGGACATGGCGT	0.502000													28	162					9.39395e-14	1.36287e-13	1	1	0
AGBL1	123624	broad.mit.edu	37	15	86940702	86940702	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:86940702T>C	ENST00000441037.2	+	17	2437	c.2342T>C	c.(2341-2343)gTg>gCg	p.V781A	AGBL1_ENST00000421325.2_Missense_Mutation_p.V781A|AGBL1_ENST00000389298.3_Missense_Mutation_p.V512A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	781					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGTGACCCTGTGGCTAGGCTC	0.522000													18	85					0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117900505	117900505	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:117900505A>G	ENST00000371666.3	+	7	908	c.841A>G	c.(841-843)Aaa>Gaa	p.K281E	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	281						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						CCAAGAGGCTAAATGTGAGAA	0.343000													19	51					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170856013	170856013	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:170856013C>G	ENST00000436636.2	-	15	1919	c.1575G>C	c.(1573-1575)atG>atC	p.M525I	TNIK_ENST00000284483.8_Missense_Mutation_p.M525I|TNIK_ENST00000357327.5_Missense_Mutation_p.M496I|TNIK_ENST00000369326.5_Missense_Mutation_p.M496I|TNIK_ENST00000488470.1_Missense_Mutation_p.M525I|TNIK_ENST00000475336.1_Missense_Mutation_p.M496I|TNIK_ENST00000470834.1_Missense_Mutation_p.M496I|TNIK_ENST00000341852.6_Missense_Mutation_p.M496I|TNIK_ENST00000538048.1_Missense_Mutation_p.M525I|TNIK_ENST00000460047.1_Missense_Mutation_p.M525I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	525	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CACTAGGACTCATTCCTTCTT	0.488000													5	44					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410329	159410329	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:159410329C>T	ENST00000423932.3	+	1	818	c.781C>T	c.(781-783)Cac>Tac	p.H261Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	261					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGTCATTGTCCACTACAGCTG	0.502000													20	88					0	0	1	0	0
ZFP1	162239	broad.mit.edu	37	16	75203914	75203914	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:75203914A>G	ENST00000393430.2	+	4	1030	c.906A>G	c.(904-906)gcA>gcG	p.A302A	ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.A269A|ZFP1_ENST00000570010.1_Silent_p.A302A|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						ACGAATGTGCAAAAACCTTCT	0.418000													8	66					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169562916	169562916	+	Silent	SNP	C	C	A	rs140303776		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:169562916C>A	ENST00000263686.6	-	14	2371	c.2334G>T	c.(2332-2334)gcG>gcT	p.A778A	SELP_ENST00000458599.2_Silent_p.A594A|SELP_ENST00000367794.2_Silent_p.A716A|SELP_ENST00000367786.2_Silent_p.A716A|SELP_ENST00000367792.2_Silent_p.A594A|SELP_ENST00000367793.2_Silent_p.A716A|SELP_ENST00000367791.2_Silent_p.A592A|SELP_ENST00000367788.2_Silent_p.A716A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	778					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)	TAGAAGCCACCGCTCCACCAA	0.438000													6	24					0.0215528	0.0220103	1	1	0
TDRD1	56165	broad.mit.edu	37	10	115985873	115985873	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:115985873G>C	ENST00000251864.2	+	22	3226	c.3073G>C	c.(3073-3075)Gca>Cca	p.A1025P	TDRD1_ENST00000369281.2_Missense_Mutation_p.A911P|TDRD1_ENST00000369282.1_Missense_Mutation_p.A1025P|TDRD1_ENST00000369280.1_Missense_Mutation_p.A1025P|TDRD1_ENST00000422662.1_Missense_Mutation_p.A629P	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1025	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGTGCTCTATGCAGACTATGG	0.433000													11	56					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12694237	12694237	+	Translation_Start_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:12694237C>A	ENST00000381137.2	+	0	419				TYRP1_ENST00000388918.5_Missense_Mutation_p.H81N			P17643	TYRP1_HUMAN	tyrosinase-related protein 1						melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TCAGTATCCCCATGATGGCAG	0.592000									Oculocutaneous Albinism				10	15					0.000442599	0.000478175	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163236421	163236421	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:163236421C>G	ENST00000332142.5	-	14	3172	c.3073G>C	c.(3073-3075)Gac>Cac	p.D1025H		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1025					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.D1025H(1)		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)	TAGGTGAGGTCGCTTTCGGTT	0.517000													32	109					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004253	70004253	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70004253G>T	ENST00000361484.3	-	1	689	c.366C>A	c.(364-366)aaC>aaA	p.N122K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	122						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGGTCCTGAGGTTCTGGAGCA	0.602000													16	54					5.01169e-05	5.57261e-05	1	1	0
CDKL5	6792	broad.mit.edu	37	X	18622162	18622162	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:18622162G>T	ENST00000379989.3	+	13	1403	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	CDKL5_ENST00000379996.3_Missense_Mutation_p.G373V|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	373					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCTTGCTGGAGCTAGTCTT	0.512000													57	111					2.23044e-30	3.70658e-30	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33881451	33881451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:33881451C>A	ENST00000504830.1	-	2	597	c.262G>T	c.(262-264)Gag>Tag	p.E88*	ADAMTS12_ENST00000515401.1_Nonsense_Mutation_p.E88*|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E88*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	88					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCCAGTCCTCTGAGCCATCC	0.468000										HNSCC(64;0.19)			87	144					8.45e-40	1.41972e-39	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22382703	22382703	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:22382703G>T	ENST00000328795.4	+	1	322	c.231G>T	c.(229-231)gtG>gtT	p.V77V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	77					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)		CCTTCATTGTGGCTCCCAGGA	0.498000													29	149					2.75727e-19	4.38286e-19	1	1	0
ZNF420	147923	broad.mit.edu	37	19	37619640	37619640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:37619640G>T	ENST00000337995.3	+	5	1962	c.1747G>T	c.(1747-1749)Gga>Tga	p.G583*	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_3'UTR	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCACACTGGAGAAAAACC	0.433000													14	46					9.31168e-06	1.05988e-05	1	1	0
CYP2C19	1557	broad.mit.edu	37	10	96612543	96612543	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:96612543C>T	ENST00000371321.3	+	9	1427	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	449					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)	GTTTTTATTCCTGACCTTCAT	0.443000													20	71					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668723	176668723	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:176668723C>A	ENST00000367662.3	+	8	4398	c.3234C>A	c.(3232-3234)gaC>gaA	p.D1078E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1078					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTTCACGGACGTGTGAGTTT	0.542000													32	137					2.26627e-22	3.68572e-22	1	1	0
SLITRK4	139065	broad.mit.edu	37	X	142717002	142717002	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142717002A>C	ENST00000381779.4	-	2	2148	c.1923T>G	c.(1921-1923)ttT>ttG	p.F641L	SLITRK4_ENST00000338017.4_Missense_Mutation_p.F641L|SLITRK4_ENST00000356928.1_Missense_Mutation_p.F641L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	641						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTCGCAGGACAAAAACAAGAA	0.478000													31	114					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948337	82948337	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:82948337C>A	ENST00000274341.4	-	3	1257	c.407G>T	c.(406-408)aGa>aTa	p.R136I	HAPLN1_ENST00000514416.1_Missense_Mutation_p.R136I	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	136	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ACACTTATATCTCCCATAATC	0.418000													12	81					0.0135373	0.0139651	1	1	0
CADM3	57863	broad.mit.edu	37	1	159163221	159163221	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:159163221C>G	ENST00000368125.4	+	4	548	c.391C>G	c.(391-393)Cag>Gag	p.Q131E	CADM3_ENST00000368124.4_Missense_Mutation_p.Q165E	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	131	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAATTCCACAGAAGCCCAT	0.542000													13	81					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825522	26825522	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:26825522G>A	ENST00000541819.2	-	7	896	c.794C>T	c.(793-795)cCg>cTg	p.P265L	GABRB3_ENST00000299267.4_Missense_Mutation_p.P209L|GABRB3_ENST00000545868.1_Missense_Mutation_p.P124L|GABRB3_ENST00000311550.5_Missense_Mutation_p.P209L|GABRB3_ENST00000400188.3_Missense_Mutation_p.P138L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGAGAACTGCGGGAGCTCAAT	0.562000													28	73					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94618070	94618070	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:94618070C>A	ENST00000258526.4	+	7	2018	c.1769C>A	c.(1768-1770)aCc>aAc	p.T590N		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	590					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAACTTTACCAACTGCTCA	0.353000													16	81					5.3912e-06	6.1904e-06	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20636822	20636822	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:20636822C>T	ENST00000219151.4	-	12	1613	c.403G>A	c.(403-405)Gtt>Att	p.V135I	ACSM1_ENST00000307493.4_Missense_Mutation_p.V484I|ACSM1_ENST00000520010.1_Missense_Mutation_p.V484I			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	484					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCGCTTTCAACCTCTGCAGGC	0.607000													8	29					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212950	60212950	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:60212950G>T	ENST00000267484.5	-	2	826	c.491C>A	c.(490-492)tCt>tAt	p.S164Y		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	164					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCCAGAATCAGAACTAAATAA	0.502000													38	54					1.60099e-16	2.4552e-16	1	1	0
LOC101929950	101929950	broad.mit.edu	37	17	36358907	36358907	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:36358907C>G	ENST00000312412.4	-	6	783	c.784G>C	c.(784-786)Gat>Cat	p.D262H	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.D107H																kidney(1)|lung(3)	4						CACACACCATCTTTTGACCTT	0.408000													29	277					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492683	42492683	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:42492683T>G	ENST00000545399.1	-	2	230	c.77A>C	c.(76-78)aAg>aCg	p.K26T	ATP1A3_ENST00000543770.1_Missense_Mutation_p.K24T|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K13T|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000602133.1_5'UTR	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	13					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCCTTGTTCTTCTTGGGTGA	0.602000													67	179					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244778	46244778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:46244778C>T	ENST00000334344.6	+	15	3044	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q568*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q809*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	958	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.T959fs*9(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCAGCTGGTCAGACAGTTCA	0.473000			"""N, S, F"""		hepatocellular carcinoma								25	103					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607169	42607169	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:42607169C>A	ENST00000359486.3	-	1	4279	c.4143G>T	c.(4141-4143)acG>acT	p.T1381T	TCF20_ENST00000335626.4_Silent_p.T1381T	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1381					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						TATCATCAAGCGTAACCGTGT	0.488000													4	100					1	1	1	1	0
KLHDC1	122773	broad.mit.edu	37	14	50159966	50159966	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:50159966C>G	ENST00000359332.2	+	1	144	c.54C>G	c.(52-54)gcC>gcG	p.A18A		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	18						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GCCACTGCGCCGTGGTGGACG	0.706000													8	46					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603857	52603857	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:52603857C>A	ENST00000395489.2	-	6	500	c.104G>T	c.(103-105)gGc>gTc	p.G35V	A1CF_ENST00000373995.3_Missense_Mutation_p.G50V|A1CF_ENST00000395495.1_Missense_Mutation_p.G42V|A1CF_ENST00000373993.1_Missense_Mutation_p.G42V|A1CF_ENST00000282641.2_Missense_Mutation_p.G42V|A1CF_ENST00000374001.1_Missense_Mutation_p.G42V|A1CF_ENST00000373997.3_Missense_Mutation_p.G42V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	42					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGGTGGAGGGCCACCATATTT	0.433000													14	61					1.05317e-09	1.36152e-09	1	1	0
UQCRFS1	7386	broad.mit.edu	37	19	29698651	29698651	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:29698651C>A	ENST00000304863.4	-	2	1051	c.629G>T	c.(628-630)tGg>tTg	p.W210L		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	210	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CAGGATAACCCATTCAGGTTT	0.453000													28	77					2.44723e-14	3.59032e-14	1	1	0
OVGP1	5016	broad.mit.edu	37	1	111969254	111969254	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:111969254T>C	ENST00000369732.3	-	3	120	c.65A>G	c.(64-66)cAt>cGt	p.H22R	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	22					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACGAGTTTATGGGCAGCACC	0.547000													5	20					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142142437	142142437	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:142142437T>A	ENST00000264951.4	-	6	792	c.675A>T	c.(673-675)agA>agT	p.R225S	XRN1_ENST00000463916.1_Missense_Mutation_p.R225S|XRN1_ENST00000544157.1_Missense_Mutation_p.R15S|XRN1_ENST00000392981.2_Missense_Mutation_p.R225S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	225					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAACTTCTTCTCTTAAGAGAG	0.289000													9	31					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944181	55944181	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55944181G>T	ENST00000312298.1	+	1	88	c.88G>T	c.(88-90)Gtg>Ttg	p.V30L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCTTTTTGTGGTGTTCCTGGT	0.388000													37	123					2.87052e-16	4.38738e-16	1	1	0
MAP3K7	6885	broad.mit.edu	37	6	91226340	91226340	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:91226340C>G	ENST00000369329.3	-	17	1862	c.1701G>C	c.(1699-1701)ctG>ctC	p.L567L	MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_Silent_p.L540L|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369320.1_Silent_p.L221L	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	567					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTCCTGTACCAGGCGAGATG	0.383000													14	40					0	0	1	0	0
MRPL15	29088	broad.mit.edu	37	8	55049212	55049212	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:55049212A>T	ENST00000260102.4	+	2	324	c.250A>T	c.(250-252)Aac>Tac	p.N84Y		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	84					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ATACGGGTTTAACGAAGGACA	0.438000													33	55					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5765644	5765644	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:5765644C>A	ENST00000328090.5	+	7	776	c.151C>A	c.(151-153)Cag>Aag	p.Q51K	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	51																	TTTCAGACCGCAGGAACTAGA	0.313000													13	40					9.05144e-12	1.23848e-11	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55036775	55036775	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55036775G>T	ENST00000417545.2	+	5	722	c.636G>T	c.(634-636)ggG>ggT	p.G212G		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	196						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGGGCAGGGCCCATCACTG	0.507000													9	45					3.07112e-06	3.55317e-06	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21489242	21489242	+	Silent	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:21489242A>C	ENST00000313654.9	+	55	7382	c.7141A>C	c.(7141-7143)Aga>Cga	p.R2381R	LAMA3_ENST00000269217.6_Silent_p.R772R|LAMA3_ENST00000399516.3_Silent_p.R2325R|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.R716R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2381	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGCAGGCCAGAGATGCTGC	0.433000													13	43					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177034365	177034365	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:177034365A>T	ENST00000468418.3	+	3	2613	c.523A>T	c.(523-525)Aac>Tac	p.N175Y	HOXD3_ENST00000249440.3_Missense_Mutation_p.N175Y|HOXD3_ENST00000410016.1_Missense_Mutation_p.N175Y			P31249	HXD3_HUMAN	homeobox D3	175					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAAGCAGAAGAACAGCTGTGC	0.562000													33	85					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482659	20482659	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20482659C>T	ENST00000305045.2	-	1	693	c.694G>A	c.(694-696)Ggt>Agt	p.G232S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATGTGCTACCGGCAGCACGC	0.493000													17	24					0	0	1	0	0
IL19	29949	broad.mit.edu	37	1	207013254	207013254	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:207013254C>T	ENST00000270218.6	+	5	1209	c.270C>T	c.(268-270)ttC>ttT	p.F90F	IL19_ENST00000340758.2_Silent_p.F128F	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	90					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACAGGGTGTTCAAGGATCATC	0.478000													57	204					0	0	1	0	0
RAN	5901	broad.mit.edu	37	12	131359090	131359090	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:131359090G>A	ENST00000543796.1	+	5	505		c.e5-1		RAN_ENST00000392369.2_Splice_Site|RAN_ENST00000392367.3_Splice_Site|RAN_ENST00000254675.3_Splice_Site|RAN_ENST00000541630.1_Splice_Site			P62826	RAN_HUMAN	RAN, member RAS oncogene family						androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TGTTTCTTCAGCCCAGTGTGC	0.403000													10	29					0	0	1	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39388967	39388967	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:39388967C>A	ENST00000411528.2	+	1	253	c.214C>A	c.(214-216)Cag>Aag	p.Q72K		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	72	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CAGCTGCTGCCAGCCTTCCTG	0.597000													20	68					2.37509e-13	3.40256e-13	1	1	0
GDNF	2668	broad.mit.edu	37	5	37834853	37834853	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:37834853T>A	ENST00000326524.2	-	2	245	c.46A>T	c.(46-48)Acc>Tcc	p.T16S	GDNF_ENST00000515058.1_Missense_Mutation_p.T16S|GDNF_ENST00000344622.4_Missense_Mutation_p.T16S|GDNF_ENST00000381826.4_Missense_Mutation_p.T33S|GDNF_ENST00000427982.1_Missense_Mutation_p.T33S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	16					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GCGGACGCGGTGTGGAGCAGC	0.726000													37	56					0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45914284	45914284	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:45914284C>A	ENST00000269025.4	+	8	1127	c.764C>A	c.(763-765)gCg>gAg	p.A255E		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	255										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCCACTCCTGCGCAAGGGGAG	0.647000													30	120					1.08312e-15	1.62824e-15	1	1	0
NEO1	4756	broad.mit.edu	37	15	73580727	73580727	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:73580727G>C	ENST00000339362.5	+	25	3931	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H|NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H			Q92859	NEO1_HUMAN	neogenin 1	1162					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						GAAACCTCCAGATCTCTGGAT	0.463000													20	76					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119077278	119077278	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:119077278C>A	ENST00000371410.3	-	1	457	c.291G>T	c.(289-291)tcG>tcT	p.S97S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	97	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AATAGACTGACGAGGAGGCAG	0.657000													15	40					3.32936e-07	4.00399e-07	1	1	0
NUTM1	256646	broad.mit.edu	37	15	34640379	34640379	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:34640379G>A	ENST00000537011.1	+	3	692	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	NUTM1_ENST00000438749.3_Missense_Mutation_p.G94R|NUTM1_ENST00000333756.4_Missense_Mutation_p.G76R					NUT midline carcinoma, family member 1																		GACAGGGGATGGGGGCCCTTG	0.567000													42	139					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41018519	41018519	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:41018519C>A	ENST00000399564.4	-	27	3137	c.2687G>T	c.(2686-2688)tGg>tTg	p.W896L	MROH2B_ENST00000506092.2_Missense_Mutation_p.W451L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGAAACAAGCCACATTTGGAG	0.363000													3	21					0.115264	0.116282	1	1	0
DBX1	120237	broad.mit.edu	37	11	20180738	20180738	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:20180738T>G	ENST00000524983.2	-	2	756	c.469_splice	c.e2+1	p.P156_splice	DBX1_ENST00000227256.3_Splice_Site_p.P156_splice			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	156					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GAGACCTACCTGGGAAATAAG	0.607000													12	67					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123839067	123839067	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:123839067C>A	ENST00000422452.2	-	5	874	c.811G>T	c.(811-813)Gcg>Tcg	p.A271S	TENM1_ENST00000371130.3_Missense_Mutation_p.A271S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGAAGATCGCAGAGGAACCA	0.493000													45	85					1.76056e-25	2.89415e-25	1	1	0
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612000													5	319					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459682	148459682	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:148459682C>A	ENST00000542281.1	+	4	1306	c.860C>A	c.(859-861)aCc>aAc	p.T287N	AGTR1_ENST00000404754.2_Missense_Mutation_p.T287N|AGTR1_ENST00000349243.3_Missense_Mutation_p.T287N|AGTR1_ENST00000418473.2_Missense_Mutation_p.T287N|AGTR1_ENST00000475347.1_Missense_Mutation_p.T287N|AGTR1_ENST00000497524.1_Missense_Mutation_p.T287N|AGTR1_ENST00000461609.1_Missense_Mutation_p.T287N|AGTR1_ENST00000474935.1_Missense_Mutation_p.T287N|AGTR1_ENST00000402260.1_Missense_Mutation_p.T287N	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	287					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATGCCTATCACCATTTGTATA	0.343000													5	72					0.014758	0.0151389	1	1	0
ANLN	54443	broad.mit.edu	37	7	36438973	36438973	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:36438973G>T	ENST00000265748.2	+	3	679	c.458G>T	c.(457-459)cGg>cTg	p.R153L	ANLN_ENST00000396068.2_Missense_Mutation_p.R153L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	153	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCAGAGCAACGGCGCCGTTGG	0.448000													15	40					6.72482e-11	8.9599e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179442852	179442852	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179442852G>C	ENST00000589042.1	-	322	68614	c.68390C>G	c.(68389-68391)cCg>cGg	p.P22797R	TTN_ENST00000359218.5_Missense_Mutation_p.P13857R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20229R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13924R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21156R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13732R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21156	Ig-like 117.						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)			CATCCTTATCGGAGTCTTGTT	0.418000													12	61					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419118	105419118	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:105419118C>A	ENST00000333244.5	-	7	2789	c.2670G>T	c.(2668-2670)ctG>ctT	p.L890L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	890						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGACCTCCAGGTCAGCGG	0.642000													168	232					2.1406e-88	3.62316e-88	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100552726	100552726	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:100552726C>A	ENST00000319509.7	+	1	1477	c.1477C>A	c.(1477-1479)Cgc>Agc	p.R493S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGGACAACTCGCATCACTTC	0.557000													52	212					2.22609e-26	3.67264e-26	1	1	0
SPRY3	10251	broad.mit.edu	37	X	155004339	155004339	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:155004339T>A	ENST00000302805.2	+	2	1237	c.806T>A	c.(805-807)gTg>gAg	p.V269E		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	269	Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCAACACTGTGTGCAGAAAG	0.562000													44	147					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19702001	19702001	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:19702001C>A	ENST00000397821.3	-	6	956	c.666G>T	c.(664-666)aaG>aaT	p.K222N	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.K266N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K185N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	222					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTTTGATTGGCTTGTCTTTGA	0.438000													35	90					4.00102e-26	6.58906e-26	1	1	0
MEGF9	1955	broad.mit.edu	37	9	123367689	123367689	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:123367689C>G	ENST00000373930.3	-	6	1699	c.1588G>C	c.(1588-1590)Gga>Cga	p.G530R	MEGF9_ENST00000426959.1_Missense_Mutation_p.G567R	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	530						integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CCCACAAATCCCATTAGCAGC	0.428000													5	82					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435519	158435519	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:158435519T>C	ENST00000289451.2	+	1	248	c.168T>C	c.(166-168)caT>caC	p.H56H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAGCCCTTCATACTCCCATGT	0.478000													39	124					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94031951	94031951	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:94031951T>C	ENST00000282020.4	+	4	840	c.582T>C	c.(580-582)gaT>gaC	p.D194D	GRID2_ENST00000510992.1_Silent_p.D99D|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	194					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGGAATGGATGTTGCACTTC	0.388000													19	87					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967296	142967296	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142967296G>T	ENST00000370494.1	+	1	124	c.94G>T	c.(94-96)Gcc>Tcc	p.A32S		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	32							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAGCAACGCCCGTTATTT	0.493000													36	120					4.11147e-13	5.82618e-13	1	1	0
C4orf29	80167	broad.mit.edu	37	4	128949870	128949870	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:128949870A>T	ENST00000388795.5	+	11	1199	c.796A>T	c.(796-798)Aaa>Taa	p.K266*	C4orf29_ENST00000398965.1_Nonsense_Mutation_p.K314*|C4orf29_ENST00000444616.1_Nonsense_Mutation_p.K314*			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	314						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TTCAACCAACAAAAGTGGTTA	0.383000													22	73					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101012074	101012074	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:101012074C>G	ENST00000264249.3	-	6	815	c.430G>C	c.(430-432)Gca>Cca	p.A144P	CHST10_ENST00000542617.1_Missense_Mutation_p.A192P|CHST10_ENST00000409701.1_Missense_Mutation_p.A144P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	144					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAAGAAAATGCTCCTGGGAAG	0.517000													7	26					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98995169	98995169	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:98995169C>T	ENST00000188376.5	+	7	1303	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	SLC25A3_ENST00000548847.1_Missense_Mutation_p.R280C|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R317C|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R318C|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R317C|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R317C|SLC25A3_ENST00000228318.3_Missense_Mutation_p.R318C	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	318					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ACTGTTTGCCCGTATCATCAT	0.433000													14	74					0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681102	19681102	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:19681102G>A	ENST00000251203.8	-	4	734	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	150							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTGAACTCACGACAGGCCTGG	0.662000													7	20					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166385593	166385593	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:166385593G>T	ENST00000402744.4	+	2	639	c.359G>T	c.(358-360)gGa>gTa	p.G120V		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	120					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)	GAGGCTGTTGGACGAGAACTG	0.428000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	34					0.0293803	0.0298043	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72363367	72363367	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:72363367G>T	ENST00000340595.3	+	13	2188	c.1992G>T	c.(1990-1992)atG>atT	p.M664I	SLC4A4_ENST00000264485.5_Missense_Mutation_p.M708I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.M708I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.M708I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	708						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCTCTTCCATGGCTCTGAAAA	0.363000													15	59					1.67942e-08	2.11431e-08	1	1	0
PLCXD3	345557	broad.mit.edu	37	5	41382320	41382320	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:41382320C>T	ENST00000377801.3	-	2	494	c.420G>A	c.(418-420)gtG>gtA	p.V140V	PLCXD3_ENST00000328457.3_Silent_p.V140V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	140	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGTCCAAGAACACTACCTCCT	0.408000													46	85					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179504494	179504494	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179504494G>T	ENST00000589042.1	-	223	41032	c.40808C>A	c.(40807-40809)cCt>cAt	p.P13603H	TTN_ENST00000359218.5_Missense_Mutation_p.P4663H|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P11035H|TTN_ENST00000342175.6_Missense_Mutation_p.P4730H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11962H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4538H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11962	Ig-like 92.						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)			TTCCACAGGAGGTGGTTTGAT	0.418000													9	32					7.48243e-07	8.90487e-07	1	1	0
XRCC4	7518	broad.mit.edu	37	5	82648965	82648965	+	Silent	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:82648965A>C	ENST00000282268.3	+	8	1084	c.909A>C	c.(907-909)ctA>ctC	p.L303L	XRCC4_ENST00000396027.4_Silent_p.L303L|XRCC4_ENST00000338635.6_Silent_p.L305L|XRCC4_ENST00000511817.1_Silent_p.L305L	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	305					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		ATTCTTCACTACCTGAGACGT	0.343000								Non-homologous end-joining					16	101					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192250719	192250719	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:192250719A>G	ENST00000392318.3	+	16	1710	c.1463A>G	c.(1462-1464)cAt>cGt	p.H488R	MYO1B_ENST00000304164.4_Missense_Mutation_p.H488R|MYO1B_ENST00000339514.4_Missense_Mutation_p.H488R|MYO1B_ENST00000392316.1_Missense_Mutation_p.H488R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	488	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCCACCAGCATTTTGAGAGC	0.522000													49	192					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69670069	69670069	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:69670069G>A	ENST00000194900.4	+	6	1149	c.808G>A	c.(808-810)Gac>Aac	p.D270N	DLG3_ENST00000374360.3_Missense_Mutation_p.D252N			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	252	PDZ 2.				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)					CATCCCAGGAGACAACAGCAT	0.582000													4	13					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160044982	160044982	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:160044982T>G	ENST00000327245.5	-	16	3263		c.e16-2		CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B						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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCAGGTACTGTCAAATAGC	0.458000													6	48					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29670487	29670487	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:29670487T>A	ENST00000256062.5	-	14	2191	c.1718A>T	c.(1717-1719)cAc>cTc	p.H573L	TMTC1_ENST00000539277.1_Missense_Mutation_p.H681L|TMTC1_ENST00000552618.1_Missense_Mutation_p.H705L|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.H743L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	681						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTCAGCTTTGTGTGCCACCTG	0.453000													17	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592942	179592942	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179592942A>T	ENST00000589042.1	-	67	19833	c.19609T>A	c.(19609-19611)Tct>Act	p.S6537T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5293T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6220T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6220	Ig-like 47.						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)			ACTTCCAGAGACACAGATCTC	0.398000													4	20					0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52685169	52685169	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:52685169G>A	ENST00000327741.5	-	1	149	c.81C>T	c.(79-81)atC>atT	p.I27I	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	27	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCGGCGGTGATGCAGCAGC	0.711000													9	16					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231139	7231139	+	Translation_Start_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:7231139G>A	ENST00000383467.2	+	1	17	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	1										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGGTACAATGGGGGCCAGGC	0.602000													13	52					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14796620	14796620	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:14796620G>T	ENST00000261170.3	-	17	1954	c.1818C>A	c.(1816-1818)tcC>tcA	p.S606S		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	606	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTGTCTTACTGGAGTGCAGAT	0.373000													15	95					0.00074312	0.0007944	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7797432	7797432	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:7797432C>T	ENST00000303635.7	+	15	3667	c.3460C>T	c.(3460-3462)Cgg>Tgg	p.R1154W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1154W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCCAGGTCACGGGGTCATGT	0.572000			T	WWTR1	epitheliod hemangioendothelioma								27	96					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70721966	70721966	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:70721966G>C	ENST00000261776.5	-	19	2474	c.2214C>G	c.(2212-2214)tcC>tcG	p.S738S	VAC14_ENST00000571759.1_5'UTR|VAC14_ENST00000536184.2_Silent_p.S170S	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	738					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CAGCTTTCTGGGACTTGGGGG	0.597000													30	148					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30990627	30990627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:30990627G>T	ENST00000262519.8	+	14	4206	c.3520G>T	c.(3520-3522)Gag>Tag	p.E1174*		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1174	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTCTGCCATCGAGGTGGTGCC	0.711000													13	39					0.0202918	0.020769	1	1	0
BBX	56987	broad.mit.edu	37	3	107491516	107491516	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:107491516G>T	ENST00000415149.2	+	11	1275	c.948G>T	c.(946-948)aaG>aaT	p.K316N	BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.K316N|BBX_ENST00000402543.1_Missense_Mutation_p.K316N|BBX_ENST00000325805.8_Missense_Mutation_p.K316N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAGAATCAAAGCTAATAAAAG	0.348000													9	32					3.09899e-07	3.73677e-07	1	1	0
HEPH	9843	broad.mit.edu	37	X	65474968	65474968	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:65474968A>G	ENST00000519389.1	+	16	2996	c.2817A>G	c.(2815-2817)gcA>gcG	p.A939A	HEPH_ENST00000374727.3_Silent_p.A888A|HEPH_ENST00000336279.5_Silent_p.A618A|HEPH_ENST00000441993.2_Silent_p.A888A|HEPH_ENST00000419594.1_Silent_p.A696A|HEPH_ENST00000343002.2_Silent_p.A885A			Q9BQS7	HEPH_HUMAN	hephaestin	885	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATTATTCTGCAGTGGATCCCA	0.478000													14	27					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43252873	43252873	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:43252873T>G	ENST00000290650.4	-	43	4805	c.4727A>C	c.(4726-4728)aAc>aCc	p.N1576T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1576					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTTCAAACAGTTTAGTAAGGC	0.398000													9	23					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935177	30935177	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:30935177C>T	ENST00000355537.3	+	2	855	c.708C>T	c.(706-708)gcC>gcT	p.A236A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGCTGGCCGCCTGCACCC	0.746000													7	10					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101012318	101012318	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:101012318A>G	ENST00000537247.1	+	8	1243	c.289A>G	c.(289-291)Atc>Gtc	p.I97V	GAS2L3_ENST00000266754.5_Missense_Mutation_p.I201V|GAS2L3_ENST00000539410.1_Missense_Mutation_p.I201V|GAS2L3_ENST00000547754.1_Missense_Mutation_p.I201V			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	201	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAAGATTCCATCAGCATTCC	0.408000													6	45					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892418	219892418	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:219892418G>A	ENST00000341552.5	-	13	2248	c.2165C>T	c.(2164-2166)cCc>cTc	p.P722L	CCDC108_ENST00000410037.1_Missense_Mutation_p.P657L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P711L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P722L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P722L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	722						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCAGTTGGGGTGAGGCGG	0.607000													33	121					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559089	41559089	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:41559089T>A	ENST00000400454.1	-	14	3225	c.2748A>T	c.(2746-2748)acA>acT	p.T916T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	916	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TATCGTAGCCTGTGATGGGAC	0.433000													6	36					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124097570	124097570	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:124097570A>T	ENST00000422452.2	-	1	96	c.33T>A	c.(31-33)ccT>ccA	p.P11P	TENM1_ENST00000371130.3_Silent_p.P11P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTTTTGGTAGAGGCTGGTAGG	0.433000													38	94					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57158157	57158157	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:57158157G>T	ENST00000371244.4	+	4	523	c.457G>T	c.(457-459)Gcc>Tcc	p.A153S		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	153	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ACACATGAATGCCAAGATAGC	0.408000													20	103					8.34094e-07	9.86237e-07	1	1	0
SOX6	55553	broad.mit.edu	37	11	16077304	16077304	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:16077304T>C	ENST00000352083.6	-	10	1322	c.1245A>G	c.(1243-1245)caA>caG	p.Q415Q	SOX6_ENST00000527619.1_Silent_p.Q377Q|SOX6_ENST00000528252.1_Silent_p.Q374Q|SOX6_ENST00000528429.1_Silent_p.Q415Q|SOX6_ENST00000316399.6_Silent_p.Q415Q|SOX6_ENST00000396356.3_Silent_p.Q415Q			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	415					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						GTACCTTAACTTGAGTTACAG	0.453000													12	42					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140535	3140535	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:3140535C>A	ENST00000252463.2	-	5	822	c.735G>T	c.(733-735)ccG>ccT	p.P245P	ZSCAN10_ENST00000538082.2_Silent_p.P163P|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	245					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602000													22	89					2.44723e-14	3.59032e-14	1	1	0
C12orf57	113246	broad.mit.edu	37	12	7053829	7053829	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:7053829G>T	ENST00000544681.1	+	2	548	c.243G>T	c.(241-243)gcG>gcT	p.A81A	C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000229281.5_Intron|C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000540506.2_Intron			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	81										kidney(1)|large_intestine(1)	2						GGTCAGACGCGGGAAGGCGGG	0.652000											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	61					0.000673444	0.000720759	1	1	0
KIAA0100	9703	broad.mit.edu	37	17	26943725	26943725	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:26943725T>C	ENST00000528896.2	-	35	6142	c.6068A>G	c.(6067-6069)cAc>cGc	p.H2023R	SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1880R|KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1880R|KIAA0100_ENST00000579924.2_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2023						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)					CATCATTCTGTGGAAGAACTG	0.423000													21	65					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25752524	25752524	+	RNA	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:25752524C>G	ENST00000586223.1	+	0	1359					NR_033892.1																						AATGGCGGGACAGTTCAGGGG	0.552000													13	90					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20070386	20070386	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:20070386G>T	ENST00000396085.1	+	15	4376	c.4015G>T	c.(4015-4017)Gac>Tac	p.D1339Y	NAV2_ENST00000349880.4_Missense_Mutation_p.D1339Y|NAV2_ENST00000311043.8_Missense_Mutation_p.D425Y|NAV2_ENST00000527559.2_Missense_Mutation_p.D1291Y|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.D1293Y|NAV2_ENST00000360655.4_Missense_Mutation_p.D1275Y|NAV2_ENST00000396087.3_Missense_Mutation_p.D1362Y|NAV2_ENST00000533917.1_Missense_Mutation_p.D425Y	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1362						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						AGGTAACCTAGACTCCCCGTC	0.557000													33	96					1.56442e-22	2.5488e-22	1	1	0
BAI3	577	broad.mit.edu	37	6	70048838	70048838	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:70048838G>C	ENST00000370598.1	+	25	4040	c.3219G>C	c.(3217-3219)acG>acC	p.T1073T	BAI3_ENST00000238918.8_Silent_p.T279T|BAI3_ENST00000546190.1_Silent_p.T37T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1073					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCGGTTTGACGCTCAAATGTG	0.418000													46	139					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14758587	14758587	+	Splice_Site	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:14758587A>T	ENST00000284268.6	-	3	763		c.e3+1			NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator						locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCTACTCACCATTGCGTC	0.413000													4	61					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11068350	11068350	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:11068350G>T	ENST00000403050.3	+	7	1812	c.1360G>T	c.(1360-1362)Gtt>Ttt	p.V454F	PHF14_ENST00000445996.2_Missense_Mutation_p.V169F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	454							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAGAACTGGGGTTTGCATTAG	0.463000													13	29					0.00185496	0.00196004	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140406653	140406653	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:140406653A>G	ENST00000286349.3	+	3	1320	c.1129A>G	c.(1129-1131)Aga>Gga	p.R377G		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	377						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAAAGAGATCAGAAATGGCTT	0.388000													9	61					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283484	47283484	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:47283484G>A	ENST00000467728.1	+	6	2141	c.903G>A	c.(901-903)gaG>gaA	p.E301E	NR1H3_ENST00000527949.1_Silent_p.E150E|NR1H3_ENST00000407404.1_Silent_p.E241E|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Silent_p.E241E|NR1H3_ENST00000481889.2_Silent_p.E320E|NR1H3_ENST00000395397.3_Silent_p.E256E|NR1H3_ENST00000441012.2_Silent_p.E301E|NR1H3_ENST00000405576.1_Silent_p.E196E			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	301	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGCTTCTGGAGACATCTCGGA	0.527000													37	149					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113798753	113798753	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:113798753G>T	ENST00000512097.3	+	5	2027	c.1009G>T	c.(1009-1011)Gat>Tat	p.D337Y	KCNN2_ENST00000503706.1_5'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.D337Y|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	337						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)		CAGGTACCATGATCAACAGGA	0.363000													32	91					1.56738e-10	2.07283e-10	1	1	0
RTDR1	27156	broad.mit.edu	37	22	23404068	23404068	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:23404068C>A	ENST00000216036.4	-	6	905	c.709G>T	c.(709-711)Gtc>Ttc	p.V237F		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	237							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AGCAGATGGACCAGGATGGGG	0.572000													13	51					9.31168e-06	1.05988e-05	1	1	0
MS4A14	84689	broad.mit.edu	37	11	60183199	60183199	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:60183199C>G	ENST00000300187.6	+	5	1035	c.758C>G	c.(757-759)cCc>cGc	p.P253R	MS4A14_ENST00000395005.2_Missense_Mutation_p.P236R|MS4A14_ENST00000531783.1_Missense_Mutation_p.P286R|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.P141R	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	253						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTTTGCCTCCCACACTAGAG	0.373000													16	68					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090605	91090605	+	Missense_Mutation	SNP	G	G	T	rs2524441		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:91090605G>T	ENST00000373094.1	+	1	947	c.102G>T	c.(100-102)atG>atT	p.M34I	PCDH11X_ENST00000373097.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.M34I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.M34I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.M34I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.M34I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	34	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAGAAGAAATGCCAGAAAACG	0.488000													12	26					4.36969e-10	5.69743e-10	1	1	0
IQGAP3	128239	broad.mit.edu	37	1	156518165	156518165	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:156518165G>C	ENST00000361170.2	-	18	2118	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	703					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCAGGTGAGAGGTGTTGAG	0.572000													15	55					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169993613	169993613	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:169993613T>A	ENST00000367765.1	-	9	2347	c.846A>T	c.(844-846)ttA>ttT	p.L282F	RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000367767.1_Missense_Mutation_p.L278F|KIFAP3_ENST00000540905.1_Missense_Mutation_p.L24F|KIFAP3_ENST00000538366.1_Missense_Mutation_p.L244F|KIFAP3_ENST00000361580.2_Missense_Mutation_p.L322F	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	322					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)					ATGACACAACTAAAATTAGCA	0.343000													11	28					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272914	47272914	+	Missense_Mutation	SNP	G	G	T	rs144915700		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:47272914G>T	ENST00000377073.3	+	4	1528	c.1442G>T	c.(1441-1443)cGg>cTg	p.R481L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	481					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCTTTCTGCCGGAAAGCACAC	0.473000													19	32					7.41877e-09	9.39163e-09	1	1	0
ZNF8	7554	broad.mit.edu	37	19	58806088	58806088	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:58806088G>A	ENST00000196548.5	+	4	1045	c.914G>A	c.(913-915)cGc>cAc	p.R305H	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CAGCATGAGCGCATCCACACT	0.532000													10	59					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181994	120181994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:120181994C>A	ENST00000328078.1	+	1	533	c.456C>A	c.(454-456)taC>taA	p.Y152*		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	152					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTATCCGTTACAGCACTGATG	0.577000													25	63					7.88262e-20	1.26621e-19	1	1	0
RASD2	23551	broad.mit.edu	37	22	35947937	35947937	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:35947937G>T	ENST00000216127.4	+	3	1301	c.659G>T	c.(658-660)cGc>cTc	p.R220L		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	220	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TTCTGCATGCGCCGCGTCAAG	0.632000													24	69					4.87955e-14	7.1131e-14	1	1	0
DPPA4	55211	broad.mit.edu	37	3	109050771	109050771	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:109050771G>T	ENST00000335658.6	-	3	340	c.286C>A	c.(286-288)Cgg>Agg	p.R96R	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	96						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						AGAATGTCCCGGTGAATCAGA	0.542000													22	81					7.87624e-14	1.14632e-13	1	1	0
BSX	390259	broad.mit.edu	37	11	122848490	122848490	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:122848490C>T	ENST00000343035.2	-	3	617	c.569G>A	c.(568-570)cGc>cAc	p.R190H		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	190										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CTCTGAACCGCGGGGGCTGCC	0.652000													10	24					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96228050	96228050	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:96228050G>A	ENST00000437043.3	+	6	1729	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	ERAP2_ENST00000379904.4_Missense_Mutation_p.G295S|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	340					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAAAATTGGGGCCTCATTAC	0.443000													19	67					0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50596258	50596258	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:50596258C>T	ENST00000380877.3	-	3	604	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	GABPB1_ENST00000396464.3_Missense_Mutation_p.G61S|GABPB1_ENST00000359031.4_Missense_Mutation_p.G61S|GABPB1_ENST00000543881.1_5'UTR|GABPB1_ENST00000220429.8_Missense_Mutation_p.G61S|GABPB1_ENST00000429662.2_Missense_Mutation_p.G61S|GABPB1_ENST00000560825.1_Missense_Mutation_p.G61S	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	61					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CTGCTCACACCAGCTCGCAGC	0.463000													24	61					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944099	121944099	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:121944099C>G	ENST00000442488.2	-	1	460	c.393G>C	c.(391-393)ctG>ctC	p.L131L	FEZF1_ENST00000331178.4_Silent_p.L131L|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.L131L	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	131					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGTCGCGGGCCAGGTCGCCCT	0.682000													4	11					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38081518	38081518	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:38081518G>A	ENST00000290399.6	+	2	839	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	SIM2_ENST00000430056.3_Missense_Mutation_p.V76I|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	76					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCTGGACGGCGTCGCCAAGGA	0.711000													4	14					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118635845	118635845	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:118635845C>A	ENST00000336338.5	-	8	1172	c.1107G>T	c.(1105-1107)atG>atT	p.M369I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	369						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAATAAGCTGCATGCTTTCCA	0.413000													12	24					2.27111e-07	2.74576e-07	1	1	0
ANK1	286	broad.mit.edu	37	8	41525935	41525935	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:41525935C>T	ENST00000396942.1	-	39	5327	c.5244G>A	c.(5242-5244)caG>caA	p.Q1748Q	ANK1_ENST00000396945.1_Silent_p.Q1748Q|ANK1_ENST00000352337.4_Silent_p.Q1748Q|ANK1_ENST00000265709.8_Silent_p.Q1789Q|ANK1_ENST00000289734.7_Silent_p.Q1748Q|ANK1_ENST00000379758.2_Silent_p.Q1748Q|ANK1_ENST00000347528.4_Silent_p.Q1748Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1748	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCGTACTCCTGAGATCCAC	0.592000													27	36					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70894073	70894073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:70894073G>T	ENST00000393567.2	-	71	12177	c.12027C>A	c.(12025-12027)taC>taA	p.Y4009*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4009										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCAGAAGGAGTAGGTGCTAT	0.473000													19	43					1.50039e-11	2.04375e-11	1	1	0
ENOX1	55068	broad.mit.edu	37	13	43918804	43918804	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:43918804C>A	ENST00000261488.6	-	9	1483	c.906G>T	c.(904-906)caG>caT	p.Q302H	ENOX1_ENST00000540032.1_Missense_Mutation_p.Q115H|ENOX1_ENST00000412891.1_Missense_Mutation_p.Q302H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	302					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGGAATAGAACTGGTTTGCAG	0.493000													19	45					3.51602e-12	4.87654e-12	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20996903	20996903	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:20996903C>A	ENST00000261383.3	-	48	7160	c.7161G>T	c.(7159-7161)gtG>gtT	p.V2387V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2387					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTCCATGACCACAGTCAGCT	0.453000													21	79					2.89027e-11	3.90207e-11	1	1	0
MTMR8	55613	broad.mit.edu	37	X	63488477	63488477	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:63488477C>G	ENST00000374852.3	-	14	2122	c.2055G>C	c.(2053-2055)ttG>ttC	p.L685F	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	685						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTGTGTCCCCCAAGATGCCCA	0.532000													18	30					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720669	21720669	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:21720669C>T	ENST00000358491.4	+	4	2022	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTTAATCGGTCCTCAAGACTT	0.368000													9	47					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21467549	21467549	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:21467549C>G	ENST00000307378.6	-	5	989	c.269G>C	c.(268-270)gGc>gCc	p.G90A	SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G90A|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G88A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	90					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACATCCAATGCCAATCATTAT	0.338000													9	67					0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1959666	1959666	+	Splice_Site	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:1959666A>G	ENST00000381558.1	+	15	977		c.e15-1		TNNT3_ENST00000278317.6_Splice_Site|TNNT3_ENST00000446240.1_Splice_Site|TNNT3_ENST00000397304.2_Splice_Site|TNNT3_ENST00000381549.3_Splice_Site|TNNT3_ENST00000381579.3_Splice_Site|TNNT3_ENST00000381548.3_Splice_Site|TNNT3_ENST00000381561.4_Splice_Site|TNNT3_ENST00000397301.1_Splice_Site|TNNT3_ENST00000360603.3_Splice_Site|TNNT3_ENST00000381589.3_Splice_Site			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)						muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TCCCATTTGCAGCAGCAAGAA	0.662000													16	47					0	0	1	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963343	106963343	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:106963343G>T	ENST00000390621.2	-	0	81																											CCACCAAGAAGAGGATTCTCC	0.557000													16	74					3.52763e-06	4.0659e-06	1	1	0
WASF2	10163	broad.mit.edu	37	1	27736340	27736340	+	Silent	SNP	A	A	G	rs71584884		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:27736340A>G	ENST00000430629.2	-	8	1400	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642000													4	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632518	179632518	+	Missense_Mutation	SNP	C	C	A	rs150283731		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179632518C>A	ENST00000589042.1	-	40	9663	c.9439G>T	c.(9439-9441)Gtt>Ttt	p.V3147F	TTN_ENST00000359218.5_Missense_Mutation_p.V3101F|TTN_ENST00000360870.5_Missense_Mutation_p.V3147F|TTN_ENST00000342992.6_Missense_Mutation_p.V3147F|TTN_ENST00000342175.6_Missense_Mutation_p.V3101F|TTN_ENST00000591111.1_Missense_Mutation_p.V3147F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3101F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2882							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)			CGGATGCGAACATCTCTGCCT	0.403000													19	92					3.51602e-12	4.87654e-12	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38793729	38793729	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:38793729G>C	ENST00000449082.2	-	11	1735	c.1736C>G	c.(1735-1737)cCt>cGt	p.P579R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	579					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)	GACAGCTCCAGGGGCAAGCTC	0.562000													10	60					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29407903	29407903	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29407903C>G	ENST00000444197.2	+	1	821	c.111C>G	c.(109-111)acC>acG	p.T37T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCTGCTGACCGTGGCAGGCA	0.557000													21	92					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377561	77377561	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:77377561G>T	ENST00000451710.3	-	26	4263	c.4026C>A	c.(4024-4026)ggC>ggA	p.G1342G	TRPM6_ENST00000376864.4_Silent_p.G1342G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.G1337G|TRPM6_ENST00000360774.1_Silent_p.G1342G|TRPM6_ENST00000449912.2_Silent_p.G1337G			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1342					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAAGAAACTGGCCATACTTTG	0.468000													108	129					8.05857e-52	1.36147e-51	1	1	0
OPN3	23596	broad.mit.edu	37	1	241767853	241767853	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:241767853C>A	ENST00000366554.2	-	2	508	c.402G>T	c.(400-402)gtG>gtT	p.V134V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	134					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CATAGGCCAGCACGGTTAGGG	0.507000													9	38					1.12685e-05	1.27784e-05	1	1	0
TREML2	79865	broad.mit.edu	37	6	41162343	41162343	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:41162343G>T	ENST00000483722.1	-	3	790	c.605C>A	c.(604-606)cCc>cAc	p.P202H		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	202					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTCCTCCTGGGTCCCTGGCT	0.612000													11	29					0.010729	0.0110806	1	1	0
ZNF623	9831	broad.mit.edu	37	8	144733584	144733584	+	Silent	SNP	C	C	T	rs140630158	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:144733584C>T	ENST00000501748.2	+	1	1631	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	ZNF623_ENST00000458270.2_Silent_p.S474S|ZNF623_ENST00000526926.1_Silent_p.S474S	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGGACTCTCCTTGAGTAAGG	0.408000													28	69					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048551	175048551	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:175048551C>A	ENST00000239462.4	+	3	605	c.492C>A	c.(490-492)ccC>ccA	p.P164P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	164					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)		GGGAGGGCCCCGCCTGCGAGC	0.721000													7	12					0.00307968	0.00322431	1	1	0
STXBP5L	9515	broad.mit.edu	37	3	120941922	120941922	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:120941922G>T	ENST00000273666.6	+	11	1300	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	STXBP5L_ENST00000472879.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.M343I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	343					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAACCATCATGCATGGAAAAG	0.353000													16	53					1.99824e-07	2.42226e-07	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118219356	118219356	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:118219356G>C	ENST00000402510.2	-	12	4837	c.4838C>G	c.(4837-4839)cCt>cGt	p.P1613R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1613										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						CTCATATTTAGGCTCCTTAGT	0.448000													56	104					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247608040	247608040	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247608040G>T	ENST00000366497.2	+	8	3537	c.2757G>T	c.(2755-2757)ctG>ctT	p.L919L	NLRP3_ENST00000366496.2_Silent_p.L919L|NLRP3_ENST00000348069.2_Silent_p.L862L|NLRP3_ENST00000391827.2_Silent_p.L919L|NLRP3_ENST00000391828.3_Silent_p.L976L|NLRP3_ENST00000336119.3_Silent_p.L976L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	976					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCTGAGCCTGGGCAACAATG	0.562000													20	41					2.94398e-08	3.65598e-08	1	1	0
OR13F1	138805	broad.mit.edu	37	9	107267257	107267257	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:107267257T>C	ENST00000334726.2	+	1	803	c.714T>C	c.(712-714)ttT>ttC	p.F238F		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTAAAGCCTTTTCAACGTGCA	0.478000													11	131					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796295	11796295	+	RNA	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:11796295A>T	ENST00000344893.3	+	0	2294					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CGAAATCATGAAAACACTCAC	0.368000													8	22					0	0	1	0	0
FAM3A	60343	broad.mit.edu	37	X	153741192	153741192	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153741192C>A	ENST00000434658.2	-	2	551	c.82G>T	c.(82-84)Ggt>Tgt	p.G28C	FAM3A_ENST00000393572.1_Intron|FAM3A_ENST00000359889.5_Missense_Mutation_p.G28C|FAM3A_ENST00000369641.3_Missense_Mutation_p.G28C|FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000447601.2_Missense_Mutation_p.G28C|FAM3A_ENST00000369643.1_Missense_Mutation_p.G28C	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	28						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGCCCACCCAGGAGGATG	0.612000													22	88					6.32553e-13	8.89467e-13	1	1	0
RPSAP58	388524	broad.mit.edu	37	19	24010579	24010579	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:24010579G>C	ENST00000496398.1	+	4	1039	c.616G>C	c.(616-618)Gat>Cat	p.D206H	RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.D206H																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCTACAGAGATCCTGAAGA	0.522000													4	17					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15885231	15885231	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:15885231G>T	ENST00000277632.3	-	3	435	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	72					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCGCCAAGAAGACTTCTCCGA	0.333000													5	61					3.59834e-05	4.03049e-05	1	1	0
CDH12	1010	broad.mit.edu	37	5	21755700	21755700	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:21755700C>T	ENST00000382254.1	-	14	2971	c.1885_splice	c.e14+1	p.A629_splice	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Splice_Site_p.A629_splice|CDH12_ENST00000522262.1_Splice_Site_p.A589_splice	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	629					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGAAACCAACCTAAGAGTATA	0.383000										HNSCC(59;0.17)			3	25					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832871	61832871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:61832871C>A	ENST00000280772.1	-	37	7959	c.7768G>T	c.(7768-7770)Gaa>Taa	p.E2590*	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)	2590					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						TGTGACACTTCAGTCAGTTTT	0.418000													13	59					4.3838e-07	5.24449e-07	1	1	0
ELMO2	63916	broad.mit.edu	37	20	45021779	45021779	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:45021779G>A	ENST00000290246.6	-	6	390	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	ELMO2_ENST00000439931.2_Missense_Mutation_p.R66C|ELMO2_ENST00000396391.1_Missense_Mutation_p.R66C|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.R66C|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000372176.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	66					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATGTCACTGCGAGTCTGGGTA	0.338000													4	50					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143391	56143391	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56143391G>T	ENST00000302270.1	+	1	292	c.292G>T	c.(292-294)Gct>Tct	p.A98S		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)					TGATGCATGTGCTACTCAACT	0.408000													34	88					4.34311e-12	5.97831e-12	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22951156	22951156	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:22951156C>A	ENST00000397104.3	-	3	239	c.240G>T	c.(238-240)ggG>ggT	p.G80G	ZNF99_ENST00000596209.1_Silent_p.G59G					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGCTCTTTCCCTTGCTTCA	0.368000													8	20					1.76689e-08	2.20922e-08	1	1	0
SEC11C	90701	broad.mit.edu	37	18	56825879	56825879	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:56825879G>C	ENST00000587834.1	+	6	1013	c.541G>C	c.(541-543)Gta>Cta	p.V181L	SEC11C_ENST00000588875.1_Silent_p.L161L	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	181					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TCTTTTGGCTGTAATGGGTGC	0.348000													8	41					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78305432	78305432	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:78305432C>A	ENST00000409931.3	-	9	2074	c.2003G>T	c.(2002-2004)cGt>cTt	p.R668L	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R668L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	668	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CACCTTGGAACGGTGCTCGTG	0.532000													14	39					7.93312e-07	9.41672e-07	1	1	0
SAAL1	113174	broad.mit.edu	37	11	18103051	18103051	+	Splice_Site	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:18103051C>G	ENST00000524803.1	-	11	1289		c.e11-1		SAAL1_ENST00000529318.1_Splice_Site|SAAL1_ENST00000300013.4_Splice_Site			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1						acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						CCACCGTCTCCTAAAACAACA	0.378000													10	30					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904343	144904343	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:144904343G>C	ENST00000370490.1	+	1	4655	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	SLITRK2_ENST00000434188.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E134Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	134						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAGGCCTGGAGAGCCTGGA	0.498000													36	66					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247608042	247608042	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247608042G>T	ENST00000366497.2	+	8	3539	c.2759G>T	c.(2758-2760)gGc>gTc	p.G920V	NLRP3_ENST00000366496.2_Missense_Mutation_p.G920V|NLRP3_ENST00000348069.2_Missense_Mutation_p.G863V|NLRP3_ENST00000391827.2_Missense_Mutation_p.G920V|NLRP3_ENST00000391828.3_Missense_Mutation_p.G977V|NLRP3_ENST00000336119.3_Missense_Mutation_p.G977V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	977					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGAGCCTGGGCAACAATGAC	0.557000													19	39					6.94344e-10	9.01464e-10	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42355882	42355882	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:42355882G>A	ENST00000554171.1	+	5	2486	c.54G>A	c.(52-54)caG>caA	p.Q18Q	LRFN5_ENST00000554120.1_Silent_p.Q18Q|LRFN5_ENST00000298119.4_Silent_p.Q18Q			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	18	LRRNT.					integral to membrane		p.Q18Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAAAGCTCAGATCTGTCCAA	0.383000										HNSCC(30;0.082)			7	36					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61577807	61577807	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:61577807T>C	ENST00000398571.2	-	11	1349	c.1273A>G	c.(1273-1275)Ata>Gta	p.I425V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	425					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGTCATGTATATACCGACTA	0.348000													9	59					0	0	1	0	0
CASC10	399726	broad.mit.edu	37	10	21784749	21784749	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:21784749C>A	ENST00000377113.5	-	2	638	c.191G>T	c.(190-192)cGg>cTg	p.R64L		NM_001010911.2	NP_001010911.1			cancer susceptibility candidate 10																		GAGTCGGGTCCGCGCAGCGGC	0.766000											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0.0293803	0.0298043	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242814994	242814994	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:242814994C>A	ENST00000343216.3	+	2	1315	c.1287C>A	c.(1285-1287)gtC>gtA	p.V429V		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	429						integral to membrane											CTGCTGATGTCCAAGGCAAAG	0.632000													9	38					0.000442599	0.000478175	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78973610	78973610	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:78973610C>G	ENST00000545128.1	+	37	5893	c.5355C>G	c.(5353-5355)ccC>ccG	p.P1785P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	602					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						TGGCCGACCCCAACAAGTCTT	0.532000													14	110					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820763	10820763	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:10820763T>C	ENST00000526148.1	-	20	3043	c.2533A>G	c.(2533-2535)Aaa>Gaa	p.K845E	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.K845E|EIF4G2_ENST00000396525.2_Missense_Mutation_p.K807E|EIF4G2_ENST00000339995.5_Missense_Mutation_p.K845E	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	845	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCTCACCTTTTGGGAAGTTG	0.373000													25	52					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98165008	98165008	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:98165008C>A	ENST00000357947.3	-	10	1473	c.1248G>T	c.(1246-1248)tgG>tgT	p.W416C	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	416	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGGCTTTTCTCCAGTAACCAT	0.453000													21	90					5.26018e-13	7.43092e-13	1	1	0
TMC3	342125	broad.mit.edu	37	15	81625254	81625254	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:81625254G>C	ENST00000558726.1	-	22	2947	c.2812C>G	c.(2812-2814)Ccc>Gcc	p.P938A	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.P937A|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	937						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGTGGGGAGGGAGGCTGGCGG	0.577000													12	37					0	0	1	0	0
RPF1	80135	broad.mit.edu	37	1	84946695	84946695	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:84946695G>A	ENST00000370654.5	+	2	300	c.285_splice	c.e2+1	p.K95_splice	RPF1_ENST00000370656.1_Splice_Site_p.K95_splice	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	95					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTGGCGATAAGGTAAATAAAA	0.289000													18	52					0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31737633	31737633	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:31737633C>T	ENST00000215919.3	-	3	1545	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	PATZ1_ENST00000266269.5_Intron|PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000351933.4_Intron	NM_032051.1	NP_114440.1	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGAAGAGGTTCCAGGGGCGGC	0.622000													20	64					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347383	89347383	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:89347383C>A	ENST00000301030.4	-	9	6027	c.5567G>T	c.(5566-5568)gGc>gTc	p.G1856V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1856V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1856	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGACGGGAGGCCATAGTCTGG	0.617000													12	45					1.08611e-07	1.3307e-07	1	1	0
CHD7	55636	broad.mit.edu	37	8	61748739	61748739	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:61748739G>C	ENST00000423902.2	+	16	4365	c.3886G>C	c.(3886-3888)Gac>Cac	p.D1296H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1296	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGTGCTGATTGACAAGCTGCT	0.473000													16	24					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653583	110653583	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:110653583G>A	ENST00000338081.3	-	2	458	c.287C>T	c.(286-288)tCc>tTc	p.S96F	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.S15F|DCX_ENST00000371993.2_Missense_Mutation_p.S15F|DCX_ENST00000356915.2_Missense_Mutation_p.S15F|DCX_ENST00000356220.3_Missense_Mutation_p.S15F	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	96					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CATGTTCCTGGATGTCTTATC	0.517000													27	75					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188112	57188112	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:57188112G>T	ENST00000331162.4	-	5	1280	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAGGTTTGAGGACCAGCTAAA	0.448000													5	16					8.12818e-05	8.96159e-05	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75038606	75038606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:75038606C>A	ENST00000326665.5	-	14	3006	c.2788G>T	c.(2788-2790)Gag>Tag	p.E930*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	930	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCCTCTCCCTCCTCCGATGTC	0.552000													31	117					1.06801e-11	1.45696e-11	1	1	0
ZNF701	55762	broad.mit.edu	37	19	53086179	53086179	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53086179G>T	ENST00000540331.1	+	5	1290	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.K289N|ZNF701_ENST00000301093.2_Missense_Mutation_p.K355N	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TAGTTCACAAGGCAATTCATA	0.413000													8	43					9.70103e-10	1.25769e-09	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113812446	113812446	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113812446C>A	ENST00000297405.5	-	13	2161	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	CSMD3_ENST00000352409.3_Silent_p.L639L|CSMD3_ENST00000343508.3_Silent_p.L599L|CSMD3_ENST00000455883.2_Silent_p.L535L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	639	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGAAGGTGCAGCCACATTT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	61					6.84511e-11	9.10689e-11	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13752341	13752341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:13752341C>A	ENST00000265104.4	-	64	11034	c.10930G>T	c.(10930-10932)Gga>Tga	p.G3644*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3644	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGCCTTCCAAGAGAAAGG	0.403000									Kartagener syndrome				15	118					1.5739e-10	2.07283e-10	1	1	0
GTF2A1	2957	broad.mit.edu	37	14	81646661	81646661	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:81646661T>A	ENST00000553612.1	-	9	1440	c.1037A>T	c.(1036-1038)aAa>aTa	p.K346I	GTF2A1_ENST00000434192.2_Missense_Mutation_p.K307I	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	346					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CCATTTGTTTTTACTTCTGTG	0.313000													14	84					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190554269	190554269	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:190554269A>G	ENST00000520309.1	+	3	706	c.618A>G	c.(616-618)acA>acG	p.T206T	ANKAR_ENST00000431575.2_Silent_p.T135T|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Silent_p.T206T|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000438402.2_Silent_p.T206T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	206						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTGATATTACAAAGGATCCAG	0.318000													11	55					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177094477	177094477	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:177094477A>T	ENST00000393643.2	+	26	3601	c.3349A>T	c.(3349-3351)Agc>Tgc	p.S1117C	WDR17_ENST00000507824.2_Missense_Mutation_p.S1116C|WDR17_ENST00000280190.4_Missense_Mutation_p.S1141C|WDR17_ENST00000508596.1_Missense_Mutation_p.S1102C	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1141										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGACCTACTGAGCTATATTCG	0.328000													9	9					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233537	21233537	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:21233537G>T	ENST00000233242.1	-	26	6330	c.6203C>A	c.(6202-6204)tCc>tAc	p.S2068Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2068	Heparin-binding.				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)	GAGGTTAATGGAGTGAACATC	0.363000													18	55					4.75885e-15	7.08402e-15	1	1	0
MANEA	79694	broad.mit.edu	37	6	96034606	96034606	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:96034606A>G	ENST00000358812.4	+	2	425	c.291A>G	c.(289-291)ccA>ccG	p.P97P	MANEA_ENST00000369293.1_Silent_p.P97P	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	97	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATGAACTACCACCTCTGAACA	0.328000													13	65					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154179521	154179521	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:154179521G>T	ENST00000336314.4	+	10	1428	c.1404G>T	c.(1402-1404)ctG>ctT	p.L468L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	545	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAAGGGCCTGTCTGCCAGCC	0.592000													6	45					0.0293803	0.0298043	1	1	0
OLFML2B	25903	broad.mit.edu	37	1	161953526	161953526	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:161953526C>T	ENST00000294794.3	-	8	2615	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R732H|OLFML2B_ENST00000367938.1_Missense_Mutation_p.R214H	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	731	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATAGAGCAGGCGGTCCTTGGG	0.537000													40	126					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657113	76657113	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:76657113G>T	ENST00000369950.3	-	14	2151	c.1962C>A	c.(1960-1962)caC>caA	p.H654Q	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	654	SEA 2.				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)				CCAAGACCCCGTGCACAGCCT	0.443000													14	35					2.48551e-13	3.54407e-13	1	1	0
SIGLECL1	284369	broad.mit.edu	37	19	51770669	51770669	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:51770669G>A	ENST00000316401.7	+	5	834	c.453G>A	c.(451-453)gcG>gcA	p.A151A	SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Silent_p.A57A	NM_173635.1	NP_775906.1			SIGLEC family like 1																		AAGCTGCAGCGATCAGAGCAA	0.468000													36	105					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24044921	24044921	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:24044921C>T	ENST00000397118.3	-	4	2026	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	JPH4_ENST00000356300.4_Missense_Mutation_p.R375H	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	375					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCGCTGACGGGCAGCACT	0.692000													6	12					0	0	1	0	0
EFNA1	1942	broad.mit.edu	37	1	155106045	155106045	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:155106045G>A	ENST00000368407.3	+	3	972		c.e3+1		EFNA1_ENST00000368406.2_Intron|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1						angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCAAAATCAGTGAGTGTCAG	0.517000													15	66					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33281481	33281481	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:33281481G>A	ENST00000434618.2	-	2	543	c.198C>T	c.(196-198)ctC>ctT	p.L66L	TAPBP_ENST00000489157.1_Silent_p.L66L|TAPBP_ENST00000426633.2_Silent_p.L66L|TAPBP_ENST00000475304.1_Silent_p.L66L|TAPBP_ENST00000456592.2_Silent_p.L66L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	66					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CGTGTACACTGAGATAGAGCT	0.667000													16	44					0	0	1	0	0
KRCC1	51315	broad.mit.edu	37	2	88327946	88327946	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:88327946T>C	ENST00000347055.3	-	4	530	c.137A>G	c.(136-138)tAc>tGc	p.Y46C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	46										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTCTCCTTTGTACCCACAGGT	0.413000													21	36					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111430	142111430	+	RNA	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:142111430T>A	ENST00000390378.1	-	0	305																											CCGAGTCCCCTAGCAACAAGG	0.483000													23	102					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190250738	190250738	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:190250738G>A	ENST00000367462.3	-	3	610	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	FAM5C_ENST00000484105.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		127						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTCTTGATAAGGTTTTCTGTG	0.458000													8	55					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608932	42608932	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:42608932G>C	ENST00000359486.3	-	1	2516	c.2380C>G	c.(2380-2382)Caa>Gaa	p.Q794E	TCF20_ENST00000335626.4_Missense_Mutation_p.Q794E	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	794					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						TCATTGGTTTGACTAACCAAG	0.502000													12	37					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743435	102743435	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:102743435C>T	ENST00000210633.3	+	14	2157	c.2079C>T	c.(2077-2079)tgC>tgT	p.C693C	SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Silent_p.C688C|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	688					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTGGCCTCTGCCTCATCCTGG	0.652000													5	14					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479658	4479658	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:4479658G>T	ENST00000237837.1	-	3	752	c.607C>A	c.(607-609)Ccg>Acg	p.P203T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	203					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CAGGAGGCCGGGGCCGGGGTC	0.706000													15	24					1.15088e-07	1.40254e-07	1	1	0
OR5M9	390162	broad.mit.edu	37	11	56230731	56230731	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56230731G>A	ENST00000279791.1	-	1	146	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GCTGAGGACTGATGCTAATCA	0.448000													13	36					0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71571434	71571434	+	Silent	SNP	G	G	T	rs149616588	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:71571434G>T	ENST00000230053.6	-	4	1512	c.904C>A	c.(904-906)Cgg>Agg	p.R302R	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	302					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTCTCTGTCCGAGTGTGCCAC	0.493000													14	56					1.49906e-05	1.69153e-05	1	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338422	13338422	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:13338422C>A	ENST00000602906.1	+	0	440																				kidney(3)|lung(1)	4						GGAACCATTGCCAAGTTTCGT	0.438000													13	26					4.3838e-07	5.24449e-07	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577057	33577057	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:33577057G>T	ENST00000504830.1	-	19	3409	c.3074C>A	c.(3073-3075)cCt>cAt	p.P1025H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P940H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1025	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTGGATGTAGGTGGAGGGAC	0.537000										HNSCC(64;0.19)			53	96					5.82388e-19	9.24137e-19	1	1	0
TMEM65	157378	broad.mit.edu	37	8	125332407	125332407	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:125332407C>G	ENST00000297632.6	-	6	1075	c.541G>C	c.(541-543)Gct>Cct	p.A181P		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	181						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AACCTGGAAGCCAATGCTTCA	0.368000													39	71					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119621	3119621	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:3119621C>T	ENST00000304094.1	+	1	707	c.707C>T	c.(706-708)gCc>gTc	p.A236V		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGCTCAAGGCCTTCTCCACC	0.478000													40	113					0	0	1	0	0
AC226119.5	0	broad.mit.edu	37	4	3952919	3952919	+	RNA	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:3952919G>A	ENST00000281228.8	-	0	188				FAM86EP_ENST00000313946.8_RNA																							GACGGCGGGTGCTTCACACAC	0.527000													10	52					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181196	19181196	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:19181196G>A	ENST00000375371.3	-	3	789	c.768C>T	c.(766-768)cgC>cgT	p.R256R	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	256					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGTCACCAGGCGCTGGCGCT	0.637000													8	23					0	0	1	0	0
ATP6V1D	51382	broad.mit.edu	37	14	67812559	67812559	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:67812559C>G	ENST00000216442.7	-	6	932	c.382G>C	c.(382-384)Ggg>Cgg	p.G128R	ATP6V1D_ENST00000555474.1_Intron|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.G128R|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.G73R	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	128					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		AACTGTTCCCCACCTCTGGCT	0.408000													5	43					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27686011	27686011	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:27686011C>A	ENST00000374040.3	-	17	2558	c.2298G>T	c.(2296-2298)ggG>ggT	p.G766G	MAP3K6_ENST00000493901.1_Silent_p.G774G|MAP3K6_ENST00000357582.2_Silent_p.G774G			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	774	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCACATTGTCCCCCTGATTGA	0.567000													9	42					2.74318e-10	3.59207e-10	1	1	0
SRPX2	27286	broad.mit.edu	37	X	99917255	99917255	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:99917255C>T	ENST00000373004.3	+	4	674	c.246C>T	c.(244-246)agC>agT	p.S82S		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	82	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATCACAGCAGCCTGGGCACGC	0.522000													24	65					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113237019	113237019	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113237019G>A	ENST00000297405.5	-	71	11349	c.11105C>T	c.(11104-11106)aCg>aTg	p.T3702M	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3632M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3662M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3533M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3702						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGCAAACCGTGTTCAAGTT	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			57	130					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502751	20502751	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20502751T>C	ENST00000315693.2	-	1	168	c.167A>G	c.(166-168)cAc>cGc	p.H56R		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	56					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)		CATTGGTGTGTGAAGGAGCGA	0.438000													11	45					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16351351	16351351	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:16351351C>T	ENST00000375692.1	+	5	451	c.323C>T	c.(322-324)tCa>tTa	p.S108L	CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S108L|CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S108L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	108					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCTTTCTCCTCAGGCTTCTCC	0.607000													15	38					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50746062	50746062	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:50746062A>T	ENST00000300589.2	+	4	2345	c.2240A>T	c.(2239-2241)tAc>tTc	p.Y747F		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	747					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGGAGCCTGTACGAGATGCAG	0.622000													32	43					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20180737	20180737	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:20180737C>A	ENST00000524983.2	-	2	757	c.469_splice	c.e2+1	p.A157_splice	DBX1_ENST00000227256.3_Splice_Site_p.A157_splice			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	157					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CGAGACCTACCTGGGAAATAA	0.612000													12	65					1.08611e-07	1.3307e-07	1	1	0
LOC283683	283683	broad.mit.edu	37	15	23108851	23108851	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23108851C>A	ENST00000557922.1	-	0	278					NR_040057.1																						TCATTCAGATCTTCTTTCTTT	0.408000													9	34					1.58986e-06	1.87019e-06	1	1	0
C2orf53	339779	broad.mit.edu	37	2	27360866	27360866	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:27360866G>C	ENST00000335524.3	-	3	857	c.332C>G	c.(331-333)tCc>tGc	p.S111C		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	111	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ggagggagaggatgcacgtgg	0.562000													9	18					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876532	35876532	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:35876532G>A	ENST00000303115.3	+	8	1453	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	442					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TACTTCCCTGGGATCAAATCA	0.478000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						8	56					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170222388	170222388	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:170222388C>A	ENST00000518525.1	+	6	881	c.417C>A	c.(415-417)ctC>ctA	p.L139L	GABRP_ENST00000265294.4_Silent_p.L139L|GABRP_ENST00000519598.1_Silent_p.L139L|GABRP_ENST00000519385.1_Silent_p.L139L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	139						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAACAGGCTCATCCGCCTCT	0.572000													16	73					1.5739e-10	2.07283e-10	1	1	0
SLC7A3	84889	broad.mit.edu	37	X	70147853	70147853	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:70147853G>A	ENST00000374299.3	-	6	982	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	SLC7A3_ENST00000298085.4_Missense_Mutation_p.P280S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	280					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAACGCTGGGGATTCTGGGCT	0.527000													9	30					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21137234	21137234	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:21137234C>T	ENST00000602326.1	-	34	5174	c.4591G>A	c.(4591-4593)Gcc>Acc	p.A1531T	EIF4G3_ENST00000536266.1_Missense_Mutation_p.A1129T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A1531T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A1245T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A1525T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A1015T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A1525T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1525	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AACTTACTGGCAGGTTGATCA	0.393000													16	50					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764702	138764702	+	Silent	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:138764702T>G	ENST00000242351.5	-	4	1301	c.985A>C	c.(985-987)Agg>Cgg	p.R329R	ZC3HAV1_ENST00000471652.1_Silent_p.R329R|ZC3HAV1_ENST00000464606.1_Silent_p.R329R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	329					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TCTAAAAACCTCTGGCTTGTC	0.547000													19	58					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200143148	200143148	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:200143148C>T	ENST00000367362.3	+	8	1682	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	NR5A2_ENST00000236914.3_Missense_Mutation_p.A433V|NR5A2_ENST00000544748.1_Missense_Mutation_p.A407V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	479					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CAAGTCAATGCCGCCCTGCTG	0.428000													4	12					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187881	121187881	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:121187881G>T	ENST00000321339.1	+	1	232	c.223G>T	c.(223-225)Gac>Tac	p.D75Y		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	75	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCCACCCCGACTCCGAGGC	0.687000													10	41					2.80697e-09	3.59828e-09	1	1	0
ZFAT	57623	broad.mit.edu	37	8	135649725	135649725	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:135649725C>T	ENST00000520727.1	-	4	690	c.391G>A	c.(391-393)Ggt>Agt	p.G131S	ZFAT_ENST00000520214.1_Missense_Mutation_p.G131S|ZFAT_ENST00000523399.1_Missense_Mutation_p.G143S|ZFAT_ENST00000520356.1_Missense_Mutation_p.G131S|ZFAT_ENST00000429442.2_Missense_Mutation_p.G131S|ZFAT_ENST00000377838.3_Missense_Mutation_p.G143S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCTCCTCACCCAAATTCAGC	0.502000													30	98					0	0	1	0	0
IGLC7	28834	broad.mit.edu	37	22	23264942	23264942	+	RNA	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:23264942A>T	ENST00000390331.1	+	0	177																											CAAACCCTCCAAACAAAGCAA	0.597000													14	50					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149189	70149189	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70149189A>G	ENST00000550536.1	+	2	506	c.49A>G	c.(49-51)Atg>Gtg	p.M17V	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Start_Codon_SNP_p.M1V|RAB3IP_ENST00000378815.6_Start_Codon_SNP_p.M1V|RAB3IP_ENST00000362025.5_Missense_Mutation_p.M17V|RAB3IP_ENST00000247833.7_Start_Codon_SNP_p.M1V	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	17					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCTTTTGCTATGGCTAATGA	0.338000													7	43					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017443	101017443	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:101017443C>T	ENST00000537247.1	+	10	1502	c.548C>T	c.(547-549)aCa>aTa	p.T183I	GAS2L3_ENST00000266754.5_Missense_Mutation_p.T287I|GAS2L3_ENST00000539410.1_Missense_Mutation_p.T287I|GAS2L3_ENST00000547754.1_Missense_Mutation_p.T287I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	287					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGTTTGCCACATTAGAACAA	0.403000													14	66					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540364	94540364	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:94540364C>A	ENST00000289495.5	+	1	1155	c.939C>A	c.(937-939)ccC>ccA	p.P313P	PPP1R9A_ENST00000433881.1_Silent_p.P313P|PPP1R9A_ENST00000424654.1_Silent_p.P313P|PPP1R9A_ENST00000340694.4_Silent_p.P313P|PPP1R9A_ENST00000433360.1_Silent_p.P313P|PPP1R9A_ENST00000456331.2_Silent_p.P313P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	313						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AACAGACTCCCGACAGCATTG	0.473000										HNSCC(28;0.073)			10	47					1.76689e-08	2.20922e-08	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248263219	248263219	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248263219C>A	ENST00000366478.2	+	3	879	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	OR2L13_ENST00000358120.2_Missense_Mutation_p.P181Q	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TGCGATGTCCCAGCCATGTTG	0.458000													28	129					2.4375e-19	3.89488e-19	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56466062	56466062	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56466062G>C	ENST00000291971.3	+	3	709	c.638G>C	c.(637-639)gGg>gCg	p.G213A	NLRP8_ENST00000590542.1_Missense_Mutation_p.G213A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	213	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGAGCTCCTGGGATCGGAAAA	0.527000													16	62					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170162575	170162575	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:170162575G>A	ENST00000588451.1	+	9	1043	c.530G>A	c.(529-531)aGg>aAg	p.R177K	C6orf70_ENST00000418781.3_Missense_Mutation_p.R303K|C6orf70_ENST00000366773.3_Missense_Mutation_p.R303K|C6orf70_ENST00000392095.4_Missense_Mutation_p.R177K|C6orf70_ENST00000366772.2_Missense_Mutation_p.R303K			Q5T6L9	CF070_HUMAN		303						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ACTGGACTTAGGAATGTTTTT	0.368000													25	105					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842795	4842795	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:4842795G>C	ENST00000322110.5	+	1	245	c.180G>C	c.(178-180)ctG>ctC	p.L60L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATGATCCTGTTTGTGGTCC	0.483000													53	131					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	132965059	132965059	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:132965059C>A	ENST00000368642.4	-	5	1031		c.e5+1			NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like											cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCGAAACTGACCTTGTCTTCT	0.592000													7	21					3.09899e-07	3.73677e-07	1	1	0
HOXB9	3219	broad.mit.edu	37	17	46700292	46700292	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:46700292C>T	ENST00000311177.5	-	2	930	c.723G>A	c.(721-723)aaG>aaA	p.K241K	HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_3'UTR	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	241					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TATTCATTTTCTTCATTTTCA	0.468000													16	66					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33044860	33044860	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:33044860T>C	ENST00000242209.4	+	10	1779	c.1610T>C	c.(1609-1611)aTt>aCt	p.I537T	FKBP9_ENST00000490776.2_Missense_Mutation_p.I305T|FKBP9_ENST00000538336.1_Missense_Mutation_p.I590T|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.I399T	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	537	EF-hand 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGAGCTGATTGTGAAGAAT	0.498000													13	74					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579947	140579947	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140579947G>C	ENST00000354757.3	+	1	600	c.600G>C	c.(598-600)ctG>ctC	p.L200L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		200	Cadherin 2.				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)			ACAAGGCGCTGGATTATGAAG	0.493000													8	46					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52938504	52938504	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:52938504C>T	ENST00000267119.5	-	9	1453	c.1384G>A	c.(1384-1386)Ggc>Agc	p.G462S		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	462	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TAGACACTGCCGCCACTGGTG	0.642000													8	27					0	0	1	0	0
MOBP	4336	broad.mit.edu	37	3	39543585	39543585	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:39543585G>A	ENST00000311042.6	+	3	174	c.25G>A	c.(25-27)Ggt>Agt	p.G9S	MOBP_ENST00000415443.1_Missense_Mutation_p.G9S|MOBP_ENST00000396228.1_Missense_Mutation_p.G9S|MOBP_ENST00000441980.2_Missense_Mutation_p.G9S|MOBP_ENST00000447324.1_Missense_Mutation_p.G9S|MOBP_ENST00000383754.3_Missense_Mutation_p.G9S|MOBP_ENST00000354668.4_Missense_Mutation_p.G9S|MOBP_ENST00000420739.1_Missense_Mutation_p.G9S|MOBP_ENST00000428261.1_Missense_Mutation_p.G9S	NM_001278322.1	NP_001265251.1	Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	9					nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		GGCCAAGGAGGGTCCCAGACT	0.527000													11	30					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528935	20528935	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20528935C>T	ENST00000315683.1	+	1	732	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGCCCACATCATTGTGGTCA	0.408000													19	104					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57883369	57883369	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:57883369G>C	ENST00000381227.1	+	16	2529	c.2116G>C	c.(2116-2118)Gtc>Ctc	p.V706L	POLR2B_ENST00000431623.2_Missense_Mutation_p.V631L|POLR2B_ENST00000441246.2_Missense_Mutation_p.V699L|POLR2B_ENST00000314595.5_Missense_Mutation_p.V706L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	706					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GATCCTTGGTGTCTGTGCATC	0.383000													45	140					0	0	1	0	0
YWHAH	7533	broad.mit.edu	37	22	32352730	32352730	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:32352730C>T	ENST00000248975.5	+	2	965	c.692C>T	c.(691-693)aCc>aTc	p.T231I	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	231					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GACAACCTCACCCTCTGGACG	0.542000													4	15					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145620155	145620155	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:145620155C>T	ENST00000349769.3	-	30	3450	c.3356G>A	c.(3355-3357)gGc>gAc	p.G1119D		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1119					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCACGTAGCCTTTGAGGCC	0.682000													19	101					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133109139	133109139	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:133109139G>A	ENST00000321871.6	+	5	1776	c.1566G>A	c.(1564-1566)gtG>gtA	p.V522V	TMEM108_ENST00000508711.1_Silent_p.V52V|TMEM108_ENST00000393130.3_Silent_p.V522V	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	522						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCATGCTGTGGAGCTGCCCA	0.542000													13	416					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122930768	122930768	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:122930768G>A	ENST00000395412.1	+	11	1841	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Intron|CSNK1G3_ENST00000395411.1_Silent_p.Q374Q|CSNK1G3_ENST00000361991.2_Silent_p.Q374Q|CSNK1G3_ENST00000360683.2_Silent_p.Q374Q|CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000521364.1_Intron|CSNK1G3_ENST00000511130.2_Intron	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	374					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ACTCCCAGCAGGCAAATCCCC	0.443000													8	31					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63076078	63076078	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:63076078G>T	ENST00000561311.1	+	44	5955	c.5725G>T	c.(5725-5727)Gaa>Taa	p.E1909*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.E1909*|TLN2_ENST00000472902.1_Nonsense_Mutation_p.E302*			Q9Y4G6	TLN2_HUMAN	talin 2	1909					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCCACGGCGGAACCAGAGGA	0.552000													17	72					7.45023e-12	1.02399e-11	1	1	0
RAD17	5884	broad.mit.edu	37	5	68709914	68709914	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:68709914G>T	ENST00000509734.1	+	18	2519	c.1841G>T	c.(1840-1842)gGa>gTa	p.G614V	RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000380774.3_Missense_Mutation_p.G614V|RAD17_ENST00000521422.1_Missense_Mutation_p.G438V|RAD17_ENST00000345306.6_Missense_Mutation_p.G603V|RAD17_ENST00000305138.4_Missense_Mutation_p.G603V|RAD17_ENST00000358030.2_Missense_Mutation_p.G438V|RAD17_ENST00000361732.2_Missense_Mutation_p.G603V|RAD17_ENST00000354312.3_Missense_Mutation_p.G603V|RAD17_ENST00000354868.5_Missense_Mutation_p.G603V|RAD17_ENST00000282891.6_Missense_Mutation_p.G517V			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	614	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCTGACAGCGGAGATGAAGCC	0.488000								Other conserved DNA damage response genes					29	80					5.60225e-13	7.90194e-13	1	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056503	26056503	+	Missense_Mutation	SNP	T	T	C	rs141424312		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:26056503T>C	ENST00000343677.2	-	1	196	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	52	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTACGCTCTTTAGAGGCGGCC	0.557000													38	94					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179622620	179622620	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179622620T>A	ENST00000589042.1	-	45	10551	c.10327A>T	c.(10327-10329)Aca>Tca	p.T3443S	TTN_ENST00000359218.5_Missense_Mutation_p.T3397S|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3146							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)			GAGTTTGATGTATTTTCTTCA	0.403000													17	78					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32780866	32780866	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:32780866G>T	ENST00000537047.1	+	6	549	c.527G>T	c.(526-528)tGa>tTa	p.*176L	CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.M271I|CCDC7_ENST00000362006.5_Missense_Mutation_p.M271I|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000489718.1_3'UTR			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	0										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				CTCATTCAATGACTAATCGAT	0.259000													6	55					2.0095e-06	2.3487e-06	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63256868	63256868	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:63256868G>C	ENST00000323865.3	-	1	912	c.679C>G	c.(679-681)Cgc>Ggc	p.R227G	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	227					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACCGTCTTGCGGATGCGGAAG	0.582000													23	107					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A	rs144618782	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1																						CTGTGGGAGGGGGGAATGTTC	0.622000													4	22					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6643193	6643193	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:6643193G>A	ENST00000299441.3	-	21	10125	c.9714C>T	c.(9712-9714)ccC>ccT	p.P3238P	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3238					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCTGATGGGGGAGCGGT	0.632000													8	31					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81839411	81839411	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:81839411G>A	ENST00000550584.2	-	5	789	c.494C>T	c.(493-495)tCa>tTa	p.S165L	PPFIA2_ENST00000548586.1_Missense_Mutation_p.S165L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S91L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S165L|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S147L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S91L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S165L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S147L|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S12L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	91										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGATACTCCTGAGGGAGACTG	0.433000													9	34					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713236	142713236	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:142713236C>A	ENST00000369381.2	-	0	1369																											TTATCTTCTGCATTTTCATAC	0.388000													15	43					6.72482e-11	8.9599e-11	1	1	0
PRKCA	5578	broad.mit.edu	37	17	64785040	64785040	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:64785040G>A	ENST00000413366.3	+	16	1823	c.1797G>A	c.(1795-1797)agG>agA	p.R599R		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	599	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.R599I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TCTTCCGGAGGATCGACTGGG	0.567000													10	50					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64239253	64239253	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:64239253G>T	ENST00000262150.2	-	2	481	c.189C>A	c.(187-189)atC>atA	p.I63I	CDH19_ENST00000540086.1_Silent_p.I63I	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	63	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTACCTGGCCGATGTGATGAC	0.373000													6	27					2.7689e-08	3.45734e-08	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113966957	113966957	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113966957A>T	ENST00000297405.5	-	8	1620	c.1376T>A	c.(1375-1377)tTt>tAt	p.F459Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.F459Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.F419Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.F355Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	459						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACAATTTAAATCCTCTAGA	0.303000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	37					0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244574618	244574618	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:244574618C>A	ENST00000366535.3	-	12	1605	c.1289G>T	c.(1288-1290)cGa>cTa	p.R430L		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	430					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	p.R430Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTCAATAAATCGAACATAGTT	0.318000													12	36					5.50884e-06	6.29385e-06	1	1	0
POU3F3	5455	broad.mit.edu	37	2	105473259	105473259	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:105473259C>A	ENST00000361360.2	+	1	1291	c.1291C>A	c.(1291-1293)Ccc>Acc	p.P431T	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	431					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTGCCCCAAGCCCTCCGCGCA	0.642000													13	29					0.00136819	0.00144905	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34076814	34076814	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:34076814G>A	ENST00000373381.4	-	41	6346	c.6170C>T	c.(6169-6171)cCc>cTc	p.P2057L	CSMD2_ENST00000373380.1_Missense_Mutation_p.P930L|CSMD2_ENST00000373388.2_Missense_Mutation_p.P156L|CSMD2_ENST00000373377.1_Missense_Mutation_p.P156L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2017	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCGTGGTTGGGCTCGGTGGA	0.562000													10	41					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178391743	178391743	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:178391743G>T	ENST00000320129.3	+	5	641	c.338G>T	c.(337-339)aGa>aTa	p.R113I	ZNF454_ENST00000519564.1_Missense_Mutation_p.R113I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATAAAGGAAAGATTCAGTAGC	0.468000													12	37					3.07112e-06	3.55317e-06	1	1	0
ZNF667	63934	broad.mit.edu	37	19	56953128	56953128	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56953128C>A	ENST00000504904.3	-	7	1955	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	ZNF667_ENST00000342634.3_Missense_Mutation_p.K540N|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.K412N			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CAAATAGTTTCTTTTTCTTTG	0.333000													7	28					0.00198382	0.00209136	1	1	0
NCOR1P1	149934	broad.mit.edu	37	20	26084222	26084222	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:26084222G>T	ENST00000478176.1	-	0	235					NR_003678.1																						TGAAAGTTTTGAAGGTGAAGC	0.388000													4	26					0.014758	0.0151389	1	1	0
CREB3L3	84699	broad.mit.edu	37	19	4168375	4168375	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:4168375C>T	ENST00000078445.2	+	6	889	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.R246C|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R247C|CREB3L3_ENST00000252587.3_Missense_Mutation_p.R188C	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	248					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAAAAAATCCGCCGGAAAAT	0.552000													12	37					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210479	35210479	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:35210479G>T	ENST00000274938.7	+	14	1615	c.1615G>T	c.(1615-1617)Gcc>Tcc	p.A539S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.A555S	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	539					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GGGCCGACGGGCCCGGACCCC	0.622000													36	104					1.03484e-13	1.49422e-13	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503477	140503477	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140503477G>T	ENST00000194152.1	+	1	1897	c.1897G>T	c.(1897-1899)Gac>Tac	p.D633Y		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGAGCGCGACGCAGCCAA	0.682000													26	62					1.17739e-12	1.65052e-12	1	1	0
MMP14	4323	broad.mit.edu	37	14	23311709	23311709	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:23311709G>T	ENST00000311852.6	+	4	732	c.471G>T	c.(469-471)ctG>ctT	p.L157L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	157						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCACACCACTGCGCTTCCGCG	0.602000													6	50					0.00116845	0.00124037	1	1	0
FAR1	84188	broad.mit.edu	37	11	13733495	13733495	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:13733495A>T	ENST00000354817.3	+	7	933	c.789A>T	c.(787-789)cgA>cgT	p.R263R	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	263					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAATTCTTCGAACAATACGTG	0.373000													8	27					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238642432	238642432	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:238642432A>G	ENST00000308482.9	+	9	529	c.460A>G	c.(460-462)Agc>Ggc	p.S154G	LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTGTCTGTACAGCGCTGCCCG	0.582000													14	59					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594863	41594863	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:41594863C>T	ENST00000330436.3	+	2	210	c.210C>T	c.(208-210)acC>acT	p.T70T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	70					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTGTGTTCACCATTCACTTGG	0.627000													29	76					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29890206	29890206	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:29890206C>A	ENST00000399218.4	-	3	398	c.343G>T	c.(343-345)Gca>Tca	p.A115S	GAREM_ENST00000269209.6_Missense_Mutation_p.A115S|GAREM_ENST00000578619.1_5'UTR	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		TCAGGAAATGCCTTAGCCACC	0.413000													31	91					3.03874e-20	4.90708e-20	1	1	0
METTL17	64745	broad.mit.edu	37	14	21463373	21463373	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:21463373C>T	ENST00000339374.6	+	10	1159	c.926C>T	c.(925-927)gCc>gTc	p.A309V	METTL17_ENST00000556670.2_Missense_Mutation_p.A309V|METTL17_ENST00000382985.4_Missense_Mutation_p.A309V	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	309					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTCATGGATGCCAGGGATCTG	0.453000													28	135					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71418708	71418708	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:71418708C>A	ENST00000356595.4	-	4	1349	c.1139G>T	c.(1138-1140)aGg>aTg	p.R380M	PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TGcagttgccctctgtatctg	0.353000													32	58					1.08312e-15	1.62824e-15	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53856450	53856450	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53856450G>A	ENST00000458035.1	+	4	2639	c.2522G>A	c.(2521-2523)cGt>cAt	p.R841H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R841H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAGACCTTCCGTCACAATTCA	0.393000													12	52					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44128596	44128596	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:44128596G>T	ENST00000372396.3	+	5	595	c.461G>T	c.(460-462)aGa>aTa	p.R154I	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	154	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GGCCGGCTGAGAACAATCCTG	0.483000													19	77					5.03518e-11	6.76788e-11	1	1	0
ARHGAP27	201176	broad.mit.edu	37	17	43483119	43483119	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:43483119C>A	ENST00000532038.1	-	2	523	c.388G>T	c.(388-390)Gac>Tac	p.D130Y	ARHGAP27_ENST00000528384.1_5'UTR|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000455881.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000376922.2_5'UTR			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	330					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TCGGCCTCGTCCTCCCAGGCC	0.692000													8	16					0.00307968	0.00322431	1	1	0
ZNF429	353088	broad.mit.edu	37	19	21720496	21720496	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:21720496C>G	ENST00000358491.4	+	4	1849	c.1641C>G	c.(1639-1641)aaC>aaG	p.N547K	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGCTTTTAACCGGTCCTCAA	0.373000													15	34					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640371	104640371	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:104640371G>C	ENST00000304883.2	-	1	602	c.462C>G	c.(460-462)ggC>ggG	p.G154G		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	154						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)		AGTAGTTGGCGCCAAAGTACC	0.537000													19	34					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426819	10426819	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:10426819C>T	ENST00000245503.5	-	37	5850	c.5466G>A	c.(5464-5466)gaG>gaA	p.E1822E	MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.E1822E|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1822					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCACCCTGGCCTCCAGTTTCT	0.512000													31	100					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910545	132910545	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:132910545C>A	ENST00000258034.2	-	1	332	c.281G>T	c.(280-282)cGc>cTc	p.R94L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	94					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CTCCACTGAGCGAATGGTGCT	0.587000													47	99					5.78141e-17	8.91098e-17	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504192	70504192	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:70504192T>A	ENST00000310961.5	+	22	3004	c.2586T>A	c.(2584-2586)gcT>gcA	p.A862A	LRRC7_ENST00000035383.5_Silent_p.A857A|LRRC7_ENST00000415775.2_Silent_p.A141A			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	857						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGACCGCTTTTCCTTCCA	0.463000													27	76					0	0	1	0	0
FAM122A	116224	broad.mit.edu	37	9	71395143	71395143	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:71395143G>C	ENST00000394264.3	+	1	180	c.63G>C	c.(61-63)gcG>gcC	p.A21A	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	21										endometrium(1)|lung(2)	3						GGAGCCCGGCGGAGGGCGGTG	0.721000													14	19					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553629	19553629	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:19553629G>T	ENST00000409832.3	+	1	265	c.213G>T	c.(211-213)tgG>tgT	p.W71C		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	71										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTTCCCCTGGTGCAGGGGGA	0.587000													207	980					4.3601e-43	7.35263e-43	1	1	0
RYR2	6262	broad.mit.edu	37	1	237540622	237540622	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:237540622G>A	ENST00000366574.2	+	8	780		c.e8-1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATATCTGCAGGGGAGGCTTG	0.423000													5	26					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164341	150164341	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:150164341C>T	ENST00000307271.3	+	2	1129	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	185						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTTGGAGCTCCTTCGCAAGG	0.433000													18	81					0	0	1	0	0
ORM2	5005	broad.mit.edu	37	9	117092820	117092820	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:117092820C>G	ENST00000431067.2	+	2	257	c.221C>G	c.(220-222)aCa>aGa	p.T74R	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1			orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				CCCAACAAGACAGAGGACACG	0.512000													43	49					0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29509320	29509320	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:29509320C>A	ENST00000360150.4	-	8	642	c.567G>T	c.(565-567)gtG>gtT	p.V189V		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	189					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	CATACTTGCCCACTGTTATGT	0.388000													16	70					8.34094e-07	9.86237e-07	1	1	0
AGPS	8540	broad.mit.edu	37	2	178285020	178285020	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:178285020G>T	ENST00000264167.4	+	2	430	c.284G>T	c.(283-285)gGa>gTa	p.G95V	AGPS_ENST00000409888.1_Missense_Mutation_p.G95V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	95					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AAATGGAATGGATGGGGATAT	0.318000													18	58					1.22574e-08	1.54741e-08	1	1	0
ZNF28	7576	broad.mit.edu	37	19	53311383	53311383	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53311383G>C	ENST00000457749.2	-	3	138	c.19C>G	c.(19-21)Cta>Gta	p.L7V	ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000594602.1_Missense_Mutation_p.L7V|ZNF28_ENST00000339844.6_5'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AATGTCAATAGACCCTGAAAT	0.438000													27	104					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175965	159175965	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:159175965C>T	ENST00000537147.1	+	3	1579	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	DARC_ENST00000368121.2_Silent_p.L248L|DARC_ENST00000368122.2_Silent_p.L246L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	246					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GATGAATATCCTGTGGGCCTG	0.532000													15	113					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248020654	248020654	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248020654T>A	ENST00000366481.3	+	1	154	c.106T>A	c.(106-108)Tgc>Agc	p.C36S		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	36						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCACAGCTTCTGCCTCAGGTG	0.726000													4	19					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107688452	107688452	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:107688452G>T	ENST00000388781.3	-	28	4310	c.4227C>A	c.(4225-4227)caC>caA	p.H1409Q	LAMB4_ENST00000388780.3_Missense_Mutation_p.H1409Q|LAMB4_ENST00000205386.4_Missense_Mutation_p.H1409Q	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1409	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAGGGAGCCGTGACAGCCGG	0.562000													26	72					3.28513e-13	4.66243e-13	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31325740	31325740	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:31325740T>C	ENST00000269197.5	+	12	5928	c.5928T>C	c.(5926-5928)agT>agC	p.S1976S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1976					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGAGGTTAGTCTTTCCTCAG	0.507000													26	98					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209307155	209307155	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:209307155G>A	ENST00000272847.2	+	5	691	c.478G>A	c.(478-480)Gct>Act	p.A160T	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	160						integral to plasma membrane	parathyroid hormone receptor activity	p.A160S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGGTTCCTTGGCTGTGGCTAT	0.448000													14	147					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42042113	42042113	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:42042113A>C	ENST00000219905.7	+	17	6489	c.6308A>C	c.(6307-6309)aAa>aCa	p.K2103T	MGA_ENST00000389936.4_Missense_Mutation_p.K2064T|MGA_ENST00000566586.1_Missense_Mutation_p.K1894T|MGA_ENST00000570161.1_Missense_Mutation_p.K2103T|MGA_ENST00000545763.1_Missense_Mutation_p.K1894T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2064						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATTTAAGTAAAGTACAGCAT	0.388000													11	36					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196737029	196737029	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:196737029G>C	ENST00000312428.6	-	40	6678	c.6578C>G	c.(6577-6579)tCa>tGa	p.S2193*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2193					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCTGGTCTTGACAAACAAAC	0.378000													16	58					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71542499	71542499	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:71542499C>T	ENST00000370920.3	-	4	581	c.280G>A	c.(280-282)Gct>Act	p.A94T	ZRANB2_ENST00000254821.6_Missense_Mutation_p.A94T	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	94					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTAATTTAGCATACTTTGGA	0.299000													8	45					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89989858	89989858	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:89989858G>A	ENST00000405460.2	+	33	7381	c.7285G>A	c.(7285-7287)Gtc>Atc	p.V2429I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2429					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)		TTGGATGAATGTCTCTGCCGT	0.498000													5	14					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108492688	108492688	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:108492688G>T	ENST00000368986.4	+	2	760	c.52G>T	c.(52-54)Gtg>Ttg	p.V18L	NR2E1_ENST00000368983.3_Missense_Mutation_p.V55L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	18					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCCCTGCAAAGTGTGTGGCGA	0.577000													38	159					1.59361e-14	2.3455e-14	1	1	0
TG	7038	broad.mit.edu	37	8	133909916	133909916	+	Silent	SNP	C	C	G	rs143929015		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:133909916C>G	ENST00000220616.4	+	12	3064	c.3024C>G	c.(3022-3024)cgC>cgG	p.R1008R	TG_ENST00000377869.1_Silent_p.R1008R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1008	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCAGAGACGCCGCTTTTCCC	0.567000													48	266					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57158574	57158574	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:57158574C>G	ENST00000376149.3	-	6	819	c.10G>C	c.(10-12)Gga>Cga	p.G4R	TRIM37_ENST00000262294.7_Missense_Mutation_p.G126R|TRIM37_ENST00000393066.3_Missense_Mutation_p.G126R|TRIM37_ENST00000393065.2_Missense_Mutation_p.G92R			O94972	TRI37_HUMAN	tripartite motif containing 37	126						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAGGTATGTCCGCCATGCTAT	0.383000									Mulibrey Nanism				25	69					0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797870	31797870	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:31797870C>A	ENST00000390690.2	-	1	416	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	121						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GATCCACAGCCCAGTGAGGAG	0.493000													9	21					3.86212e-05	4.32066e-05	1	1	0
AGMO	392636	broad.mit.edu	37	7	15425169	15425169	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:15425169G>T	ENST00000342526.3	-	10	1145	c.976C>A	c.(976-978)Ccc>Acc	p.P326T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	326					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GATGAGAAGGGAACTTCTTTG	0.368000													19	39					1.01871e-10	1.35138e-10	1	1	0
DHRS7C	201140	broad.mit.edu	37	17	9674818	9674818	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:9674818G>T	ENST00000330255.4	-	6	938	c.926C>A	c.(925-927)cCg>cAg	p.P309Q	DHRS7C_ENST00000571134.1_Missense_Mutation_p.P308Q	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	309						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCCCTCCTCCGGGACATTGAG	0.602000													4	18					0.000602214	0.00064528	1	1	0
DDX52	11056	broad.mit.edu	37	17	35985972	35985972	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:35985972C>A	ENST00000349699.2	-	8	1148	c.1105G>T	c.(1105-1107)Gac>Tac	p.D369Y	DDX52_ENST00000394367.3_Missense_Mutation_p.D261Y	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	369	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ATGACATTGTCCAGGTTGAGT	0.388000													20	65					3.10358e-05	3.48914e-05	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149906880	149906880	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:149906880T>G	ENST00000439741.2	-	5	717	c.468_splice	c.e5+1	p.Q156_splice	MTMR11_ENST00000369140.3_Splice_Site_p.Q84_splice|MTMR11_ENST00000361405.6_Splice_Site_p.Q156_splice|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Splice_Site_p.Q128_splice	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	156							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCCTCTTACCTGAAAAGCCTG	0.532000													9	36					0	0	1	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83347216	83347216	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:83347216T>C	ENST00000295470.5	-	7	1434	c.1259A>G	c.(1258-1260)tAc>tGc	p.Y420C	HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.Y420C|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.Y244C|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.Y301C	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		TCTCCTTTAGTATGGCTGGTA	0.363000													12	61					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66631301	66631301	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:66631301T>C	ENST00000393960.1	-	12	1593	c.1312A>G	c.(1312-1314)Acg>Gcg	p.T438A	PC_ENST00000524491.1_Missense_Mutation_p.T398A|PC_ENST00000355677.3_Missense_Mutation_p.T438A|PC_ENST00000393958.2_Missense_Mutation_p.T438A|PC_ENST00000393955.2_Missense_Mutation_p.T438A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	438	Biotin carboxylation.				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)	GTGGCGGCCGTGGGGTGGTCT	0.647000													37	140					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296315	20296315	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20296315C>A	ENST00000315947.1	+	1	708	c.708C>A	c.(706-708)gcC>gcA	p.A236A	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAACAAGGCCATGTCCACGT	0.507000													61	203					6.176e-18	9.66586e-18	1	1	0
CUX2	23316	broad.mit.edu	37	12	111744752	111744752	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:111744752G>T	ENST00000261726.6	+	11	1040	c.886G>T	c.(886-888)Ggc>Tgc	p.G296C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCTGTGCTCGGGCCCTCGGCT	0.647000													26	96					2.48779e-11	3.37366e-11	1	1	0
SPANXN1	494118	broad.mit.edu	37	X	144337333	144337333	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:144337333G>T	ENST00000370493.3	+	2	977	c.218G>T	c.(217-219)tGa>tTa	p.*73L		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	0										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GACCAGTCCTGAGAGAACTCC	0.423000													17	102					1.45105e-14	2.14605e-14	1	1	0
LMX1B	4010	broad.mit.edu	37	9	129377708	129377708	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:129377708C>T	ENST00000355497.5	+	2	193	c.186C>T	c.(184-186)ccC>ccT	p.P62P	LMX1B_ENST00000561065.1_Silent_p.P39P|LMX1B_ENST00000526117.1_Silent_p.P62P|LMX1B_ENST00000373474.4_Silent_p.P62P|LMX1B_ENST00000425646.2_Silent_p.P39P	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	39	LIM zinc-binding 1.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCCAGCGGCCCATCTCCGACC	0.701000									Nail-Patella Syndrome				21	16					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	946235	946235	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:946235G>C	ENST00000264771.4	+	7	644	c.459G>C	c.(457-459)gtG>gtC	p.V153V	TMEM175_ENST00000515740.1_Silent_p.V37V|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Silent_p.V71V	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	153						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTGGGGTCGTGCAGGTAGGGG	0.532000													25	144					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23612435	23612435	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:23612435C>T	ENST00000415083.2	-	10	1213	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q	SS18_ENST00000269137.7_Silent_p.Q355Q|SS18_ENST00000545952.1_Silent_p.Q303Q|SS18_ENST00000539849.1_Silent_p.Q304Q|SS18_ENST00000542743.1_Silent_p.Q303Q|SS18_ENST00000542420.2_Silent_p.Q363Q	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	386	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATCCTCCATACTGCTGACCTT	0.493000			T	"""SSX1,  SSX2"""	synovial sarcoma								24	75					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													4	23					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811081	23811081	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23811081C>A	ENST00000314520.3	+	1	628	c.152C>A	c.(151-153)gCg>gAg	p.A51E	MKRN3_ENST00000568252.1_Missense_Mutation_p.A51E|MKRN3_ENST00000564592.1_Missense_Mutation_p.A51E	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	51						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGCCACATGCGGCAAGGGGC	0.692000													15	45					1.5739e-10	2.07283e-10	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124293437	124293437	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:124293437C>T	ENST00000409039.3	+	18	2752	c.2727C>T	c.(2725-2727)ccC>ccT	p.P909P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	909	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCTTCATCCCAACACAAATG	0.483000													66	213					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48946544	48946544	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:48946544C>T	ENST00000263269.3	+	13	3449	c.3361C>T	c.(3361-3363)Ctg>Ttg	p.L1121L		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1121						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTCGGAGAGCCTGGGCGGCGC	0.771000													3	12					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165357	151165357	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:151165357C>A	ENST00000282466.3	-	4	2411	c.2412G>T	c.(2410-2412)gaG>gaT	p.E804D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	804					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCATAAATTCCTCATGTAGAG	0.478000													18	88					1.56452e-12	2.18317e-12	1	1	0
PTH2R	5746	broad.mit.edu	37	2	209358198	209358198	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:209358198C>A	ENST00000272847.2	+	13	1680	c.1467C>A	c.(1465-1467)caC>caA	p.H489Q	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	489						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CTGACAGCCACATCACTTTAC	0.577000													14	30					0.000151284	0.000166195	1	1	0
AMPD1	270	broad.mit.edu	37	1	115222277	115222277	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:115222277G>A	ENST00000369538.3	-	6	954	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	AMPD1_ENST00000353928.6_Missense_Mutation_p.H274Y|AMPD1_ENST00000520113.2_Missense_Mutation_p.H307Y	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	274					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	AGCATCTGATGGACCTGGAAC	0.428000													26	88					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127013508	127013508	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:127013508C>T	ENST00000393313.1	-	5	2473	c.1882G>A	c.(1882-1884)Gcc>Acc	p.A628T	ZNF800_ENST00000393312.1_Missense_Mutation_p.A628T|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000265827.3_Missense_Mutation_p.A628T			Q2TB10	ZN800_HUMAN	zinc finger protein 800	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTCTTTTTGGCAAATGCCTTT	0.363000													5	32					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124181457	124181457	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:124181457A>T	ENST00000360013.3	+	25	4129	c.4002A>T	c.(4000-4002)caA>caT	p.Q1334H	KALRN_ENST00000460856.1_Missense_Mutation_p.Q1325H|KALRN_ENST00000240874.3_Missense_Mutation_p.Q1334H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1334	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAACATCCAAGAGATCTACG	0.473000													3	26					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216269248	216269248	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:216269248G>C	ENST00000354785.4	-	20	3486	c.3117C>G	c.(3115-3117)ccC>ccG	p.P1039P	FN1_ENST00000443816.1_Silent_p.P1039P|FN1_ENST00000421182.1_Silent_p.P1039P|FN1_ENST00000356005.4_Silent_p.P1039P|FN1_ENST00000345488.5_Silent_p.P1039P|FN1_ENST00000336916.4_Silent_p.P1039P|FN1_ENST00000346544.3_Silent_p.P1039P|FN1_ENST00000323926.6_Silent_p.P1039P|FN1_ENST00000357867.4_Silent_p.P1039P|FN1_ENST00000446046.1_Silent_p.P1039P|FN1_ENST00000432072.2_Silent_p.P1039P|FN1_ENST00000357009.2_Silent_p.P1039P|FN1_ENST00000359671.1_Silent_p.P1039P			P02751	FINC_HUMAN	fibronectin 1	1039	Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTACTGCCTGGGCTGTCCTC	0.552000													22	56					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76253192	76253192	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:76253192A>G	ENST00000319942.3	+	2	85	c.14A>G	c.(13-15)cAg>cGg	p.Q5R	RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.Q5R	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	5					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GGCACTCCACAGAAGGATGTT	0.378000													18	49					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635323	42635323	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:42635323C>T	ENST00000358131.5	+	3	537	c.329C>T	c.(328-330)cCc>cTc	p.P110L	TOX2_ENST00000341197.3_Missense_Mutation_p.P101L|TOX2_ENST00000423191.1_Missense_Mutation_p.P59L|TOX2_ENST00000372999.1_Missense_Mutation_p.P59L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	110	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCTCACCCCCAACGGTCTG	0.642000													22	48					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152768656	152768656	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:152768656C>A	ENST00000367255.5	-	29	4207	c.3606G>T	c.(3604-3606)aaG>aaT	p.K1202N	SYNE1_ENST00000341594.5_Missense_Mutation_p.K1268N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1209N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1202N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1209N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1202N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1192N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1202N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1202					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCTCCCTGCTTTTGGGCTT	0.458000										HNSCC(10;0.0054)			17	42					0.000422831	0.000459534	1	1	0
SLC4A9	83697	broad.mit.edu	37	5	139741732	139741732	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:139741732C>G	ENST00000230993.6	+	5	799	c.764C>G	c.(763-765)tCc>tGc	p.S255C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.S255C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.S231C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.S231C|SLC4A9_ENST00000506545.1_Missense_Mutation_p.S231C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	255						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTGGGGTCCCTTACTGAG	0.612000													5	17					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128482	83128482	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:83128482G>T	ENST00000329312.4	+	4	803	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	256					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						ACAGTCTGATGATGAATCCAT	0.313000													8	17					0.000157383	0.000171862	1	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75375585	75375585	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:75375585C>A	ENST00000555647.1	-	10	1698	c.1411G>T	c.(1411-1413)Ggg>Tgg	p.G471W	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G471W|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G471W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G440W			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	471	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		AGTAGAGACCCAAAGCTCCAC	0.587000													24	51					1.77063e-15	2.6487e-15	1	1	0
SCTR	6344	broad.mit.edu	37	2	120204416	120204416	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:120204416G>T	ENST00000019103.5	-	11	1326	c.1059C>A	c.(1057-1059)atC>atA	p.I353I		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	353					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CGATGTAGTGGATGCCAAAGA	0.577000													21	106					2.89027e-11	3.90207e-11	1	1	0
IGHV1-2	28474	broad.mit.edu	37	14	106453073	106453073	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:106453073C>A	ENST00000390594.2	-	0	97																											GTGGCTGCTGCCACCAAGAAG	0.547000													33	48					4.74835e-14	6.9329e-14	1	1	0
N4BP1	9683	broad.mit.edu	37	16	48595715	48595715	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:48595715C>G	ENST00000262384.3	-	2	1075	c.839G>C	c.(838-840)aGa>aCa	p.R280T	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	280					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGACAAATTCTCTCATTGGA	0.398000													14	60					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102029073	102029073	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:102029073C>G	ENST00000251127.6	-	6	703	c.622G>C	c.(622-624)Gtt>Ctt	p.V208L	NALCN_ENST00000376200.5_Missense_Mutation_p.V208L|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.V208L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	208						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)					TCATTTACAACACAGTGATAA	0.303000													34	73					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805385	106805385	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:106805385G>T	ENST00000438142.2	-	0	249																											CCTGGGTGCTGGCGGATCCAG	0.562000													29	113					2.4375e-19	3.89488e-19	1	1	0
VN1R4	317703	broad.mit.edu	37	19	53770743	53770743	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53770743C>A	ENST00000311170.4	-	1	229	c.176G>T	c.(175-177)tGt>tTt	p.C59F		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	59					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GACTCCTTTACAGCGGAGAGC	0.458000										HNSCC(26;0.072)			13	34					0.0242445	0.0247316	1	1	0
CGA	1081	broad.mit.edu	37	6	87797907	87797907	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:87797907G>A	ENST00000369582.2	-	2	112	c.12C>T	c.(10-12)taC>taT	p.Y4Y		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	4					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		CATATTTTCTGTAGTAATCCA	0.413000													4	16					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74678452	74678452	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:74678452C>A	ENST00000361070.4	-	5	1071	c.974G>T	c.(973-975)cGa>cTa	p.R325L	RFWD3_ENST00000571750.1_Missense_Mutation_p.R325L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	325					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GGGACATTTTCGTACTTGTCC	0.468000													17	66					1.02788e-11	1.40431e-11	1	1	0
ZNF71	58491	broad.mit.edu	37	19	57132710	57132710	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:57132710G>T	ENST00000328070.6	+	3	289	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	19						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCCGTTGTTGGGGAGGCCAC	0.552000													16	37					4.7546e-09	6.06096e-09	1	1	0
TEX37	200523	broad.mit.edu	37	2	88828736	88828736	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:88828736G>T	ENST00000303254.3	+	4	429	c.287G>T	c.(286-288)aGg>aTg	p.R96M		NM_152670.2	NP_689883.1			testis expressed 37																		GAGGCCACGAGGGAGGACGAG	0.572000													20	111					2.37509e-13	3.40256e-13	1	1	0
DLGAP3	58512	broad.mit.edu	37	1	35334214	35334214	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:35334214G>T	ENST00000373347.1	-	9	2745	c.2477C>A	c.(2476-2478)cCc>cAc	p.P826H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P826H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	826					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)				ACTCTCCTCGGGTAGCTCATA	0.632000													8	46					5.4927e-09	6.9921e-09	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118865682	118865682	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:118865682A>T	ENST00000295622.1	+	1	686	c.646A>T	c.(646-648)Aaa>Taa	p.K216*		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	216										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGATTATCCAAACTATCTGA	0.512000													27	87					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10424617	10424617	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:10424617T>C	ENST00000245503.5	-	40	6190	c.5806A>G	c.(5806-5808)Aaa>Gaa	p.K1936E	MYH2_ENST00000532183.1_Missense_Mutation_p.K703E|MYH2_ENST00000397183.2_Missense_Mutation_p.K1936E|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1936					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTATGACTTTTGTGTGAACC	0.502000													39	107					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20331707	20331707	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:20331707C>T	ENST00000302555.5	-	5	884	c.735G>A	c.(733-735)ttG>ttA	p.L245L	GP2_ENST00000341642.5_Silent_p.L98L|GP2_ENST00000381362.4_Silent_p.L248L|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Silent_p.L101L			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	248	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTCCTCCCCCAAACCCAGGC	0.567000													29	52					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347570	89347570	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:89347570C>A	ENST00000301030.4	-	9	5840	c.5380G>T	c.(5380-5382)Gac>Tac	p.D1794Y	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1794Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1794						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCCTAATGTCGACAGAGACC	0.587000													21	63					5.35356e-11	7.1642e-11	1	1	0
OR14C36	127066	broad.mit.edu	37	1	248512317	248512317	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248512317G>T	ENST00000317861.1	+	1	241	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TACCTCATGTGTCAATTCCCT	0.473000													18	64					5.03518e-11	6.76788e-11	1	1	0
HTN3	3347	broad.mit.edu	37	4	70898910	70898910	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:70898910T>C	ENST00000530128.1	+	5	204	c.129T>C	c.(127-129)taT>taC	p.Y43Y	HTN3_ENST00000526767.1_Silent_p.Y43Y|HTN3_ENST00000381057.3_Silent_p.Y33Y			P15516	HIS3_HUMAN	histatin 3	43		Not sulfated.			biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						ATCGAGGCTATAGATCAAATT	0.363000													17	35					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94761893	94761893	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:94761893C>G	ENST00000397809.5	-	10	1682	c.1133G>C	c.(1132-1134)cGt>cCt	p.R378P	CCDC41_ENST00000339839.5_Missense_Mutation_p.R378P|CCDC41_ENST00000397807.2_Missense_Mutation_p.R345P	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	370										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTGTACTTTACGTATTAATTC	0.333000													7	21					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24484450	24484450	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:24484450A>T	ENST00000355123.4	-	21	2960	c.2517T>A	c.(2515-2517)tcT>tcA	p.S839S	ITSN2_ENST00000361999.3_Silent_p.S812S|ITSN2_ENST00000406921.3_Silent_p.S839S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	839					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGGTAGCAGATAAAGAAA	0.348000													18	70					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357536	112357536	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:112357536C>A	ENST00000206423.3	-	2	2170	c.1217G>T	c.(1216-1218)aGg>aTg	p.R406M	CCDC80_ENST00000439685.2_Missense_Mutation_p.R406M	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	406										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TGAGGGTCTCCTGGCAGTGAT	0.607000													17	50					5.01169e-05	5.57261e-05	1	1	0
ATP11C	286410	broad.mit.edu	37	X	138880488	138880488	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:138880488T>C	ENST00000370557.1	-	10	1828	c.801A>G	c.(799-801)gaA>gaG	p.E267E	ATP11C_ENST00000327569.3_Silent_p.E270E|ATP11C_ENST00000370543.1_Silent_p.E270E|ATP11C_ENST00000361648.2_Silent_p.E270E|ATP11C_ENST00000359686.2_Silent_p.E270E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	270					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CCATTTTGGTTTCCATTCCAG	0.343000													23	58					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443803	158443803	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:158443803G>A	ENST00000243349.7	-	2	560	c.200C>T	c.(199-201)cCa>cTa	p.P67L	ACVR1C_ENST00000348328.5_Missense_Mutation_p.P67L|ACVR1C_ENST00000409680.3_Missense_Mutation_p.P17L|ACVR1C_ENST00000335450.7_Missense_Mutation_p.P67L	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	67					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATTCAGTTCTGGAAGGGAGAC	0.433000													65	182					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56356775	56356775	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:56356775C>A	ENST00000340482.3	-	4	833	c.657G>T	c.(655-657)acG>acT	p.T219T	MPO_ENST00000225275.3_Silent_p.T187T			P05164	PERM_HUMAN	myeloperoxidase	187					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGGCCCCCAGCGTGGGGCTGC	0.706000													8	22					1.58986e-06	1.87019e-06	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139620205	139620205	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:139620205C>T	ENST00000303045.6	-	57	4452	c.4006G>A	c.(4006-4008)Gga>Aga	p.G1336R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1316R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1336	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGCTCTCCTGGAGATCCC	0.517000										HNSCC(7;0.00092)			6	66					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122075564	122075564	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:122075564G>T	ENST00000265922.3	-	2	531	c.70C>A	c.(70-72)Cac>Aac	p.H24N	DBC1_ENST00000373964.2_Missense_Mutation_p.H24N	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		24					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGTTCCTGGTGGGAGGGCTGC	0.512000													37	44					2.75727e-19	4.38286e-19	1	1	0
SESTD1	91404	broad.mit.edu	37	2	180008416	180008416	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:180008416A>T	ENST00000428443.3	-	9	1068	c.752T>A	c.(751-753)tTa>tAa	p.L251*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	251					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGTGAATCTAATAATTTCAT	0.453000													19	77					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124708225	124708225	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:124708225C>A	ENST00000481909.1	-	4	812	c.588G>T	c.(586-588)atG>atT	p.M196I	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	196										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		ACTTTGACCCCATGGACTCCA	0.423000													15	38					1.49906e-05	1.69153e-05	1	1	0
RPP40	10799	broad.mit.edu	37	6	5004205	5004205	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:5004205G>A	ENST00000380051.2	-	1	76	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RPP40_ENST00000319533.5_Missense_Mutation_p.P11L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	11					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TAAGTGCCGCGGCGCCTCCCG	0.672000											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	81					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474617	82474617	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:82474617T>A	ENST00000423517.2	-	13	14353	c.14016A>T	c.(14014-14016)tcA>tcT	p.S4672S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.S4672S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4560					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						TTTTGCTCACTGAGGGGGACC	0.478000													6	32					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578749	169578749	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:169578749G>A	ENST00000263686.6	-	8	1363	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	SELP_ENST00000458599.2_Silent_p.V380V|SELP_ENST00000367794.2_Silent_p.V380V|SELP_ENST00000367786.2_Silent_p.V380V|SELP_ENST00000367792.2_Silent_p.V380V|SELP_ENST00000367793.2_Silent_p.V380V|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Silent_p.V380V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	442	Sushi 4.				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)	TACCTTGACAGACTGGGGCTG	0.488000													10	38					0	0	1	0	0
NDUFB8	4714	broad.mit.edu	37	10	102286236	102286236	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:102286236A>C	ENST00000557395.1	-	4	417	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	NDUFB8_ENST00000299166.4_Missense_Mutation_p.C130G|NDUFB8_ENST00000370322.1_Missense_Mutation_p.C99G|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000531258.1_Missense_Mutation_p.C130G|NDUFB8_ENST00000370320.4_Missense_Mutation_p.C130G			O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	130					mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	NADH(DB00157)	AGCTGCATACACATGACATGC	0.507000													17	43					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768979	140768979	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140768979G>A	ENST00000519479.1	+	1	1528	c.1528G>A	c.(1528-1530)Ggg>Agg	p.G510R	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGAGCGGGGTGGTGTT	0.662000													12	80					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000269305.4_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	17					0	0	1	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576766	149576766	+	Nonstop_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:149576766A>T	ENST00000421974.2	+	3	1593	c.642A>T	c.(640-642)tgA>tgT	p.*214C	ATP6V0E2_ENST00000606024.1_Nonstop_Mutation_p.*165C|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000479613.1_Nonstop_Mutation_p.*188C|ATP6V0E2_ENST00000425642.2_3'UTR	NM_001100592.1	NP_001094062.1	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCCCATCCTGAGGAGGACACG	0.637000													3	9					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123663245	123663245	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:123663245G>T	ENST00000542236.1	+	3	579	c.198G>T	c.(196-198)gtG>gtT	p.V66V	BBS12_ENST00000314218.3_Silent_p.V66V	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	66					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CCAGTGCAGTGGGACAACTTC	0.358000									Bardet-Biedl syndrome				16	57					1.15088e-07	1.40254e-07	1	1	0
G6PD	2539	broad.mit.edu	37	X	153762678	153762678	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153762678G>A	ENST00000393562.2	-	6	992	c.609C>T	c.(607-609)ttC>ttT	p.F203F	G6PD_ENST00000369620.2_Silent_p.F173F|G6PD_ENST00000393564.2_Silent_p.F173F	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	173					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCCCTCCCGAAGGGCTTCT	0.617000													14	67					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108869876	108869876	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:108869876C>T	ENST00000376700.1	+	3	377	c.377C>T	c.(376-378)tCt>tTt	p.S126F	SULT1C3_ENST00000329106.2_Missense_Mutation_p.S126F			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	126						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATTCCACCATCTATCTGGAAA	0.343000													13	32					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67685183	67685183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:67685183G>T	ENST00000334583.6	+	23	2606	c.2278G>T	c.(2278-2280)Gag>Tag	p.E760*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.E724*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	760										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)		GCGCCAGGCCGAGGATGCCAT	0.612000													21	63					2.39556e-15	3.57769e-15	1	1	0
CHRD	8646	broad.mit.edu	37	3	184100487	184100487	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:184100487C>A	ENST00000204604.1	+	8	1153	c.907C>A	c.(907-909)Ctc>Atc	p.L303I	CHRD_ENST00000348986.3_Missense_Mutation_p.L303I|CHRD_ENST00000450923.1_Missense_Mutation_p.L303I|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_5'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	303	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATCACCCTGCTCACTCTCAG	0.587000													22	123					3.7963e-18	5.95167e-18	1	1	0
C20orf194	25943	broad.mit.edu	37	20	3306916	3306916	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:3306916C>A	ENST00000252032.9	-	13	1183	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	C20orf194_ENST00000453730.2_Missense_Mutation_p.Q110H	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	372										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CAGCATATATCTGGGACAATA	0.353000													9	36					1.76689e-08	2.20922e-08	1	1	0
ZNF516	9658	broad.mit.edu	37	18	74154296	74154296	+	Missense_Mutation	SNP	C	C	A	rs12961584		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:74154296C>A	ENST00000443185.2	-	3	1032	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	239			G -> S (in dbSNP:rs12961584).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCGGGCTTGCCGTTCTCCACG	0.692000													3	10					1	1	1	1	0
MFSD12	126321	broad.mit.edu	37	19	3557192	3557192	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:3557192C>A	ENST00000355415.2	-	1	379	c.210G>T	c.(208-210)ggG>ggT	p.G70G	MFSD12_ENST00000591878.1_Intron|MFSD12_ENST00000398558.4_Silent_p.G70G|MFSD12_ENST00000389395.3_Silent_p.G70G|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	70					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GTGTGCACAGCCCGTCGGCCA	0.731000													3	7					0.115264	0.116282	1	1	0
CUX2	23316	broad.mit.edu	37	12	111744815	111744815	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:111744815G>A	ENST00000261726.6	+	11	1103	c.949G>A	c.(949-951)Gtg>Atg	p.V317M		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	317						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGAAGGACGTGCAGCACCT	0.647000													19	64					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126602	31126602	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:31126602A>G	ENST00000304166.4	+	11	1158	c.869A>G	c.(868-870)tAc>tGc	p.Y290C	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y290C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y290C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y269C	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	290					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						CTGAGACTCTACTTTGATGAC	0.502000													34	102					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717055	142717055	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142717055T>A	ENST00000381779.4	-	2	2095	c.1870A>T	c.(1870-1872)Atc>Ttc	p.I624F	SLITRK4_ENST00000338017.4_Missense_Mutation_p.I624F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.I624F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	624						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTAAGATACTTAAGATT	0.478000													30	101					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53997322	53997322	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:53997322G>C	ENST00000396328.1	-	11	1450	c.1211C>G	c.(1210-1212)aCt>aGt	p.T404S	WDR72_ENST00000557913.1_Missense_Mutation_p.T401S|WDR72_ENST00000360509.5_Missense_Mutation_p.T404S|WDR72_ENST00000559418.1_Missense_Mutation_p.T414S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	404										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GACTACAGCAGTTCCTGCCCC	0.393000													32	86					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166981314	166981314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:166981314G>T	ENST00000061240.2	+	15	2628	c.1981G>T	c.(1981-1983)Gag>Tag	p.E661*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.E684*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	661	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)		TGTGAAGTTTGAGTTTTTTGA	0.398000													13	47					7.05477e-17	1.08553e-16	1	1	0
HDAC2	3066	broad.mit.edu	37	6	114264637	114264637	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:114264637T>A	ENST00000519065.1	-	12	1632	c.1256A>T	c.(1255-1257)gAa>gTa	p.E419V	HDAC2_ENST00000398283.2_Missense_Mutation_p.E513V|HDAC2_ENST00000519108.1_Missense_Mutation_p.E389V|HDAC2_ENST00000368632.2_Missense_Mutation_p.E389V			Q92769	HDAC2_HUMAN	histone deacetylase 2	419					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TGAGAATTCTTCATCACAAGC	0.358000													10	39					0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31736683	31736683	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:31736683C>A	ENST00000342032.3	+	4	968	c.340C>A	c.(340-342)Cca>Aca	p.P114T	PPP1R17_ENST00000409146.3_Missense_Mutation_p.P63T|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	114					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											ACAGAAAAAGCCAAGGAGAAA	0.458000													12	54					6.40141e-05	7.09199e-05	1	1	0
RAB3GAP1	22930	broad.mit.edu	37	2	135848650	135848650	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:135848650A>G	ENST00000264158.8	+	4	276	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.Y34C|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.Y78C|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	78						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACTCATCATTATCTTGTACAA	0.333000													10	47					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85691140	85691140	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:85691140G>C	ENST00000253458.7	+	8	1746	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	GSE1_ENST00000405402.2_Missense_Mutation_p.E420Q|GSE1_ENST00000393243.1_Missense_Mutation_p.E451Q	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		GCAGGTGCTGGAGCAGCACCT	0.687000													6	11					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885768	29885768	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:29885768G>A	ENST00000310624.6	+	4	2172	c.2139G>A	c.(2137-2139)aaG>aaA	p.K713K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	719	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGTGAAGGAAGAAGCAA	0.557000													26	106					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198725078	198725078	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:198725078C>A	ENST00000367376.2	+	33	3854	c.3683C>A	c.(3682-3684)cCt>cAt	p.P1228H	PTPRC_ENST00000348564.6_Missense_Mutation_p.P1069H|PTPRC_ENST00000594404.1_Missense_Mutation_p.P1067H|PTPRC_ENST00000442510.2_Missense_Mutation_p.P1230H|PTPRC_ENST00000352140.3_Missense_Mutation_p.P1180H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1228					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGCACCTACCCTGCTCAGAAT	0.328000													23	37					1.85244e-09	2.38469e-09	1	1	0
BRAT1	221927	broad.mit.edu	37	7	2581387	2581387	+	Missense_Mutation	SNP	G	G	A	rs139472984	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:2581387G>A	ENST00000340611.4	-	8	1355	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	367					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCCAGGGTGCGGCACAGGAGG	0.701000													8	13					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71593479	71593479	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:71593479G>T	ENST00000408926.3	+	3	720	c.186G>T	c.(184-186)tgG>tgT	p.W62C	XKR9_ENST00000520030.1_Missense_Mutation_p.W62C|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	62						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)			GTTATTCTTGGTTCAAGGCTG	0.378000													36	226					3.11337e-16	4.74271e-16	1	1	0
ITGA2	3673	broad.mit.edu	37	5	52344594	52344594	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:52344594G>A	ENST00000296585.5	+	6	767	c.624G>A	c.(622-624)aaG>aaA	p.K208K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	208	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCCCCACAAAGACACAGGTAT	0.333000													4	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615721	179615721	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179615721G>C	ENST00000360870.5	-	46	11628	c.11406C>G	c.(11404-11406)ttC>ttG	p.F3802L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9639							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)			TTTCAGTCTGGAAAATTTCTT	0.343000													32	92					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114120235	114120235	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:114120235G>T	ENST00000357077.4	+	4	407	c.354G>T	c.(352-354)aaG>aaT	p.K118N	ANK2_ENST00000394537.3_Missense_Mutation_p.K118N|ANK2_ENST00000506722.1_Missense_Mutation_p.K97N|ANK2_ENST00000264366.6_Missense_Mutation_p.K118N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	118					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTTGTTAAGGAAGGAGCCA	0.348000													20	49					1.00905e-13	1.4616e-13	1	1	0
KLK2	3817	broad.mit.edu	37	19	51379788	51379788	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:51379788G>A	ENST00000325321.3	+	3	492	c.267G>A	c.(265-267)agG>agA	p.R89R	KLK2_ENST00000358049.4_Silent_p.R89R|KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000597509.1_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	89	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CAGGCCAGAGGGTCCCTGTCA	0.552000			T	ETV4	prostate								17	55					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211053	38211053	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:38211053G>T	ENST00000379705.3	-	11	3778	c.2921C>A	c.(2920-2922)aCc>aAc	p.T974N	TRPC4_ENST00000355779.2_Missense_Mutation_p.T833N|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.T979N|TRPC4_ENST00000358477.2_Missense_Mutation_p.T890N|TRPC4_ENST00000338947.5_Missense_Mutation_p.T801N|TRPC4_ENST00000447043.1_Missense_Mutation_p.T833N|TRPC4_ENST00000379673.2_Missense_Mutation_p.T825N|TRPC4_ENST00000379679.1_Missense_Mutation_p.T801N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	974	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAATCTTGTGGTCACGTAATC	0.403000													10	28					1.76689e-08	2.20922e-08	1	1	0
DTX4	23220	broad.mit.edu	37	11	58956686	58956686	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:58956686G>T	ENST00000227451.3	+	4	1153	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	DTX4_ENST00000532982.1_Missense_Mutation_p.R244M|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	350					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				TGTCTCACCAGGCCACCAAAG	0.552000													3	27					0.004672	0.00485803	1	1	0
MIR509-2	100126301	broad.mit.edu	37	X	146340297	146340297	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:146340297C>A	ENST00000390724.1	-	0	71					NR_030586.1																						AGTACTCTACCCACAGACGTA	0.463000													23	45					1.62565e-12	2.265e-12	1	1	0
ANLN	54443	broad.mit.edu	37	7	36458900	36458900	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:36458900A>T	ENST00000265748.2	+	10	1902	c.1681A>T	c.(1681-1683)Agt>Tgt	p.S561C	ANLN_ENST00000396068.2_Missense_Mutation_p.S524C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	561	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGATATCAATAGTTCGAAAGT	0.363000													20	51					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160174647	160174647	+	Splice_Site	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:160174647G>C	ENST00000358372.4	+	7	2364		c.e7+1		SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGTCAGGATGGTAAGGGGTTT	0.408000													14	48					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41885710	41885710	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:41885710C>T	ENST00000379406.3	+	1	370	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	NAA16_ENST00000403412.3_Missense_Mutation_p.R16C|NAA16_ENST00000379367.3_Missense_Mutation_p.R16C	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	16					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CCTCTTCAAACGCATCTTGGT	0.736000													6	12					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347537	140347537	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140347537C>A	ENST00000289269.5	+	1	1718	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T	PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		396	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTCAGGCCCCAACCGGAA	0.577000													14	60					1.49906e-05	1.69153e-05	1	1	0
SPAG6	9576	broad.mit.edu	37	10	22680657	22680657	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:22680657G>A	ENST00000376603.2	+	8	1375		c.e8-1		SPAG6_ENST00000313311.6_Splice_Site|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Splice_Site|SPAG6_ENST00000538630.1_Splice_Site|SPAG6_ENST00000376601.1_Splice_Site			O75602	SPAG6_HUMAN	sperm associated antigen 6						cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CCACGCTGCAGGGTGTACCCC	0.468000													5	30					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76703236	76703236	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:76703236C>A	ENST00000264917.5	+	13	1364	c.1319C>A	c.(1318-1320)tCc>tAc	p.S440Y	PDE8B_ENST00000342343.4_Missense_Mutation_p.S420Y|PDE8B_ENST00000333194.4_Missense_Mutation_p.S440Y|PDE8B_ENST00000346042.3_Missense_Mutation_p.S343Y|PDE8B_ENST00000340978.3_Missense_Mutation_p.S393Y	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	440					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGCTATCCGTCCATGGCGAGG	0.602000													14	86					5.01169e-05	5.57261e-05	1	1	0
OR10P1	121130	broad.mit.edu	37	12	56031284	56031284	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:56031284C>A	ENST00000309675.2	+	1	641	c.609C>A	c.(607-609)gcC>gcA	p.A203A		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGATGACAGCCACCATAGTCT	0.567000													23	85					2.89027e-11	3.90207e-11	1	1	0
SCAP	22937	broad.mit.edu	37	3	47476525	47476525	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:47476525T>A	ENST00000265565.5	-	3	637	c.225A>T	c.(223-225)caA>caT	p.Q75H	SCAP_ENST00000441517.2_De_novo_Start_InFrame|SCAP_ENST00000545718.1_De_novo_Start_InFrame	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	75					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TAGGCTCTCCTTGTTTGCGGT	0.597000													25	47					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56651595	56651595	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:56651595T>C	ENST00000389934.3	-	23	3573	c.3456A>G	c.(3454-3456)caA>caG	p.Q1152Q	TEX14_ENST00000349033.5_Silent_p.Q1112Q|TEX14_ENST00000240361.8_Silent_p.Q1158Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1158						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTCTCTTCTTGTTCATCTT	0.378000													15	61					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9549283	9549283	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:9549283C>A	ENST00000400556.3	-	19	2674	c.2601G>T	c.(2599-2601)atG>atT	p.M867I	PPP4R1_ENST00000400555.3_Missense_Mutation_p.M850I	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	867					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GCAGATGCGGCATGAGATGCA	0.478000													30	104					1.30897e-18	2.06632e-18	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72492069	72492069	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:72492069G>A	ENST00000373208.1	+	7	1171	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.D388N	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	388	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAACCATGAGGATGGCTTCTC	0.607000													16	31					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	RNA	SNP	T	T	C	rs138077672	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:142481888T>C	ENST00000603901.1	+	0	567					NR_001296.3																						TGGGCTTCCTTGAGGGAGGCA	0.522000													5	60					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140130486	140130486	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:140130486T>A	ENST00000538474.1	+	13	1642	c.1418T>A	c.(1417-1419)cTg>cAg	p.L473Q	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L473Q	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	473					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCCATCCCGCTGGCCAGGCAC	0.692000											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	47					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31123813	31123813	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:31123813A>T	ENST00000304166.4	+	7	675	c.386A>T	c.(385-387)cAt>cTt	p.H129L	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.H129L|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.H129L|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.H108L	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	129	Important for ligand binding and specificity.				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						CCCTTCCCTCATTACTTTGAT	0.542000													13	75					0	0	1	0	0
CETN2	1069	broad.mit.edu	37	X	151997742	151997742	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:151997742G>C	ENST00000370277.3	-	3	308	c.242C>G	c.(241-243)aCa>aGa	p.T81R	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	81	EF-hand 2.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CATTTTTCCTGTCCCTTCCTT	0.398000								Direct reversal of damage;Nucleotide excision repair (NER)					27	79					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40631906	40631906	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:40631906G>T	ENST00000298910.7	+	5	629		c.e5+1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTGAGAGAGGTATTTTAAAA	0.313000													5	40					1.23904e-05	1.40332e-05	1	1	0
VWC2	375567	broad.mit.edu	37	7	49842323	49842323	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:49842323G>T	ENST00000340652.3	+	3	1269	c.713G>T	c.(712-714)aGg>aTg	p.R238M		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	238	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCATGCGAGAGGTGTCGCTGT	0.512000													36	90					6.97489e-18	1.08789e-17	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41967120	41967120	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:41967120G>C	ENST00000298919.7	+	10	2147	c.1759G>C	c.(1759-1761)Gcc>Ccc	p.A587P	PDZRN4_ENST00000539469.2_Missense_Mutation_p.A589P|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A847P			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	847							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCCAGCACACGCCCGGCATTA	0.483000													39	109					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40315277	40315277	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:40315277C>T	ENST00000264661.3	-	14	2885	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	KCNH4_ENST00000607371.1_Silent_p.L851L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	851					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGCCTTGGCAGTTCAGGCC	0.597000													23	51					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	103008201	103008201	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:103008201T>A	ENST00000435765.1	+	12	1500	c.1089T>A	c.(1087-1089)agT>agA	p.S363R	SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.S226R|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.S363R	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	363					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GTTCAATGAGTGTTGAAAGAG	0.358000													21	76					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35086990	35086990	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:35086990G>T	ENST00000290378.4	-	2	675	c.20C>A	c.(19-21)aCc>aAc	p.T7N	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	7					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGGGCGGTGGTCTCCTCGTC	0.677000													36	139					2.40579e-17	3.73327e-17	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176661388	176661388	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:176661388T>C	ENST00000367662.3	+	6	3722	c.2558T>C	c.(2557-2559)aTc>aCc	p.I853T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	853					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTATGGTCATCGGACAGACC	0.527000													42	146					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102250524	102250524	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:102250524G>A	ENST00000376180.3	+	7	1109	c.890G>A	c.(889-891)gGa>gAa	p.G297E	ITGBL1_ENST00000545560.2_Missense_Mutation_p.G156E|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G204E	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	297	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTAATTGCGGAAGATGTGAC	0.448000													7	56					0	0	1	0	0
LINC01098	285501	broad.mit.edu	37	4	178897046	178897046	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:178897046G>C	ENST00000507870.1	+	5	711	c.249G>C	c.(247-249)caG>caC	p.Q83H																	lung(8)|prostate(1)	9						ATGTTTTCCAGAGCCTACAGA	0.398000													26	77					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145883507	145883507	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:145883507G>C	ENST00000296702.5	+	18	2706	c.2668G>C	c.(2668-2670)Gag>Cag	p.E890Q	TCERG1_ENST00000394421.2_Missense_Mutation_p.E869Q|TCERG1_ENST00000509787.1_3'UTR	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	890					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATAGATCGAGAGAGAGAGCA	0.418000													19	38					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143081512	143081512	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:143081512C>T	ENST00000513000.1	-	18	1995	c.1563_splice	c.e18+1	p.W521_splice	INPP4B_ENST00000508116.1_Splice_Site_p.W521_splice|INPP4B_ENST00000509777.1_Splice_Site_p.W521_splice|INPP4B_ENST00000262992.4_Splice_Site_p.W521_splice|INPP4B_ENST00000308502.4_Splice_Site_p.W521_splice	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	521					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GAGACTTACCCACTCTTCCTC	0.448000													15	66					0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96651661	96651661	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:96651661C>G	ENST00000222598.4	-	2	849	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.E126Q	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	126					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ATTCTCACCTCGGGCTCGGTC	0.448000													26	74					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058283	11058283	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:11058283C>A	ENST00000470054.1	-	0	364									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCTTCACAGCATTTGATAGT	0.403000													4	155					5.9392e-07	7.08672e-07	1	1	0
MATR3	9782	broad.mit.edu	37	5	138657702	138657702	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:138657702A>T	ENST00000394800.2	+	14	2267	c.1718A>T	c.(1717-1719)aAa>aTa	p.K573I	MATR3_ENST00000503811.1_Missense_Mutation_p.K285I|MATR3_ENST00000509990.1_Missense_Mutation_p.K573I|MATR3_ENST00000361059.2_Missense_Mutation_p.K573I|MATR3_ENST00000510056.1_Missense_Mutation_p.K573I|MATR3_ENST00000504203.1_Missense_Mutation_p.K235I|MATR3_ENST00000394805.3_Missense_Mutation_p.K573I|MATR3_ENST00000502929.1_Missense_Mutation_p.K573I|MATR3_ENST00000502499.1_Missense_Mutation_p.K235I			P43243	MATR3_HUMAN	matrin 3	573						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGAAATATAAAAAACTGGTT	0.348000													19	47					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41471751	41471751	+	Silent	SNP	G	G	C	rs145143197	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:41471751G>C	ENST00000372621.4	+	13	1789	c.1281G>C	c.(1279-1281)acG>acC	p.T427T	CTPS1_ENST00000372616.1_Silent_p.T427T|CTPS1_ENST00000541520.1_Silent_p.T196T	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	427	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	TTGACCCTACGACCAGTCATC	0.393000													10	35					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56307532	56307532	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56307532G>A	ENST00000443188.1	-	8	2966	c.2256C>T	c.(2254-2256)acC>acT	p.T752T	NLRP11_ENST00000592953.1_Silent_p.T653T|NLRP11_ENST00000360133.3_Silent_p.T698T|NLRP11_ENST00000589824.2_Silent_p.T698T|NLRP11_ENST00000589093.1_Silent_p.T752T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	752							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCTGGATAAGGTCAGTTTTC	0.478000													45	117					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44586752	44586752	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:44586752C>A	ENST00000409936.1	-	2	540	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	PREPL_ENST00000410081.1_Missense_Mutation_p.D35Y|PREPL_ENST00000378520.3_Missense_Mutation_p.D35Y|PREPL_ENST00000409272.1_Missense_Mutation_p.D35Y|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.D35Y|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000378511.3_Missense_Mutation_p.D35Y|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409957.1_Intron	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	35					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAACAATGATCAGCGAAGTTA	0.353000													17	71					3.41278e-10	4.45612e-10	1	1	0
ATP5L2	267020	broad.mit.edu	37	22	43035992	43035992	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:43035992C>G	ENST00000505920.1	-	1	615	c.289G>C	c.(289-291)Ggc>Cgc	p.G97R	CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000396303.3_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	97					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						CCAATGATGCCACGCTTGCCT	0.428000													11	25					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100949889	100949889	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:100949889G>A	ENST00000193391.7	-	16	3521	c.3334C>T	c.(3334-3336)Ctt>Ttt	p.L1112F		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1112					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATGACAAGAAGTCCAACCACG	0.493000													39	114					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76551080	76551080	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:76551080A>T	ENST00000369981.3	+	9	1080	c.801A>T	c.(799-801)tcA>tcT	p.S267S	MYO6_ENST00000369977.3_Silent_p.S267S|MYO6_ENST00000369985.4_Silent_p.S267S|MYO6_ENST00000369975.1_Silent_p.S267S			Q9UM54	MYO6_HUMAN	myosin VI	267	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATTTGAGTTCACCAGATAATT	0.408000													5	34					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021088	5021088	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:5021088G>C	ENST00000382545.3	+	2	1651	c.544G>C	c.(544-546)Gtc>Ctc	p.V182L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	182					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.V182I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCTCCATCGTCATCTTTTG	0.597000													25	75					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361946	105361946	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:105361946C>T	ENST00000369774.4	-	15	3305	c.3029G>A	c.(3028-3030)cGa>cAa	p.R1010Q	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R877Q|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R845Q|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R982Q			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1010					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCGGACGCCTCGGAGGCCATC	0.667000													15	66					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156106	22156106	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:22156106A>C	ENST00000397126.4	-	4	1878	c.1730T>G	c.(1729-1731)gTa>gGa	p.V577G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.V477G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTACAGTATGAAT	0.353000													5	24					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323353	29323353	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29323353C>T	ENST00000377154.1	-	4	919	c.620G>A	c.(619-621)gGt>gAt	p.G207D	OR5V1_ENST00000543825.1_Missense_Mutation_p.G207D			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGAGTCCAACCAATGAAGAC	0.443000													20	60					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109321818	109321818	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:109321818T>A	ENST00000436639.2	-	4	1350	c.605A>T	c.(604-606)cAt>cTt	p.H202L	SESN1_ENST00000356644.7_Missense_Mutation_p.H143L|SESN1_ENST00000302071.2_Missense_Mutation_p.H77L	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	143					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CCCACCAACATGAAGGAAATC	0.383000													17	41					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33374378	33374378	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:33374378G>T	ENST00000428849.2	+	9	2287	c.1837G>T	c.(1837-1839)Gtg>Ttg	p.V613L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	613					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GGAGTCCCACGTGCCTTACCG	0.552000													15	66					5.01169e-05	5.57261e-05	1	1	0
RGMB	285704	broad.mit.edu	37	5	98129142	98129142	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:98129142G>C	ENST00000308234.7	+	5	1524	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L	RGMB_ENST00000513185.1_Silent_p.L333L	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	333					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CTGCCATCCTGGGACACAGCC	0.617000													7	12					0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38161590	38161590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:38161590G>T	ENST00000373055.1	+	3	505	c.232G>T	c.(232-234)Gga>Tga	p.G78*	CDCA8_ENST00000327331.2_Nonsense_Mutation_p.G78*	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	78	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCCTTGGAGGAAACAAACA	0.408000													5	30					0.000602214	0.00064528	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126751560	126751560	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:126751560A>G	ENST00000393409.2	+	30	5476	c.5476A>G	c.(5476-5478)Atc>Gtc	p.I1826V	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.I1803V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1826					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GATGCCAGCCATCAGCGACCA	0.622000													13	69					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588586	153588586	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153588586G>C	ENST00000422373.1	-	22	3825	c.3577C>G	c.(3577-3579)Ctg>Gtg	p.L1193V	FLNA_ENST00000360319.4_Missense_Mutation_p.L1193V|FLNA_ENST00000369850.3_Missense_Mutation_p.L1193V|FLNA_ENST00000344736.4_Missense_Mutation_p.L1193V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1193					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAATGGTCAGCTCCGCGCTG	0.657000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	28	74					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389118	20389118	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20389118T>A	ENST00000315915.4	+	1	378	c.353T>A	c.(352-354)aTg>aAg	p.M118K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGTTTCGATGGCCTATGAC	0.453000													94	544					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54445349	54445349	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:54445349C>G	ENST00000391767.1	+	6	842	c.630C>G	c.(628-630)taC>taG	p.Y210*	CACNG7_ENST00000222212.2_Nonsense_Mutation_p.Y210*			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	210				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGGAGATGTACCGTCCACACC	0.706000													11	40					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751387	140751387	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140751387G>T	ENST00000576222.1	+	1	1557	c.1426G>T	c.(1426-1428)Gcc>Tcc	p.A476S	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGTCAGAGCCTCGGATCC	0.592000													32	99					5.91797e-21	9.6075e-21	1	1	0
SULF2	55959	broad.mit.edu	37	20	46313262	46313262	+	Silent	SNP	G	G	C	rs114802841	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:46313262G>C	ENST00000359930.4	-	6	1652	c.801C>G	c.(799-801)ccC>ccG	p.P267P	SULF2_ENST00000361612.4_Silent_p.P267P|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Silent_p.P267P|SULF2_ENST00000467815.1_Silent_p.P267P	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	267					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						TGGGCTTCATGGGCCCCGTGT	0.602000													9	28					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22182345	22182345	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:22182345G>A	ENST00000374695.3	-	45	5715	c.5636C>T	c.(5635-5637)cCc>cTc	p.P1879L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1879	Ig-like C2-type 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGTTGCCCGGGCTGCACTGT	0.647000													10	30					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093794	43093794	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:43093794T>C	ENST00000244336.5	-	3	619	c.518A>G	c.(517-519)aAc>aGc	p.N173S	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	173	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GTAGGTTGTGTTCTGAGTCTC	0.567000													52	184					0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49924927	49924927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:49924927C>A	ENST00000355854.4	-	5	1014	c.517G>T	c.(517-519)Gag>Tag	p.E173*	CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E173*|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E173*|CAB39L_ENST00000409130.1_Nonsense_Mutation_p.E29*|CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E173*	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	173					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GTTGACAACTCCACGTACTTA	0.373000													27	51					1.74197e-06	2.04648e-06	1	1	0
ERCC5	2073	broad.mit.edu	37	13	103527879	103527879	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:103527879A>T	ENST00000355739.4	+	15	4610	c.3187A>T	c.(3187-3189)Acc>Tcc	p.T1063S	ERCC5_ENST00000375954.1_Missense_Mutation_p.T296S|ERCC5_ENST00000472247.1_3'UTR	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATAACAAATACCTTAGAAGA	0.423000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				37	91					0	0	1	0	0
TMEM159	57146	broad.mit.edu	37	16	21190859	21190859	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:21190859G>C	ENST00000233047.4	+	5	936	c.468G>C	c.(466-468)gaG>gaC	p.E156D	TMEM159_ENST00000261388.3_Missense_Mutation_p.E156D|TMEM159_ENST00000451578.2_Missense_Mutation_p.E180D|TMEM159_ENST00000572258.1_3'UTR|TMEM159_ENST00000572599.1_Missense_Mutation_p.E156D			Q96B96	TM159_HUMAN	transmembrane protein 159	156						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CAGAATTCGAGGGGCTTTACC	0.507000													16	66					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135094821	135094821	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:135094821A>G	ENST00000368563.2	-	17	2885	c.2529T>C	c.(2527-2529)taT>taC	p.Y843Y	TUBGCP2_ENST00000252936.3_Silent_p.Y843Y|TUBGCP2_ENST00000417178.2_Silent_p.Y713Y|TUBGCP2_ENST00000368562.1_Silent_p.Y436Y|TUBGCP2_ENST00000543663.1_Silent_p.Y871Y	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	843					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CACTGGTGCTATAGATGCTCA	0.632000													10	63					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70181996	70181996	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:70181996G>A	ENST00000399180.2	-	17	2940	c.2941C>T	c.(2941-2943)Ctt>Ttt	p.L981F	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Missense_Mutation_p.L895F			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	895					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCTGTATTAAGGAAACAAACA	0.313000													4	8					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123210239	123210239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:123210239G>A	ENST00000349780.4	-	22	3138	c.2959C>T	c.(2959-2961)Caa>Taa	p.Q987*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q987*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q987*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q955*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	987	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATTAACTTTTGGTGAAGTTGC	0.507000													79	81					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													55	184	---	---	---	---					
CD1A	909	broad.mit.edu	37	1	158225991	158225992	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:158225991_158225992delAC	ENST00000289429.5	+	3	1056_1057	c.523_524delAC	c.(523-525)afs	p.T175fs		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	175					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAATGACATAACACACAATCTT	0.480													20	85	---	---	---	---					
CD1C	911	broad.mit.edu	37	1	158262662	158262662	+	Frame_Shift_Del	DEL	G	G	-	rs144494205		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:158262662delG	ENST00000368170.3	+	4	1166	c.887delG	c.(886-888)tgfs	p.W296fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	296	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATCCTCTACTGGGGTAAGACT	0.522													9	45	---	---	---	---					
VANGL2	57216	broad.mit.edu	37	1	160385889	160385889	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:160385889delG	ENST00000368061.2	+	3	583	c.109delG	c.(109-111)ggfs	p.G38fs		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	38					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTCGAGATGGGGGCCGAGG	0.642													29	66	---	---	---	---					
RASAL2	9462	broad.mit.edu	37	1	178427428	178427428	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:178427428delC	ENST00000448150.3	+	14	3786	c.2968delC	c.(2968-2970)cafs	p.P990fs	RASAL2_ENST00000367649.3_Frame_Shift_Del_p.P1001fs|RASAL2_ENST00000462775.1_Frame_Shift_Del_p.P860fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	860					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCTTGCTTTGCCACGACAAAA	0.547													15	52	---	---	---	---					
PTPN7	5778	broad.mit.edu	37	1	202127306	202127306	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:202127306delA	ENST00000309017.3	-	3	1334	c.561delT	c.(559-561)ctfs	p.L187fs	PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000308986.5_Frame_Shift_Del_p.L82fs|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000367279.4_Frame_Shift_Del_p.L121fs	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	82	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CCCAGCGGGTAAGGGGGTGTC	0.607													9	62	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agt>ag	p.SS117del	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				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)					GCCACCATCACTGCTGCTGCTGC	0.463													7	181	---	---	---	---					
CCDC141	285025	broad.mit.edu	37	2	179733867	179733867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179733867delG	ENST00000420890.2	-	15	2488	c.2371delC	c.(2371-2373)agfs	p.Q791fs	CCDC141_ENST00000295723.5_Frame_Shift_Del_p.Q216fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	216							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGATGGAACTGGACCACCTTG	0.343													22	99	---	---	---	---					
ZBTB11	27107	broad.mit.edu	37	3	101383838	101383838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:101383838delC	ENST00000312938.4	-	4	2173	c.1593delG	c.(1591-1593)cgfs	p.R531fs		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAACGGCTTTCCGTTTCTGCA	0.403													16	94	---	---	---	---					
FBXO40	51725	broad.mit.edu	37	3	121340390	121340390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:121340390delC	ENST00000338040.4	+	3	528	c.114delC	c.(112-114)tgfs	p.C38fs		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	38					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TAATAAGCTGCCACCTGCTCT	0.582													17	90	---	---	---	---					
P2RY13	53829	broad.mit.edu	37	3	151046592	151046593	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:151046592_151046593insT	ENST00000325602.5	-	2	270_271	c.251_252insA	c.(250-252)aacfs	p.N84fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	84						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CCACCAAAGTGTTTTTGAGGTA	0.485													48	79	---	---	---	---					
PLCH1	23007	broad.mit.edu	37	3	155198905	155198905	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:155198905delC	ENST00000460012.1	-	23	5177	c.4820delG	c.(4819-4821)gtfs	p.G1608fs	PLCH1_ENST00000414191.1_Frame_Shift_Del_p.G1608fs|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.G1646fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.G1608fs|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1646					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCAAGGCCACCCCCTTTCGT	0.557													9	53	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26417154	26417155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:26417154_26417155insG	ENST00000342320.4	+	4	386_387	c.210_211insG	c.(208-213)aaaacafs	p.T71fs	RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.T85fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.T85fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.T72fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.T71fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.T50fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.T70fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.T71fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	85					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AGAAAAAAAAAGAACAAATGGA	0.381													31	119	---	---	---	---					
OR10C1	442194	broad.mit.edu	37	6	29408263	29408263	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29408263delC	ENST00000444197.2	+	1	1181	c.471delC	c.(469-471)ggfs	p.G157fs	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGGGCTGGGCCACACCCCTT	0.617													28	115	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87964977	87964978	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:87964977_87964978delTG	ENST00000369577.3	+	8	1673_1674	c.1630_1631delTG	c.(1630-1632)tfs	p.C544fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.C539fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGCAGTATTGTGTGTTGTGT	0.391													7	35	---	---	---	---					
PLEKHG1	57480	broad.mit.edu	37	6	151089835	151089835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:151089835delC	ENST00000367328.1	+	4	785	c.473delC	c.(472-474)gcfs	p.A158fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.A158fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	158	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAAAGATCAGCCCTTTTTGGA	0.388													7	46	---	---	---	---					
TYW1	55253	broad.mit.edu	37	7	66479503	66479503	+	Frame_Shift_Del	DEL	G	G	-	rs143691852	by1000genomes	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:66479503delG	ENST00000359626.5	+	5	689	c.525delG	c.(523-525)gcfs	p.A175fs		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	175	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGAGATATGCGGTATTTGGCC	0.423													55	167	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82579063	82579063	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:82579063delG	ENST00000423517.2	-	6	11178	c.10841delC	c.(10840-10842)ctfs	p.P3614fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.P3614fs|PCLO_ENST00000437081.1_Frame_Shift_Del_p.P334fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3545					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						GGGTGGGGAAGGAGCCAGCTG	0.498													22	89	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971063	21971063	+	Frame_Shift_Del	DEL	G	G	-	rs34886500		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:21971063delG	ENST00000579755.1	-	2	630	c.338delC	c.(337-339)cgfs	p.P113fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P154fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P113fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.R48fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.R99fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	129					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.R99W(2)|p.0(1)|p.T93_D105del(1)|p.A68fs*3(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCCGGCCCGGTGCAGCACC	0.751		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			37	36	---	---	---	---					
PRUNE2	158471	broad.mit.edu	37	9	79323319	79323319	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:79323319delC	ENST00000428286.1	-	8	3994	c.2794delG	c.(2794-2796)aafs	p.E932fs	PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.E1291fs			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1291					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCAGGGTTTCCCTCTCTGTG	0.493													30	39	---	---	---	---					
NHLRC2	374354	broad.mit.edu	37	10	115662245	115662245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:115662245delG	ENST00000369301.3	+	8	1599	c.1387delG	c.(1387-1389)gtfs	p.G463fs		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	463					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATTTGCTTTTGGTGATGTTGA	0.303													22	64	---	---	---	---					
NPS	594857	broad.mit.edu	37	10	129347804	129347805	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:129347804_129347805insT	ENST00000398023.1	+	2	80_81	c.60_61insT	c.(58-63)gttttgfs	p.L21fs		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	21					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CAATGCATGTGTTTTGGTGTTA	0.356													8	54	---	---	---	---					
TRPM5	29850	broad.mit.edu	37	11	2432736	2432738	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:2432736_2432738delGAA	ENST00000452833.1	-	18	2640_2642	c.2632_2634delTTC	c.(2632-2634)del	p.F878del	TRPM5_ENST00000533060.1_In_Frame_Del_p.F876del|TRPM5_ENST00000155858.6_In_Frame_Del_p.F876del|TRPM5_ENST00000528453.1_In_Frame_Del_p.F876del			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	876						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAAAGAAGAGGAAGAAGAAGACG	0.675													19	42	---	---	---	---					
IPO8	10526	broad.mit.edu	37	12	30827001	30827001	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:30827001delT	ENST00000256079.4	-	8	1170	c.832delA	c.(832-834)gcfs	p.S278fs	IPO8_ENST00000544829.1_Frame_Shift_Del_p.S73fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	278					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTCCTGGGCTTCCATATCTT	0.303													13	31	---	---	---	---					
IFNG-AS1	100885789	broad.mit.edu	37	12	68430536	68430536	+	RNA	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:68430536delC	ENST00000536914.1	+	0	336																											GAAGCTCTGACCCCTATGGTG	0.453													15	38	---	---	---	---					
MKRN9P	400058	broad.mit.edu	37	12	88177083	88177083	+	RNA	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:88177083delC	ENST00000599191.1	-	0	150																											TCAATGAGTTCCCAGAAGTGG	0.498													14	52	---	---	---	---					
TMEM132D	121256	broad.mit.edu	37	12	129566531	129566531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:129566531delG	ENST00000422113.2	-	7	2022	c.1696delC	c.(1696-1698)gcfs	p.R566fs	TMEM132D_ENST00000389441.4_Frame_Shift_Del_p.R104fs	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	566						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGCAGCCGCGGCCCCTCCGC	0.642													34	105	---	---	---	---					
TGM1	7051	broad.mit.edu	37	14	24729847	24729847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:24729847delC	ENST00000206765.6	-	4	689	c.566delG	c.(565-567)gcfs	p.G189fs	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	189					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCCTCCACTGCCCCCCTTGCC	0.592													28	155	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													4	6	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													3	6	---	---	---	---					
ADAMTS18	170692	broad.mit.edu	37	16	77356295	77356296	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:77356295_77356296insT	ENST00000282849.5	-	14	2518_2519	c.2100_2101insA	c.(2098-2103)aatgaafs	p.NE700fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	700	Cys-rich.				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						CCATCTTTCACTTTGCCGGACA	0.411													20	118	---	---	---	---					
LAIR2	3904	broad.mit.edu	37	19	55019138	55019138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55019138delC	ENST00000301202.2	+	3	225	c.103delC	c.(103-105)cafs	p.P35fs	LAIR2_ENST00000351841.2_Frame_Shift_Del_p.P35fs	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	35	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CTCGGCTGAGCCAGGCACTGT	0.577													60	239	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57766807	57766807	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57766807delC	ENST00000371030.2	+	1	733	c.733delC	c.(733-735)ccfs	p.P245fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	245						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCGGAGAGACCCCTTTCTCC	0.672													26	67	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843613	18843613	+	RNA	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:18843613delG	ENST00000412938.1	+	0	2337																											AGGAGAGGCAGGGGCGGGGGT	0.622													4	3	---	---	---	---					
ZNF185	7739	broad.mit.edu	37	X	152106684	152106684	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:152106684delG	ENST00000535861.1	+	16	1329	c.1281delG	c.(1279-1281)gafs	p.E427fs	ZNF185_ENST00000370270.1_Frame_Shift_Del_p.E158fs|ZNF185_ENST00000318504.7_Frame_Shift_Del_p.E336fs|ZNF185_ENST00000370268.4_Frame_Shift_Del_p.E395fs|ZNF185_ENST00000324823.6_Frame_Shift_Del_p.E163fs|ZNF185_ENST00000318529.8_Frame_Shift_Del_p.E174fs|ZNF185_ENST00000449285.2_Frame_Shift_Del_p.E396fs|ZNF185_ENST00000539731.1_Frame_Shift_Del_p.E398fs	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	395						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCAGGAGGATGCAAAGG	0.567													2	4	---	---	---	---					
