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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR1F1	4992	broad.mit.edu	37	16	3254454	3254454	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:3254454G>A	uc010uwu.2	+	0	208	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GTCTTTTGTGGACATCTGCTT	0.527000														59			45		0	0	0.014410	0	0
CACNA1A	773	broad.mit.edu	37	19	13428134	13428134	+	Splice_Site	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:13428134A>G	uc002mwy.3	-	11	1582	c.1346_splice	c.e11-1	p.G449_splice	CACNA1A_uc010dzc.2_Splice_Site|CACNA1A_uc010xnd.2_Splice_Site_p.G449_splice|CACNA1A_uc021ups.1_Splice_Site_p.G449_splice|CACNA1A_uc010xne.2_Splice_Site_p.G449_splice|CACNA1A_uc010dze.2_Splice_Site_p.G449_splice|CACNA1A_uc021upt.1_Splice_Site_p.G450_splice	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	450					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGAAGGGAGAACCTGCCAGGG	0.502000														10			3		0	0	0.004672	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108200	151108200	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:151108200G>A	uc001ewv.3	-	13	1636	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	SEMA6C_uc001ewu.3_Missense_Mutation_p.P434S|SEMA6C_uc001eww.3_Missense_Mutation_p.P394S	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	434	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTACTGTGGGGACCAGCCATG	0.582000														36			16		0	0	0.003163	0	0
FLG	2312	broad.mit.edu	37	1	152282067	152282067	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152282067G>A	uc001ezu.1	-	2	5331	c.5295C>T	c.(5293-5295)ttC>ttT	p.F1765F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1765	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.F1765F(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGTAGAGGAAAGACCCTG	0.612000									Ichthyosis					95			67		0	0	0.014410	0	0
GLI3	2737	broad.mit.edu	37	7	42005316	42005316	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:42005316C>A	uc011kbh.2	-	14	3446	c.3355G>T	c.(3355-3357)Gac>Tac	p.D1119Y	GLI3_uc011kbg.2_Missense_Mutation_p.D1060Y	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1119					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACTTTGCTGTCGTCCGGGAGG	0.642000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					55			16		8.60227e-14	1.39833e-13	0.004007	1	0
RHOBTB2	23221	broad.mit.edu	37	8	22862018	22862018	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:22862018C>T	uc003xcp.2	+	3	420	c.137C>T	c.(136-138)gCc>gTc	p.A46V	RHOBTB2_uc011kzp.1_Missense_Mutation_p.A31V|RHOBTB2_uc003xcq.2_Missense_Mutation_p.A24V	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	24	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGGACAACGCCGTGGGTAAG	0.582000											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			6		0	0	0.006214	0	0
KCNK5	8645	broad.mit.edu	37	6	39159183	39159183	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:39159183C>T	uc003oon.3	-	4	1347	c.983G>A	c.(982-984)gGg>gAg	p.G328E		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	328					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCTTGAGGCCCCAGCCCTGG	0.632000														33			11		0	0	0.008291	0	0
ZNF568	374900	broad.mit.edu	37	19	37441305	37441305	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:37441305C>T	uc002ofc.3	+	6	1768	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.P416L|ZNF568_uc002ofd.3_Missense_Mutation_p.P353L|ZNF568_uc010efe.3_Missense_Mutation_p.P353L|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGAGAAACCCTATGTATGT	0.388000														27			22		0	0	0.003330	0	0
KRT3	3850	broad.mit.edu	37	12	53189302	53189302	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:53189302G>A	uc001say.3	-	0	591	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	175	Head.			I -> T (in Ref. 1; CAA28991).	epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GACTCTGGTTGATAGTCACTT	0.582000														5			13		0	0	0.001855	0	0
MRC2	9902	broad.mit.edu	37	17	60767588	60767588	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:60767588C>T	uc002jad.3	+	25	4216	c.3814C>T	c.(3814-3816)Ccc>Tcc	p.P1272S	MRC2_uc002jae.3_Missense_Mutation_p.P343S|MRC2_uc002jaf.3_Missense_Mutation_p.P138S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1272					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGCGTGGATTCCCTTCCGGGA	0.627000														17			11		0	0	0.008291	0	0
CHEK1	1111	broad.mit.edu	37	11	125503111	125503111	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:125503111C>T	uc009zbo.3	+	5	1375	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CHEK1_uc010sbi.2_Missense_Mutation_p.R160C|CHEK1_uc010sbh.2_Missense_Mutation_p.R176C|CHEK1_uc001qcf.4_Missense_Mutation_p.R160C|CHEK1_uc009zbp.3_Missense_Mutation_p.R160C|CHEK1_uc001qcg.4_Missense_Mutation_p.R160C	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	160	Protein kinase.				DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R160H(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTATAATAATCGTGAGCGTTT	0.358000								Other conserved DNA damage response genes						54			18		0	0	0.010504	0	0
SCN3A	6328	broad.mit.edu	37	2	165984373	165984373	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:165984373C>T	uc002ucx.3	-	17	3653	c.3161G>A	c.(3160-3162)gGa>gAa	p.G1054E	SCN3A_uc002ucy.3_Missense_Mutation_p.G1005E|SCN3A_uc002ucz.3_Missense_Mutation_p.G1005E|SCN3A_uc002uda.1_Missense_Mutation_p.G874E|SCN3A_uc002udb.1_Missense_Mutation_p.G874E	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1054						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TATTTCAATTCCAGTATTATT	0.373000														46			38		0	0	0.004289	0	0
WDR65	149465	broad.mit.edu	37	1	43649360	43649360	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:43649360C>T	uc021omk.1	+	3	719	c.573C>T	c.(571-573)agC>agT	p.S191S	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Silent_p.S180S|WDR65_uc001ciq.2_Silent_p.S191S|WDR65_uc001cip.2_Silent_p.S191S	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	191										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCAAACCAGCTTTCAGAGGG	0.488000														62			21		0	0	0.010504	0	0
CXorf61	203413	broad.mit.edu	37	X	115593954	115593954	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:115593954G>A	uc004eqj.1	-	0	184	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	22						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						TGAAAGCGGCGATATTTCCAG	0.428000														30			34		0	0	0.006999	0	0
STK10	6793	broad.mit.edu	37	5	171481681	171481681	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:171481681C>T	uc003mbo.1	-	16	2844	c.2544G>A	c.(2542-2544)gaG>gaA	p.E848E		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	848	Gln-rich.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGCCTCTTCTCCTCCTGCT	0.642000														62			15		0	0	0.006122	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858185	149858185	+	Silent	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:149858185A>G	uc001etc.3	-	0	48	c.6T>C	c.(4-6)ccT>ccC	p.P2P	HIST2H2AC_uc001etd.3_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA.	2					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTGCCGGTTCAGGCATGGTAA	0.512000														22			11		0	0	0.008291	0	0
ALDOB	229	broad.mit.edu	37	9	104187776	104187776	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:104187776G>A	uc004bbk.2	-	6	840	c.758C>T	c.(757-759)aCc>aTc	p.T253I		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	253					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGCTGTTACGGTGGCCATAGC	0.507000														61			30		0	0	0.012213	0	0
IL7R	3575	broad.mit.edu	37	5	35871189	35871189	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:35871189C>T	uc003jjs.3	+	3	500	c.411C>T	c.(409-411)gtC>gtT	p.V137V	IL7R_uc011coo.2_Silent_p.V137V|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	137	Fibronectin type-III.				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)			ACCTGAGTGTCGTCTATCGGG	0.368000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							93			15		0	0	0.004990	0	0
LILRB3	11025	broad.mit.edu	37	19	54803596	54803596	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:54803596C>T	uc002qfd.3	-	2	320	c.228G>A	c.(226-228)gaG>gaA	p.E76E	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.E76E	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	76	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTTCACAAGCTCCTGTGGGA	0.537000														13			20		0	0	0.012319	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976086	120976086	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:120976086C>T	uc003eec.4	+	16	1878	c.1738C>T	c.(1738-1740)Ctc>Ttc	p.L580F	STXBP5L_uc011bji.2_Missense_Mutation_p.L580F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	580					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.L580P(1)		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)		GTTTCCAGATCTCTCAGCCCA	0.403000														58			40		0	0	0.009718	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52714670	52714670	+	Missense_Mutation	SNP	C	T	T	rs112759633		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:52714670C>T	uc002pyp.3	+	3	723	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PPP2R1A_uc010ydk.2_Missense_Mutation_p.S88F|PPP2R1A_uc010epm.1_Missense_Mutation_p.S183F|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	143	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGTTCACCTCCCGCACCTCG	0.642000			Mis		clear cell ovarian carcinoma									31			16		0	0	0.004007	0	0
ATR	545	broad.mit.edu	37	3	142215245	142215245	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:142215245G>A	uc003eux.4	-	33	5978	c.5856C>T	c.(5854-5856)ctC>ctT	p.L1952L		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1952	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACAGTTCAGCGAGTCGTGATT	0.443000								Other conserved DNA damage response genes						18			23		0	0	0.009535	0	0
WAC	51322	broad.mit.edu	37	10	28897258	28897258	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:28897258C>T	uc001iuf.3	+	7	1151	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	WAC_uc001iud.3_Missense_Mutation_p.P310S|WAC_uc001iue.3_Missense_Mutation_p.P45S|WAC_uc009xlb.3_Missense_Mutation_p.P310S|WAC_uc001iug.3_Missense_Mutation_p.P252S|WAC_uc001iuh.3_Missense_Mutation_p.P310S	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	355					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GCCAATACCTCCCTTACTTCA	0.468000														8			19		0	0	0.006122	0	0
MYO16	23026	broad.mit.edu	37	13	109817396	109817396	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:109817396C>T	uc010agk.2	+	32	5934	c.5312C>T	c.(5311-5313)tCc>tTc	p.S1771F	MYO16_uc001vqt.1_Missense_Mutation_p.S1749F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1749					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATGGAAATTCCATCTCAAAT	0.323000														17			25		0	0	0.005443	0	0
OR4K1	79544	broad.mit.edu	37	14	20404103	20404103	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20404103C>T	uc001vwj.2	+	0	337	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAGACTATCTCCTTTGAGGGT	0.403000														118			20		0	0	0.012319	0	0
UBE2U	148581	broad.mit.edu	37	1	64698315	64698315	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:64698315A>G	uc001dbn.1	+	6	822	c.578A>G	c.(577-579)gAa>gGa	p.E193G		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	193							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						AAAGCCACAGAATACTACAGA	0.328000														66			18		0	0	0.007413	0	0
GPR97	222487	broad.mit.edu	37	16	57707263	57707263	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:57707263A>C	uc002emh.3	+	1	192	c.89A>C	c.(88-90)aAc>aCc	p.N30T	GPR97_uc010cdc.3_Missense_Mutation_p.N30T|GPR97_uc010vhv.2_5'UTR|GPR97_uc010cdd.3_Non-coding_Transcript	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	30					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCAAGAAACACCTGCCTG	0.532000														32			7		0	0	0.001984	0	0
AGAP11	119385	broad.mit.edu	37	10	88769290	88769290	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:88769290G>A	uc001kee.2	+	11	2485	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	427	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GGGAAGAGAAGGAACGGTGGA	0.562000														19			59		0	0	0.014410	0	0
LRRC66	339977	broad.mit.edu	37	4	52861333	52861333	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:52861333C>T	uc003gzi.3	-	3	1862	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	619						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTAGAAAATTCCATCTGCGAG	0.502000														12			33		0	0	0.003271	0	0
TNFAIP8L1	126282	broad.mit.edu	37	19	4652031	4652031	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:4652031G>A	uc002max.3	+	1	268	c.150G>A	c.(148-150)acG>acA	p.T50T	TNFAIP8L1_uc021une.1_Silent_p.T50T|TNFAIP8L1_uc021unf.1_Silent_p.T50T	NM_152362	NP_689575	Q8WVP5	TP8L1_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 1 (TNFAIP8L1), transcript variant 2, mRNA.	50										endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGTTCACGCGCAGCCGCA	0.637000														15			4		0	0	0.000602	0	0
CENPJ	55835	broad.mit.edu	37	13	25457366	25457366	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:25457366C>T	uc001upt.4	-	16	4219	c.3966G>A	c.(3964-3966)cgG>cgA	p.R1322R	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	1322					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TAACTCTTATCCGACCGGATC	0.428000														57			53		0	0	0.014410	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921607	12921607	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:12921607G>A	uc001aum.1	+	3	1485	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	466										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCGTCTGAGGAACTGGAGC	0.537000														42			8		0	0	0.007413	0	0
NLRP11	204801	broad.mit.edu	37	19	56297047	56297047	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:56297047G>A	uc010ygf.2	-	11	3757	c.3046C>T	c.(3046-3048)Ccc>Tcc	p.P1016S	NLRP11_uc002qlz.3_Missense_Mutation_p.P863S|NLRP11_uc002qmb.3_Missense_Mutation_p.P917S|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	1016							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)		GACATTCTGGGAAATTTGAAA	0.373000														56			23		0	0	0.003330	0	0
HDC	3067	broad.mit.edu	37	15	50535348	50535348	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:50535348G>A	uc001zxz.3	-	10	1576	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	HDC_uc001zxy.3_Missense_Mutation_p.R155C|HDC_uc010uff.2_Missense_Mutation_p.R379C	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	412					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACCTTTAGACGAAAAACCACC	0.478000														12			14		0	0	0.001855	0	0
LARP1	23367	broad.mit.edu	37	5	154193632	154193632	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:154193632G>A	uc003lvo.3	+	18	3060	c.3036G>A	c.(3034-3036)tcG>tcA	p.S1012S	LARP1_uc021ygh.1_Silent_p.S884S	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	1089							RNA binding|protein binding	p.S1089S(1)		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)			GCCAGCACTCGAACACACAGA	0.607000														16			11		0	0	0.008291	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131574	142131574	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:142131574C>T	uc010lnz.1	-	1	225	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AACTGGGGCCCCTGACCCAGG	0.507000														46			14		0	0	0.001855	0	0
FAM221A	340277	broad.mit.edu	37	7	23724254	23724254	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:23724254C>T	uc003swo.4	+	1	291	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	FAM221A_uc003swq.4_Missense_Mutation_p.L68F|FAM221A_uc003swr.4_Intron|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA.	68																	GGATTGTAAACTTGTGGGCCC	0.348000														19			25		0	0	0.006320	0	0
ATP2A3	489	broad.mit.edu	37	17	3856722	3856723	+	Splice_Site	DNP	CC	TT	TT			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:3856722_3856723CC>TT	uc002fwy.2	-	3	310	c.137_splice	c.e3-1	p.G46_splice	ATP2A3_uc002fwz.2_Splice_Site_p.G46_splice|ATP2A3_uc002fxa.2_Splice_Site_p.G46_splice|ATP2A3_uc002fxb.2_Splice_Site_p.G46_splice|ATP2A3_uc002fxc.2_Splice_Site_p.G46_splice|ATP2A3_uc002fxd.2_Splice_Site_p.G46_splice|ATP2A3_uc002fwx.2_Splice_Site_p.G46_splice	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	46					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACAGGGACTTCCCTGGGAACGG	0.653000														17			5		0	0	0.004672	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884134	228884134	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:228884134G>A	uc002vpq.2	-	6	1483	c.1436C>T	c.(1435-1437)aCc>aTc	p.T479I	SPHKAP_uc002vpp.2_Missense_Mutation_p.T479I|SPHKAP_uc010zlx.1_Missense_Mutation_p.T479I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	479						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)		GATGCTTGAGGTTTCAACAGA	0.532000														35			13		0	0	0.013537	0	0
NPVF	64111	broad.mit.edu	37	7	25266264	25266264	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:25266264G>A	uc003sxo.3	-	1	567	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	Homo sapiens neuropeptide VF precursor (NPVF), mRNA.	174					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	p.P174P(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTTTGATCGGGATTCTGGATT	0.413000														95			19		0	0	0.012319	0	0
AY455283	0	broad.mit.edu	37	12	8048183	8048183	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:8048183G>A	uc001qtp.1	+	1	171	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K						SubName: Full=Uncharacterized protein;																		CACAAAAAAGGAAGACAAGGT	0.473000														35			12		0	0	0.010729	0	0
IL7	3574	broad.mit.edu	37	8	79710372	79710372	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:79710372C>T	uc003ybg.3	-	1	683	c.82G>A	c.(82-84)Gat>Aat	p.D28N	IL7_uc022awh.1_Missense_Mutation_p.D28N|IL7_uc022awi.1_Missense_Mutation_p.D28N|IL7_uc022awj.1_Missense_Mutation_p.D28N|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	28					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						CCTTCAATATCACAATCAGAT	0.343000														44			16		0	0	0.003163	0	0
PAK7	57144	broad.mit.edu	37	20	9547011	9547011	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:9547011C>T	uc002wnl.2	-	5	1556	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	PAK7_uc002wnk.2_Silent_p.Q337Q|PAK7_uc002wnj.2_Silent_p.Q337Q|PAK7_uc010gby.1_Silent_p.Q337Q	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	337	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGGACCATCTGTGCTCGAT	0.532000														55			39		0	0	0.008740	0	0
GRAP	10750	broad.mit.edu	37	17	18925352	18925352	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:18925352C>T	uc002guy.3	-	4	671	c.574G>A	c.(574-576)Gac>Aac	p.D192N		NM_006613	NP_006604	Q13588	GRAP_HUMAN	Homo sapiens GRB2-related adaptor protein (GRAP), mRNA.	192	SH3 2.				Ras protein signal transduction|cell-cell signaling	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					CAGTGGGGGTCTGGGCGCTCC	0.687000														9			3		0	0	0.004672	0	0
MORC1	27136	broad.mit.edu	37	3	108723921	108723921	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:108723921G>A	uc003dxl.3	-	18	2096	c.2009C>T	c.(2008-2010)tCc>tTc	p.S670F	MORC1_uc011bhn.2_Missense_Mutation_p.S649F	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	670					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.S670Y(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TAATACCTGGGATCTCTCAGC	0.338000														68			28		0	0	0.008361	0	0
LRP1B	53353	broad.mit.edu	37	2	141072529	141072529	+	Silent	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:141072529T>G	uc002tvj.1	-	82	13752	c.12780A>C	c.(12778-12780)ggA>ggC	p.G4260G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4260	EGF-like 11.				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)		CGCAAGTTCCTCCATTCTGGC	0.363000										TSP Lung(27;0.18)				36			13		0	0	0.002450	0	0
LARP6	55323	broad.mit.edu	37	15	71125175	71125175	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:71125175C>T	uc002ass.3	-	2	763	c.692G>A	c.(691-693)cGg>cAg	p.R231Q		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	231					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TTTGAGGATCCGCACTGATGA	0.582000														15			8		0	0	0.003080	0	0
TMC5	79838	broad.mit.edu	37	16	19485494	19485494	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:19485494C>T	uc002dgc.4	+	11	2735	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	TMC5_uc010vaq.2_Silent_p.F610F|TMC5_uc002dgb.4_Silent_p.F662F|TMC5_uc010var.2_Silent_p.F662F|TMC5_uc002dgd.1_Silent_p.F416F|TMC5_uc002dge.4_Silent_p.F416F|TMC5_uc002dgf.4_Silent_p.F345F|TMC5_uc002dgg.4_Silent_p.F303F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	662						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TACTGCCTTTCGTTGTGTCCT	0.547000														71			15		0	0	0.003163	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986533	51986533	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:51986533G>A	uc002pwv.1	+	4	1119	c.1119G>A	c.(1117-1119)agG>agA	p.R373R		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	373	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACGTCAGGATCCAGGCCC	0.597000														20			9		0	0	0.004482	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645918	51645918	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:51645918C>T	uc002pvv.1	+	0	361	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	SIGLEC7_uc002pvw.1_Missense_Mutation_p.L98F|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.L98F	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	98	Ig-like V-type.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATTCCACCTCCTTGGGGACCC	0.517000														54			20		0	0	0.012319	0	0
MUC5B	727897	broad.mit.edu	37	11	1265002	1265003	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:1265002_1265003CC>TT	uc001lta.3	+	30	6951_6952	c.6892_6893CC>TT	c.(6892-6894)ccc>TTc	p.P2298F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2298	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCCTGCTGCCCAGCAGCCCC	0.683000														42			12		0	0	0.004672	0	0
POP1	10940	broad.mit.edu	37	8	99162864	99162864	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:99162864A>T	uc003yij.4	+	13	2154	c.2054A>T	c.(2053-2055)aAa>aTa	p.K685I	POP1_uc011lgv.2_Missense_Mutation_p.K685I|POP1_uc003yik.3_Missense_Mutation_p.K685I	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	685					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAAAAGTACAAAAGGTAAGAA	0.413000														24			8		0	0	0.004482	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257784	41257784	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:41257784C>T	uc003azj.3	-	0	347	c.215G>A	c.(214-216)gGa>gAa	p.G72E	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	72					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TCCGTTTAATCCTTCTGTGCC	0.358000														38			154		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179402191	179402191	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:179402191G>T	uc021vsy.1	-	303	92264	c.92039C>A	c.(92038-92040)aCt>aAt	p.T30680N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T24375N|TTN_uc021vta.1_Missense_Mutation_p.T24308N|TTN_uc021vtb.1_Missense_Mutation_p.T24183N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31607	Ig-like 138.						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)			ATAGTGCTCAGTGTTTTCAAT	0.413000														24			8		0.000274275	0.000439538	0.004482	1	0
DNAJC15	29103	broad.mit.edu	37	13	43652761	43652761	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:43652761A>G	uc001uyy.3	+	3	649	c.248A>G	c.(247-249)tAc>tGc	p.Y83C		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 15 (DNAJC15), mRNA.	83						integral to membrane	heat shock protein binding			endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		TTTTCATCCTACTATAAAGGA	0.408000														20			5		0	0	0.000602	0	0
SIM1	6492	broad.mit.edu	37	6	100841376	100841376	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:100841376G>A	uc003pqj.4	-	9	2024	c.1557C>T	c.(1555-1557)gtC>gtT	p.V519V	SIM1_uc021zdg.1_Silent_p.V519V|SIM1_uc010kcu.3_Silent_p.V519V	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	519	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.V519I(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATCCTGTGGACTGAAGCGA	0.552000														48			11		0	0	0.001855	0	0
HADHA	3030	broad.mit.edu	37	2	26462009	26462009	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:26462009A>C	uc002rgy.3	-	1	200	c.70T>G	c.(70-72)Tat>Gat	p.Y24D	HADHA_uc010yks.2_5'UTR|HADHA_uc010ykt.1_5'UTR	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	24					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CGGCATATATAACCTGTAAGA	0.274000														114			55		0	0	0.014410	0	0
LRRTM2	26045	broad.mit.edu	37	5	138209934	138209934	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:138209934G>A	uc011cyz.1	-	1	773	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Intron|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	106						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TATAGTCCTTGAAAAGCATCT	0.338000														52			12		0	0	0.010729	0	0
OTOL1	131149	broad.mit.edu	37	3	161214851	161214851	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:161214851C>T	uc011bpb.2	+	0	256	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	86						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CACTCTCTCTCCCTTTGAAAA	0.463000														40			42		0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158604457	158604457	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:158604457T>G	uc001fst.1	-	38	5640	c.5441A>C	c.(5440-5442)aAg>aCg	p.K1814T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1814					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCTTCCAACTTAAGTCCTCT	0.463000														43			11		0	0	0.008291	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928122	13928122	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:13928122C>T	uc002mxh.1	+	6	1462	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	ZSWIM4_uc010xng.1_Silent_p.L348L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	425							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CAGGGCGCTCCTGGAGGCCTG	0.632000														28			20		0	0	0.010504	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659461	43659461	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:43659461C>T	uc001jan.3	+	4	1463	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	376					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGCCGAATTCCTTAACAGCT	0.438000														12			34		0	0	0.004289	0	0
COL4A3	1285	broad.mit.edu	37	2	228172560	228172560	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:228172560G>A	uc002vom.2	+	47	4549	c.4387G>A	c.(4387-4389)Ggg>Agg	p.G1463R	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'UTR|COL4A3_uc021vxt.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1463	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGTCCAGAGGGGACAGTGCC	0.502000														41			19		0	0	0.010504	0	0
SPATA17	128153	broad.mit.edu	37	1	217947879	217947879	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:217947879G>A	uc001hlh.1	+	7	749	c.723_splice	c.e7+1	p.Q241_splice	SPATA17_uc009xdr.1_Splice_Site	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	241						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGCAATGTCAGGTACTAGTTT	0.333000														10			12		0	0	0.010729	0	0
C17orf104	284071	broad.mit.edu	37	17	42745072	42745072	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:42745072G>A	uc002iha.3	+	4	2013	c.1793G>A	c.(1792-1794)gGg>gAg	p.G598E	C17orf104_uc002igy.1_Missense_Mutation_p.G432E|C17orf104_uc002igz.3_Missense_Mutation_p.G432E|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	598										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CAGAAGTATGGGATAATTGAA	0.358000														6			10		0	0	0.006214	0	0
PKHD1	5314	broad.mit.edu	37	6	51656141	51656141	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:51656141G>A	uc003pah.1	-	52	8609	c.8333C>T	c.(8332-8334)cCa>cTa	p.P2778L	PKHD1_uc010jzn.1_Missense_Mutation_p.P761L|PKHD1_uc003pai.3_Missense_Mutation_p.P2778L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2778	G8 2.				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)					TTTGAAGAATGGAAGATCTGT	0.453000														21			4		0	0	0.009096	0	0
PDE11A	50940	broad.mit.edu	37	2	178936519	178936519	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:178936519G>A	uc002ulq.3	-	0	964	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	216					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GTGAGGTCAAGGTCATTGGAG	0.502000									Primary Pigmented Nodular Adrenocortical Disease, Familial					58			29		0	0	0.013726	0	0
RPS18	6222	broad.mit.edu	37	6	33243639	33243639	+	Silent	SNP	G	A	A	rs142232404	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:33243639G>A	uc003odp.1	+	2	213	c.168G>A	c.(166-168)gcG>gcA	p.A56A	RPS18_uc010jum.1_Non-coding_Transcript|B3GALT4_uc003odr.3_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	Homo sapiens ribosomal protein S18 (RPS18), mRNA.	56					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CCAAGAGGGCGGGAGAACTCA	0.552000														66			12		0	0	0.010729	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68213613	68213613	+	Missense_Mutation	SNP	G	A	A	rs144506580		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:68213613G>A	uc003xxo.2	-	2	548	c.158C>T	c.(157-159)cCt>cTt	p.P53L		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	53					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCATGAGGAGGACTAAATGA	0.348000														49			17		0	0	0.008871	0	0
CRMP1	1400	broad.mit.edu	37	4	5841406	5841406	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:5841406C>T	uc003gis.3	-	9	1243	c.1154_splice	c.e9-1	p.G385_splice	CRMP1_uc003giq.3_Splice_Site_p.G271_splice|CRMP1_uc003gir.3_Splice_Site_p.G266_splice	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	271					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ACTAGGGGCCCTTAGGAGGGG	0.547000														1			6		0	0	0.001168	0	0
TCF20	6942	broad.mit.edu	37	22	42608428	42608428	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:42608428G>A	uc003bcj.1	-	0	3018	c.2884C>T	c.(2884-2886)Cgc>Tgc	p.R962C	TCF20_uc003bck.1_Missense_Mutation_p.R962C	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	962					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						GCATTGCCGCGGTAAGACTCA	0.522000														26			98		0	0	0.014410	0	0
DNHD1	144132	broad.mit.edu	37	11	6520067	6520067	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:6520067G>A	uc001mdw.4	+	2	1186	c.622G>A	c.(622-624)Gag>Aag	p.E208K	DNHD1_uc001mdp.3_Missense_Mutation_p.E208K	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	208					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)		GGCCCTAGAAGAGGCTGTGTG	0.577000														72			16		0	0	0.006122	0	0
DNM3	26052	broad.mit.edu	37	1	172011255	172011255	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:172011255C>T	uc001gie.3	+	7	1275	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y	DNM3_uc001gid.4_Missense_Mutation_p.H367Y|DNM3_uc009wwb.2_Missense_Mutation_p.H367Y|DNM3_uc001gif.3_Missense_Mutation_p.H367Y	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	367					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTATTTTTCATGAACGCTT	0.358000														39			23		0	0	0.012319	0	0
MUC2	4583	broad.mit.edu	37	11	1090912	1090912	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:1090912C>T	uc001lsx.1	+	27	3834	c.3807C>T	c.(3805-3807)acC>acT	p.T1269T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1269						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccttcaccaccatcaccc	0.617000														5			5		0	0	0.000602	0	0
BAI3	577	broad.mit.edu	37	6	70064197	70064197	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:70064197C>T	uc010kak.3	+	25	3808	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	BAI3_uc003pev.4_Missense_Mutation_p.P1178S|BAI3_uc011dxx.2_Missense_Mutation_p.P384S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1178					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)				GAGTTCGTTTCCTAATGGGCA	0.383000														62			19		0	0	0.002780	0	0
LHX1	3975	broad.mit.edu	37	17	35300123	35300123	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:35300123C>T	uc002hnh.2	+	4	1639	c.916C>T	c.(916-918)Cag>Tag	p.Q306*		NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	306					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CTCGCAGGCCCAGACACCAGT	0.716000														2			3		0	0	0.004672	0	0
FAM83B	222584	broad.mit.edu	37	6	54806173	54806173	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:54806173A>G	uc003pck.3	+	4	2520	c.2404A>G	c.(2404-2406)Agt>Ggt	p.S802G		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	802								p.C801F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGATTGTGTAGTAGCTCTGA	0.363000														42			5		0	0	0.003080	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578322	14578322	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:14578322C>T	uc001rbw.3	+	1	1631	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	ATF7IP_uc010shs.1_Silent_p.A491A|ATF7IP_uc001rbu.3_Silent_p.A491A|ATF7IP_uc001rbv.1_Silent_p.A491A|ATF7IP_uc001rbx.3_Silent_p.A491A|ATF7IP_uc010sht.1_Silent_p.A491A|ATF7IP_uc001rby.4_Silent_p.A491A|ATF7IP_uc001rbz.1_Silent_p.A491A|ATF7IP_uc001rca.3_Silent_p.A491A|ATF7IP_uc001rcb.3_Silent_p.A102A	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	491	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAAAAGAAGCCTTTCTGGTCC	0.383000														33			10		0	0	0.006214	0	0
HHATL	57467	broad.mit.edu	37	3	42739839	42739839	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:42739839C>T	uc003clw.3	-	6	635	c.488G>A	c.(487-489)gGg>gAg	p.G163E	HHATL_uc003clx.3_Missense_Mutation_p.G163E	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	163					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGTTACAAACCCGCTCTGGAG	0.577000														24			14		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9048458	9048458	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9048458G>A	uc002mkp.3	-	4	33377	c.33173C>T	c.(33172-33174)cCa>cTa	p.P11058L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11060	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATCAGAGTTGGAATACTTGT	0.488000														31			21		0	0	0.012319	0	0
MUC2	4583	broad.mit.edu	37	11	1085744	1085744	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:1085744G>A	uc001lsx.1	+	21	2692	c.2665_splice	c.e21-1	p.D889_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	889	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGCCCCCAGGACTACTGCGG	0.637000														13			10		0	0	0.006214	0	0
TRPS1	7227	broad.mit.edu	37	8	116616576	116616576	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:116616576G>A	uc003yny.3	-	3	2198	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	TRPS1_uc011lhy.2_Silent_p.F531F|TRPS1_uc003ynz.3_Silent_p.F527F|TRPS1_uc010mcy.3_Silent_p.F527F	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	527					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAAGTCACAGAACTGACAAT	0.458000									Langer-Giedion syndrome					67			50		0	0	0.014410	0	0
OAS3	4940	broad.mit.edu	37	12	113400697	113400697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:113400697C>T	uc001tug.3	+	8	2161	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	692	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGCCAGCTTCGAAAACCCAG	0.567000														108			31		0	0	0.004289	0	0
ZNF470	388566	broad.mit.edu	37	19	57088460	57088460	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:57088460C>T	uc002qnl.4	+	5	1339	c.663C>T	c.(661-663)gaC>gaT	p.D221D	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D221G(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACAAGCAAGACCGTGGAGAAA	0.308000														29			18		0	0	0.008871	0	0
RYR3	6263	broad.mit.edu	37	15	33842517	33842517	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:33842517G>A	uc001zhi.3	+	10	1042	c.972_splice	c.e10+1	p.K324_splice	RYR3_uc010bar.3_Splice_Site_p.K324_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	324	MIR 4.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGCATCAAAGGTAAGGTGTG	0.468000														10			6		0	0	0.001168	0	0
FAM47C	442444	broad.mit.edu	37	X	37026709	37026709	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:37026709T>A	uc004ddl.2	+	0	278	c.226T>A	c.(226-228)Ttt>Att	p.F76I		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	76								p.F76I(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCGTGACGAGTTTTTACTCCC	0.527000														15			16		0	0	0.004990	0	0
MMP11	4320	broad.mit.edu	37	22	24122788	24122788	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:24122788C>T	uc002zxx.3	+	3	524	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	168					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				TGGGGACGACCTGCCGTTTGA	0.632000														5			28		0	0	0.009535	0	0
KRT24	192666	broad.mit.edu	37	17	38859788	38859788	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:38859788C>T	uc002hvd.3	-	0	215	c.158G>A	c.(157-159)aGt>aAt	p.S53N		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	53	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGACCCCCCACTCAGGCTGCA	0.637000														18			14		0	0	0.002450	0	0
KIAA0182	23199	broad.mit.edu	37	16	85688528	85688528	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:85688528C>T	uc002fix.3	+	4	802	c.728C>T	c.(727-729)cCg>cTg	p.P243L	KIAA0182_uc002fiw.3_Missense_Mutation_p.P139L|KIAA0182_uc002fiy.3_Missense_Mutation_p.P170L	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	243							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						GGCCTGGACCCGGCCACTGCT	0.682000														11			5		0	0	0.001168	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503257	140503257	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140503257C>T	uc003lip.1	+	0	1677	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	559	Cadherin 5.				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)			ACTCGCCCTTCGTGCTGTACC	0.701000														16			11		0	0	0.007413	0	0
CCDC153	283152	broad.mit.edu	37	11	119063891	119063891	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:119063891C>T	uc010rze.2	-	4	533	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	107										lung(3)|stomach(1)	4						TTGACTTCTTCCTCCAGCTGC	0.617000														24			23		0	0	0.003330	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245343	84245343	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:84245343G>A	uc002bjw.3	+	5	669	c.474G>A	c.(472-474)ctG>ctA	p.L158L	SH3GL3_uc010uot.1_Silent_p.L158L|SH3GL3_uc002bjx.3_Silent_p.L89L|SH3GL3_uc002bju.3_Silent_p.L166L|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	158	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGCATCACCTGAAAAAGCTGG	0.388000														21			16		0	0	0.006122	0	0
ZNF578	147660	broad.mit.edu	37	19	53007995	53007995	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:53007995G>A	uc002pzp.4	+	4	395	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTTGTACAGGGAAGTGATGTT	0.498000														45			40		0	0	0.006999	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853302	70853302	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:70853302C>T	uc003tvy.3	+	2	504	c.504C>T	c.(502-504)atC>atT	p.I168I	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	168	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGTCGGTGATCCTGCGGTCCG	0.557000														14			20		0	0	0.012319	0	0
GPR137B	7107	broad.mit.edu	37	1	236343179	236343179	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:236343179G>A	uc001hxq.3	+	4	779	c.688_splice	c.e4-1	p.G230_splice		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	230						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCTTTTCCAGGGCTCCTCCGT	0.552000														58			15		0	0	0.006122	0	0
CDH24	64403	broad.mit.edu	37	14	23523812	23523812	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:23523812G>A	uc001wil.3	-	4	947	c.687C>T	c.(685-687)gcC>gcT	p.A229A	CDH24_uc010akf.3_Silent_p.A229A|CDH24_uc001win.3_Silent_p.A229A	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	229	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCATGTCCTTGGCCTGGATCA	0.602000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			8		0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82545849	82545849	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:82545849T>G	uc003uhx.2	-	6	11742	c.11453A>C	c.(11452-11454)aAg>aCg	p.K3818T	PCLO_uc003uhv.2_Missense_Mutation_p.K3818T|PCLO_uc010lec.3_Missense_Mutation_p.K783T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3749	Gln-rich.				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						TCGTTCTCTCTTTTCTCTCTC	0.453000														37			40		0	0	0.006999	0	0
FGFR4	2264	broad.mit.edu	37	5	176517572	176517572	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:176517572C>T	uc003mfl.3	+	2	440	c.273C>T	c.(271-273)ttC>ttT	p.F91F	FGFR4_uc003mfm.3_Silent_p.F91F|FGFR4_uc011dfu.2_Silent_p.F91F|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Silent_p.F91F|FGFR4_uc011dfw.1_Silent_p.F91F|FGFR4_uc003mfo.3_Silent_p.F91F	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	91	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TTGCCAGCTTCCTACCTGAGG	0.627000										TSP Lung(9;0.080)				15			13		0	0	0.013537	0	0
MYO15A	51168	broad.mit.edu	37	17	18023226	18023226	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:18023226C>T	uc021trm.1	+	0	1331	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	MYO15A_uc021trl.1_Missense_Mutation_p.P371L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	371	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TACTTTGATCCCTACGGAGTC	0.592000														37			14		0	0	0.001855	0	0
CREG1	8804	broad.mit.edu	37	1	167515488	167515488	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:167515488G>A	uc001gel.3	-	2	587	c.509C>T	c.(508-510)tCg>tTg	p.S170L		NM_003851	NP_003842	O75629	CREG1_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 1 (CREG1), mRNA.	170					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										AATGAATAACGAATGCTTTGC	0.353000														33			26		0	0	0.005443	0	0
C1orf65	164127	broad.mit.edu	37	1	223568396	223568396	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:223568396G>A	uc001hoa.2	+	0	1682	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	527										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GACCACTAGGGACAAGGTGCA	0.542000														33			18		0	0	0.012319	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674823	71674823	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:71674823G>A	uc002fau.3	+	2	1189	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	379	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CGCCAGCGTGGTGCTGGCCCT	0.597000														12			11		0	0	0.008291	0	0
HYDIN	54768	broad.mit.edu	37	16	70917885	70917885	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:70917885C>T	uc002ezr.3	-	58	10065	c.9914G>A	c.(9913-9915)cGa>cAa	p.R3305Q		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3306										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)				TGCAGGGTCTCGGCCGGAGAT	0.537000														25			5		0	0	0.001168	0	0
GRIK3	2899	broad.mit.edu	37	1	37271706	37271706	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:37271706C>T	uc001caz.2	-	14	2449	c.2314_splice	c.e14+1	p.G772_splice	GRIK3_uc001cba.1_Splice_Site_p.G772_splice	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	772					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTCGCTCACCCATGGGCGTGC	0.652000														17			12		0	0	0.003163	0	0
GDPD2	54857	broad.mit.edu	37	X	69645640	69645640	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:69645640G>A	uc011mpk.2	+	3	598	c.237G>A	c.(235-237)tgG>tgA	p.W79*	GDPD2_uc010nkx.2_Nonsense_Mutation_p.W79*|GDPD2_uc010nky.2_Intron|GDPD2_uc004dyh.3_Nonsense_Mutation_p.W79*|GDPD2_uc011mpl.2_5'UTR|GDPD2_uc011mpm.2_5'UTR	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	79					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGGGACACTGGATGGACTGGT	0.617000														13			23		0	0	0.008361	0	0
GFRAL	389400	broad.mit.edu	37	6	55223918	55223918	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:55223918C>T	uc003pcm.1	+	5	1020	c.934C>T	c.(934-936)Cat>Tat	p.H312Y		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	312						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCACATGCTTCATAGAAAATC	0.338000														25			16		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179462310	179462310	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:179462310T>G	uc021vsy.1	-	242	50020	c.49795A>C	c.(49795-49797)Aat>Cat	p.N16599H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N10294H|TTN_uc021vta.1_Missense_Mutation_p.N10227H|TTN_uc021vtb.1_Missense_Mutation_p.N10102H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17526	Fibronectin type-III 20.						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)			CCGGCTTCATTTTTGGCAAGA	0.383000														34			21		0	0	0.008871	0	0
ADCY8	114	broad.mit.edu	37	8	131916041	131916041	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:131916041C>T	uc003ytd.4	-	6	2144	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N	ADCY8_uc010mds.3_Missense_Mutation_p.D630N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	630					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACGATATTATCAAAGGGCAGT	0.507000										HNSCC(32;0.087)				37			18		0	0	0.006122	0	0
OR6X1	390260	broad.mit.edu	37	11	123624405	123624405	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:123624405C>T	uc010rzy.2	-	0	822	c.822G>A	c.(820-822)gtG>gtA	p.V274V		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAGTATTTAGCACAGACACCA	0.458000														40			37		0	0	0.003755	0	0
LAMB2	3913	broad.mit.edu	37	3	49159020	49159020	+	Silent	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:49159020T>C	uc003cwe.3	-	30	5405	c.5106A>G	c.(5104-5106)ctA>ctG	p.L1702L	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1702	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGACCGCGTAGCAGCTGCA	0.612000														27			4		0	0	0.009096	0	0
EIF2C1	26523	broad.mit.edu	37	1	36383199	36383199	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:36383199C>T	uc001bzl.3	+	15	2247	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	EIF2C1_uc001bzk.3_Silent_p.L603L|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	678	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTAGATACTCCACTATGAGC	0.448000														110			37		0	0	0.007835	0	0
SLC25A14	9016	broad.mit.edu	37	X	129474280	129474280	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:129474280A>T	uc004evr.1	+	0	200	c.28A>T	c.(28-30)Att>Ttt	p.I10F	SLC25A14_uc010nrg.3_Missense_Mutation_p.I10F|SLC25A14_uc011mut.2_Intron|SLC25A14_uc011muu.2_Missense_Mutation_p.I10F|SLC25A14_uc004evp.1_Missense_Mutation_p.I10F|SLC25A14_uc004evq.1_Missense_Mutation_p.I10F	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	10					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AATAATCCTAATTTTTCTAAG	0.498000														23			27		0	0	0.012213	0	0
RRM2	6241	broad.mit.edu	37	2	10267090	10267090	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:10267090A>C	uc021vdr.1	+	5	889	c.838A>C	c.(838-840)Acc>Ccc	p.T280P		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	220					DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CAAAGAGGCTACCTATGGTAA	0.458000														59			17		0	0	0.006122	0	0
CD79A	973	broad.mit.edu	37	19	42381431	42381431	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:42381431C>T	uc002orv.3	+	0	242	c.57C>T	c.(55-57)ttC>ttT	p.F19F	CD79A_uc002oru.3_Silent_p.F19F	NM_001783	NP_001774	P11912	CD79A_HUMAN	Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA.	19					B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	p.L18L(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TCCTCCTCTTCCTGCTGTCTG	0.607000			"""O, S"""		DLBCL									26			22		0	0	0.003954	0	0
PTGFRN	5738	broad.mit.edu	37	1	117487403	117487403	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:117487403C>T	uc001egv.1	+	2	658	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	174	Ig-like C2-type 2.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCCGCCTCCGCCTCGCCGCTG	0.781000														2			3		0	0	0.004672	0	0
HARS	3035	broad.mit.edu	37	5	140062741	140062741	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140062741G>A	uc003lgv.3	-	2	326	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	HARS_uc003lgu.3_Missense_Mutation_p.R13C|HARS_uc011czm.2_Intron|HARS_uc003lgw.3_Missense_Mutation_p.R82C|HARS_uc011czn.2_Intron|HARS_uc011czo.2_Missense_Mutation_p.R82C|HARS_uc011czp.2_Intron|HARS_uc011czq.2_Missense_Mutation_p.R82C	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	82					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TTGAAGCAACGGATGATTACG	0.483000														48			17		0	0	0.006122	0	0
OR5D13	390142	broad.mit.edu	37	11	55541419	55541419	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:55541419C>T	uc010ril.2	+	0	506	c.506C>T	c.(505-507)tCg>tTg	p.S169L		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	169					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)				CTTGACTTATCGTTTTGTGAA	0.418000														41			20		0	0	0.007413	0	0
OR2T34	127068	broad.mit.edu	37	1	248737705	248737705	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248737705G>A	uc001iep.1	-	0	354	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			CAGCCAGGAGGAAAACCTCAG	0.562000														24			20		0	0	0.004656	0	0
SCEL	8796	broad.mit.edu	37	13	78187050	78187050	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:78187050C>T	uc001vki.3	+	22	1532	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	SCEL_uc010thx.2_Silent_p.I412I|SCEL_uc001vkj.3_Silent_p.I434I	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	454	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAATCTTATCAAAGTGATCC	0.264000														36			21		0	0	0.005443	0	0
PIGA	5277	broad.mit.edu	37	X	15344095	15344095	+	Silent	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:15344095T>C	uc004cwr.3	-	2	905	c.789A>G	c.(787-789)ggA>ggG	p.G263G	PIGA_uc010neu.3_5'Flank|PIGA_uc010nev.3_Intron|PIGA_uc004cwq.3_5'UTR|PIGA_uc004cws.3_5'UTR|PIGA_uc011miq.2_Silent_p.G29G	NM_002641	NP_002632	P37287	PIGA_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class A (PIGA), transcript variant 1, mRNA.	263					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TTGGTCCCTCTCCTCCAATTA	0.373000														50			36		0	0	0.003271	0	0
ANK2	287	broad.mit.edu	37	4	114294517	114294517	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:114294517C>T	uc003ibe.4	+	44	11871	c.11771C>T	c.(11770-11772)cCa>cTa	p.P3924L	ANK2_uc003ibd.4_Missense_Mutation_p.P1830L|ANK2_uc003ibf.4_Missense_Mutation_p.P1839L|ANK2_uc011cgc.2_Missense_Mutation_p.P1015L|ANK2_uc003ibg.4_Missense_Mutation_p.P854L|ANK2_uc003ibh.4_Missense_Mutation_p.P544L|ANK2_uc010ims.3_Missense_Mutation_p.P6L|ANK2_uc010imr.3_Missense_Mutation_p.P6L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3891					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)		CAGGGAATGCCACAGGAACCT	0.433000														23			45		0	0	0.013114	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136159	40136159	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:40136159G>T	uc021qgf.1	-	0	1684	c.1684C>A	c.(1684-1686)Cca>Aca	p.P562T	LRRC4C_uc001mxc.1_Missense_Mutation_p.P558T|LRRC4C_uc001mxd.1_Missense_Mutation_p.P558T|LRRC4C_uc001mxa.1_Missense_Mutation_p.P562T|LRRC4C_uc001mxb.1_Missense_Mutation_p.P558T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	562					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTCCTTGTTGGGGCGTGATGG	0.493000														34			19		9.7654e-05	0.000156939	0.007413	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12856118	12856118	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:12856118G>A	uc001auj.2	+	3	1501	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	466										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCGTCTGAGGAACTGGAGC	0.542000														79			10		0	0	0.002450	0	0
IMPG2	50939	broad.mit.edu	37	3	100961721	100961721	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:100961721C>T	uc003duq.2	-	13	3036	c.2833G>A	c.(2833-2835)Ggg>Agg	p.G945R	IMPG2_uc011bhe.2_Missense_Mutation_p.G808R	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	945	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.T944T(1)		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						TTCTGGAACCCCGTGAGATTT	0.408000														37			19		0	0	0.012319	0	0
BMP5	653	broad.mit.edu	37	6	55625290	55625290	+	Missense_Mutation	SNP	C	T	T	rs147691986		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:55625290C>T	uc003pcq.3	-	4	1781	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	BMP5_uc011dxf.2_Missense_Mutation_p.E357K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	357					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACATAGAGTTCGTGCTTCTTA	0.348000														39			9		0	0	0.008291	0	0
CHODL	140578	broad.mit.edu	37	21	19629025	19629025	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:19629025G>A	uc002ykv.3	+	1	670	c.279G>A	c.(277-279)ggG>ggA	p.G93G	CHODL_uc002ykr.3_Silent_p.G52G|CHODL_uc002yks.3_Silent_p.G52G|CHODL_uc021whr.1_Silent_p.G52G|CHODL_uc002ykt.3_Silent_p.G52G|CHODL_uc002yku.3_Silent_p.G52G|CHODL_uc021whs.1_Silent_p.G74G	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	93	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CCGGGACAGGGATTTCTGATG	0.488000														55			34		0	0	0.007835	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223026	99223026	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:99223026C>T	uc001tge.2	-	18	3409	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc001tgk.3_Missense_Mutation_p.D295N|ANKS1B_uc010svd.2_Missense_Mutation_p.D4N|ANKS1B_uc001tgd.2_Intron|ANKS1B_uc009ztp.3_Missense_Mutation_p.D4N|ANKS1B_uc010svf.2_Missense_Mutation_p.D4N|ANKS1B_uc010sve.2_Missense_Mutation_p.D4N|ANKS1B_uc001tgh.4_Missense_Mutation_p.D4N|ANKS1B_uc009ztr.3_Intron|ANKS1B_uc001tgj.3_Intron|ANKS1B_uc001tgi.3_Missense_Mutation_p.D224N|ANKS1B_uc009zts.2_Missense_Mutation_p.D224N|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Intron	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	998						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCCTTGCATCGCCCTGCATG	0.463000														73			46		0	0	0.014410	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451602	37451602	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:37451602C>T	uc021ppc.1	+	15	1857	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	ANKRD30A_uc001iza.1_Silent_p.F586F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	642						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F586L(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328000														34			40		0	0	0.013114	0	0
ROBO4	54538	broad.mit.edu	37	11	124756364	124756364	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:124756364G>T	uc001qbg.3	-	15	2930	c.2790C>A	c.(2788-2790)ttC>ttA	p.F930L	ROBO4_uc010sas.2_Missense_Mutation_p.F785L|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Missense_Mutation_p.F488L	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	930					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACATACCTATGAAGACGCAGT	0.498000														31			19		1.01871e-10	1.64886e-10	0.008871	1	0
RYR3	6263	broad.mit.edu	37	15	33858941	33858941	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:33858941G>A	uc001zhi.3	+	11	1279	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	RYR3_uc010bar.3_Silent_p.E403E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	403					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R402C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCAGCGTGAGGAGTCCCAGG	0.517000														35			28		0	0	0.007291	0	0
KIF21B	23046	broad.mit.edu	37	1	200967659	200967659	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:200967659C>T	uc001gvs.2	-	13	2247	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K	KIF21B_uc009wzl.2_Missense_Mutation_p.E644K|KIF21B_uc001gvr.2_Missense_Mutation_p.E644K|KIF21B_uc010ppn.2_Missense_Mutation_p.E644K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	644					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCTTGATTTCGATCTCACAA	0.567000														39			30		0	0	0.008361	0	0
DPPA4	55211	broad.mit.edu	37	3	109049504	109049504	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:109049504G>A	uc003dxq.4	-	4	601	c.546C>T	c.(544-546)tcC>tcT	p.S182S	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Silent_p.S182S	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	182						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GGAGAGCAGTGGAATTTTCCA	0.557000														52			26		0	0	0.005443	0	0
B2M	567	broad.mit.edu	37	15	45003812	45003812	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:45003812G>A	uc001zuc.3	+	1	127	c.67_splice	c.e1+1	p.R23_splice	B2M_uc010uek.1_Splice_Site_p.R23_splice|B2M_uc010bdx.1_Splice_Site_p.R23_splice	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	23					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTATCCAGCGTGAGTCTCTC	0.617000														12			8		0	0	0.004482	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120229	46120229	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:46120229C>T	uc001coq.3	-	5	1824	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCCTCCTCTTCAAACTGCAAC	0.408000														70			26		0	0	0.007291	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64558776	64558776	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:64558776C>T	uc003jtp.3	-	12	2448	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.G166E	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	545	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AACACAATCTCCCTGATAACA	0.512000														13			11		0	0	0.013537	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					28			25		0	0	0.005443	0	0
CLPTM1	1209	broad.mit.edu	37	19	45476417	45476417	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:45476417G>T	uc002pai.3	+	2	313	c.259G>T	c.(259-261)Gga>Tga	p.G87*	CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Nonsense_Mutation_p.G73*	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	87					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGGCCCCGGAGGAGCTCCACG	0.632000														96			68		1.4533e-46	2.38291e-46	0.014410	1	0
OR6B2	389090	broad.mit.edu	37	2	240969565	240969565	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:240969565G>A	uc010zoc.2	-	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	OR6B2_uc002vyr.3_Silent_p.F94F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCACCCGACGAAAGAGATGC	0.572000														21			11		0	0	0.002450	0	0
GNAS	2778	broad.mit.edu	37	20	57428691	57428691	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:57428691C>T	uc002xzw.3	+	0	656	c.371C>T	c.(370-372)cCc>cTc	p.P124L	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTGGATTCCCCAGTGGGGTC	0.632000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				28			12		0	0	0.002450	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174764	140174764	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140174764G>A	uc003lhd.2	+	0	321	c.215G>A	c.(214-216)gGg>gAg	p.G72E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.G72E|PCDHAC2_uc011czy.2_Missense_Mutation_p.G72E	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	89	Cadherin 1.				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)			AAAAGACACGGGGACCTTCTG	0.622000														48			34		0	0	0.005524	0	0
GALNT8	26290	broad.mit.edu	37	12	4848473	4848473	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:4848473G>A	uc001qne.1	+	2	746	c.654G>A	c.(652-654)ttG>ttA	p.L218L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	218	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAATCATCTTGGTGGATGATT	0.418000														44			12		0	0	0.013537	0	0
FSD1	79187	broad.mit.edu	37	19	4318404	4318404	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:4318404C>T	uc002lzy.2	+	8	1014	c.861C>T	c.(859-861)tcC>tcT	p.S287S	FSD1_uc002maa.2_Silent_p.S100S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	287	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGATCTCTCCGTGGAGTGGG	0.627000														15			8		0	0	0.004482	0	0
MDFI	4188	broad.mit.edu	37	6	41613945	41613945	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:41613945C>T	uc003oqq.4	+	2	365	c.158C>T	c.(157-159)tCc>tTc	p.S53F	MDFI_uc010jxn.3_Missense_Mutation_p.S53F	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	53					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GAGGAGGGCTCCCTGGAGGAG	0.627000														19			16		0	0	0.006122	0	0
ADAM10	102	broad.mit.edu	37	15	58902632	58902632	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:58902632G>A	uc002afd.1	-	13	2333	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.S329F|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.S167F	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	630	Cys-rich.				Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GTTGCAAGGGGATCCAGGTTG	0.468000														32			17		0	0	0.004990	0	0
SHC1	6464	broad.mit.edu	37	1	154941262	154941262	+	Silent	SNP	C	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:154941262C>A	uc001ffv.3	-	2	836	c.615G>T	c.(613-615)gcG>gcT	p.A205A	SHC1_uc001ffw.3_Silent_p.A205A|SHC1_uc001ffx.3_Silent_p.A95A|SHC1_uc001ffy.3_Silent_p.A95A|SHC1_uc001ffz.1_5'Flank	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	205	PID.		A -> V (in dbSNP:rs8191981).		Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCTCCTTGTCGCCCCCTTAG	0.637000														42			38		2.01872e-29	3.29568e-29	0.014410	1	0
PCDHB15	56121	broad.mit.edu	37	5	140626131	140626131	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140626131G>A	uc003lje.3	+	0	985	c.985G>A	c.(985-987)Gga>Aga	p.G329R		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	329	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACTTTCTGGAAAATGCTC	0.413000														60			19		0	0	0.008871	0	0
RBKS	64080	broad.mit.edu	37	2	28113191	28113192	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:28113191_28113192GG>AA	uc002rlo.1	-	0	32_33	c.21_22CC>TT	c.(19-24)ccccag>ccTTag	p.Q8*	BRE_uc002rlp.1_5'Flank|BRE_uc002rlq.3_5'Flank|BRE_uc002rlr.3_5'Flank|BRE_uc002rls.3_5'Flank|BRE_uc002rlt.3_5'Flank|BRE_uc002rlu.3_5'Flank|RBKS_uc010ezi.1_5'UTR|RBKS_uc010ymg.2_Nonsense_Mutation_p.Q8*|RBKS_uc010ymh.2_Non-coding_Transcript	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	8					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					CACTGCCTCTGGGGTTCCCCAG	0.649000														13			7		0	0	0.004672	0	0
PTPN21	11099	broad.mit.edu	37	14	88945372	88945372	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:88945372G>A	uc001xwv.4	-	12	2734	c.2403C>T	c.(2401-2403)ctC>ctT	p.L801L	PTPN21_uc010twc.2_Silent_p.L597L	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	801						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGACGTGGTGAGGTCGGACT	0.647000														16			10		0	0	0.008291	0	0
MYH13	8735	broad.mit.edu	37	17	10206725	10206725	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:10206725C>T	uc002gmk.1	-	37	5647	c.5557G>A	c.(5557-5559)Gag>Aag	p.E1853K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1853					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K1852N(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TAAGTCATCTCCTTGACTTTG	0.547000														30			36		0	0	0.004289	0	0
ABL2	27	broad.mit.edu	37	1	179095764	179095764	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:179095764C>T	uc001gmj.4	-	3	722	c.435G>A	c.(433-435)tgG>tgA	p.W145*	ABL2_uc010pnf.2_Nonsense_Mutation_p.W145*|ABL2_uc010png.2_Nonsense_Mutation_p.W124*|ABL2_uc010pnh.2_Nonsense_Mutation_p.W124*|ABL2_uc009wxe.3_Nonsense_Mutation_p.W124*|ABL2_uc001gmg.4_Nonsense_Mutation_p.W130*|ABL2_uc001gmi.4_Nonsense_Mutation_p.W130*|ABL2_uc010pne.2_Nonsense_Mutation_p.W109*|ABL2_uc001gmk.3_Nonsense_Mutation_p.W109*|ABL2_uc009wxf.2_Nonsense_Mutation_p.W130*	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	145	SH3.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GAACTTCACTCCACTCACCAT	0.473000			T	ETV6	AML									16			26		0	0	0.005443	0	0
TRIM35	23087	broad.mit.edu	37	8	27146715	27146715	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:27146715G>A	uc003xfl.1	-	4	950	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	TRIM35_uc010lup.1_Missense_Mutation_p.P250L	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	290	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TTCCAGACGCGGTACTGCAGG	0.572000														7			11		0	0	0.013537	0	0
ENC1	8507	broad.mit.edu	37	5	73931417	73931417	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:73931417G>A	uc003kdc.4	-	1	2025	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ENC1_uc011css.2_Silent_p.F225F|ENC1_uc021yao.1_Silent_p.F298F	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	298					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTCCCAGAAGGAAGAGGGCAT	0.507000														20			9		0	0	0.004482	0	0
AMOT	154796	broad.mit.edu	37	X	112058649	112058649	+	Silent	SNP	G	A	A	rs149397566	byFrequency	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:112058649G>A	uc004epr.3	-	1	1347	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	AMOT_uc004eps.3_Silent_p.D34D|AMOT_uc004ept.1_Silent_p.D443D	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	443					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCCGGTTCTCGTCTGAGAGGA	0.522000														56			85		0	0	0.014410	0	0
UROC1	131669	broad.mit.edu	37	3	126226832	126226832	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:126226832C>T	uc010hsi.2	-	4	572	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	UROC1_uc003eiz.2_Missense_Mutation_p.R173Q	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	173					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GATGACGAGCCGTGGGGCACT	0.592000														29			21		0	0	0.012319	0	0
LRRN3	54674	broad.mit.edu	37	7	110763912	110763912	+	Missense_Mutation	SNP	G	A	A	rs145461505		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:110763912G>A	uc003vft.4	+	3	2130	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.E362K|LRRN3_uc003vfs.4_Missense_Mutation_p.E362K|LRRN3_uc022akc.1_Missense_Mutation_p.E362K	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	362						integral to membrane		p.E362K(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAACCTCAAGGAAATCAGCAT	0.463000														40			13		0	0	0.001855	0	0
JAM3	83700	broad.mit.edu	37	11	134009758	134009758	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:134009758G>A	uc001qhb.2	+	1	248	c.224G>A	c.(223-225)gGg>gAg	p.G75E	JAM3_uc009zcz.2_Missense_Mutation_p.G30E	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	30	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TGCCTGATAGGGGCTGTAAAT	0.453000											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			12		0	0	0.013537	0	0
PLD1	5337	broad.mit.edu	37	3	171427469	171427470	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:171427469_171427470TC>GT	uc003fhs.3	-	9	1288_1289	c.941_942GA>AC	c.(940-942)aga>aAC	p.R314N	PLD1_uc003fht.3_Missense_Mutation_p.R314N	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	314	PH.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCGAGCATGTCTATAGCTGTT	0.386000														53			24		0	0	0.004672	0	0
SLC12A7	10723	broad.mit.edu	37	5	1053505	1053505	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:1053505T>C	uc003jbu.3	-	22	3185	c.3119A>G	c.(3118-3120)aAc>aGc	p.N1040S		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	1040					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACCTGGCATGTTGAGCAGGAC	0.612000														30			6		0	0	0.001984	0	0
DNAH1	25981	broad.mit.edu	37	3	52356589	52356589	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:52356589G>A	uc011bef.2	+	1	392	c.131G>A	c.(130-132)gGa>gAa	p.G44E	DNAH1_uc003ddt.1_Missense_Mutation_p.G44E	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	44	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATTCTTCCAGGATCAGACTAT	0.617000														16			11		0	0	0.013537	0	0
TNXB	7148	broad.mit.edu	37	6	32036905	32036906	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:32036905_32036906CC>TT	uc003nzl.2	-	15	5797_5798	c.5595_5596GG>AA	c.(5593-5598)agggaa>agAAaa	p.E1866K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1948	Fibronectin type-III 11.				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						TCCGTTTCTTCCCTGCCGGCTG	0.629000														134			21		0	0	0.004672	0	0
YLPM1	56252	broad.mit.edu	37	14	75302090	75302090	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:75302090C>T	uc001xqj.4	+	19	6541	c.6417C>T	c.(6415-6417)gcC>gcT	p.A2139A	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1944					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTGAAAAAGCCCTCAATCGAA	0.413000														36			16		0	0	0.004990	0	0
ABCA4	24	broad.mit.edu	37	1	94502706	94502706	+	Missense_Mutation	SNP	C	T	T	rs61752425		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:94502706C>T	uc001dqh.3	-	24	3912	c.3808G>A	c.(3808-3810)Gaa>Aaa	p.E1270K		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1270					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E1270D(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTACCTCTTCCAGGGGAGTG	0.453000														50			57		0	0	0.014410	0	0
BCMO1	53630	broad.mit.edu	37	16	81319193	81319193	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:81319193G>A	uc002fgn.1	+	8	1474	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	BCMO1_uc010vnp.1_Missense_Mutation_p.R350Q	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	419					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AAGCAATACCGATATGTCTTT	0.478000														41			14		0	0	0.004007	0	0
CHIC1	53344	broad.mit.edu	37	X	72797281	72797281	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:72797281C>T	uc004ebk.4	+	1	472	c.335C>T	c.(334-336)tCc>tTc	p.S112F	CHIC1_uc010nlo.3_Non-coding_Transcript|CHIC1_uc004ebl.4_Missense_Mutation_p.S112F|CHIC1_uc011mql.2_Missense_Mutation_p.S112F	NM_001039840	NP_001034929	Q5VXU3	CHIC1_HUMAN	Homo sapiens cysteine-rich hydrophobic domain 1 (CHIC1), mRNA.	112						cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					GAATTTCCCTCCGTTCTAACA	0.343000														40			62		0	0	0.014410	0	0
OR10G2	26534	broad.mit.edu	37	14	22102909	22102909	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:22102909G>A	uc010tmc.2	-	0	90	c.90C>T	c.(88-90)ctC>ctT	p.L30L		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCAGGAAGAGGAGGCTTCTTA	0.502000														42			28		0	0	0.008361	0	0
CACNA1D	776	broad.mit.edu	37	3	53845310	53845310	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:53845310C>T	uc003dgv.4	+	47	6526	c.6363C>T	c.(6361-6363)ccC>ccT	p.P2121P	CACNA1D_uc003dgu.4_Silent_p.P2141P|CACNA1D_uc003dgy.4_Silent_p.P2097P|CACNA1D_uc003dgw.4_Silent_p.P1788P|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2121					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGTGGGCCCCCTCTCACACC	0.612000														31			13		0	0	0.001855	0	0
DIO2	1734	broad.mit.edu	37	14	80669401	80669401	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:80669401G>A	uc021rxa.1	-	2	614	c.561C>T	c.(559-561)tcC>tcT	p.S187S	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Silent_p.S151S|DIO2_uc010asy.3_Silent_p.S151S	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	151					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGCCACTGAGGAGAACTCTT	0.562000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			5		0	0	0.000602	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457959	45457959	+	RNA	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:45457959G>A	uc001rol.3	-	0		c.1236C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TTCTCTTTCAGCTTTTACTGT	0.438000														18			9		0	0	0.010729	0	0
ZNF208	7757	broad.mit.edu	37	19	22156113	22156113	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:22156113G>A	uc021urr.1	-	3	1872	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				TCTACAGTATGAATTTTCTTA	0.348000														17			11		0	0	0.010729	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145972568	145972568	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:145972568C>T	uc011dbv.2	-	9	1455	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	PPP2R2B_uc010jgm.3_Missense_Mutation_p.D329N|PPP2R2B_uc003loe.3_Missense_Mutation_p.D340N|PPP2R2B_uc003log.4_Missense_Mutation_p.D340N|PPP2R2B_uc003lof.4_Missense_Mutation_p.D340N|PPP2R2B_uc003loi.4_Missense_Mutation_p.D343N|PPP2R2B_uc003loh.4_Missense_Mutation_p.D340N|PPP2R2B_uc003lok.4_Missense_Mutation_p.D329N|PPP2R2B_uc003loj.4_Missense_Mutation_p.D320N|PPP2R2B_uc011dbu.2_Missense_Mutation_p.D346N	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	340					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V398G(2)		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)			TCAAATTTATCAAAAATGCAG	0.418000														90			64		0	0	0.014410	0	0
BZRAP1	9256	broad.mit.edu	37	17	56403732	56403732	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:56403732C>T	uc002ivx.4	-	2	1363	c.492G>A	c.(490-492)agG>agA	p.R164R	BZRAP1_uc010dcs.3_Silent_p.R164R|BZRAP1_uc010wnt.2_Silent_p.R164R|LOC100506779_uc021uan.1_Intron|LOC100506779_uc010dct.2_5'Flank|LOC100506779_uc010dcu.2_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	164						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGCGTTCTTCCTCTTCAGCC	0.607000														24			24		0	0	0.004656	0	0
ITGAL	3683	broad.mit.edu	37	16	30522415	30522415	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:30522415C>T	uc002dyi.4	+	23	2920	c.2744C>T	c.(2743-2745)aCc>aTc	p.T915I	ITGAL_uc002dyj.4_Missense_Mutation_p.T831I|ITGAL_uc010vev.2_Missense_Mutation_p.T149I	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	915					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.T915I(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCAGCCACTACCATCATCCCC	0.567000														35			31		0	0	0.003271	0	0
CLIP2	7461	broad.mit.edu	37	7	73791003	73791003	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:73791003C>T	uc003uam.3	+	9	2599	c.2272C>T	c.(2272-2274)Ctg>Ttg	p.L758L	CLIP2_uc003uan.3_Silent_p.L723L|CLIP2_uc003uao.3_Silent_p.L152L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	758						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCAGATCTCGCTGGCCGAGAA	0.627000														38			12		0	0	0.001855	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561454	11561454	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:11561454G>A	uc001ash.4	+	1	543	c.405G>A	c.(403-405)cgG>cgA	p.R135R	PTCHD2_uc001asi.1_Silent_p.R135R	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	135					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGGGGGCGGAACCGGCGCG	0.607000														33			18		0	0	0.006122	0	0
GNAS	2778	broad.mit.edu	37	20	57429123	57429123	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:57429123C>T	uc002xzw.3	+	0	1088	c.803C>T	c.(802-804)cCc>cTc	p.P268L	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGCCTCACTCCCGCCGCGAAC	0.692000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				8			4		0	0	0.001168	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115510	15115510	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:15115510C>T	uc003bzm.1	-	13	2748	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	ZFYVE20_uc010hek.1_Missense_Mutation_p.E712K	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	712	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTGGGTTCCTCAAAGGGGTTA	0.552000														40			21		0	0	0.010504	0	0
MPRIP	23164	broad.mit.edu	37	17	17049351	17049352	+	Missense_Mutation	DNP	CC	TT	TT	rs139934070	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:17049351_17049352CC>TT	uc002gqv.2	+	9	1240_1241	c.1151_1152CC>TT	c.(1150-1152)ccc>cTT	p.P384L	MPRIP_uc002gqu.2_Missense_Mutation_p.P384L|MPRIP_uc002gqw.2_Missense_Mutation_p.P139L	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	384						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTTTCTCAGCCCGACCTGCTGA	0.545000														13			6		0	0	0.004672	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493180	173493180	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:173493180G>A	uc001giz.2	-	20	2991	c.2568C>T	c.(2566-2568)ccC>ccT	p.P856P	SLC9C2_uc009wwe.2_Silent_p.P414P	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	856					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CAGGAGTTGGGGGTGGGATTG	0.358000														65			30		0	0	0.013726	0	0
X06774	0	broad.mit.edu	37	7	38370059	38370059	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:38370059C>T	uc010kxj.1	-	1	375	c.239G>A	c.(238-240)gGa>gAa	p.G80E	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		TCGACTGATTCCTGATTCCAA	0.458000														46			11		0	0	0.013537	0	0
TROAP	10024	broad.mit.edu	37	12	49724243	49724243	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:49724243C>G	uc009zlh.3	+	12	1782	c.1615C>G	c.(1615-1617)Cag>Gag	p.Q539E	TROAP_uc001rtx.4_Missense_Mutation_p.Q539E	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	539	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCCTCCCTCCAGGAACAGCT	0.632000														22			26		0	0	0.004656	0	0
XIRP2	129446	broad.mit.edu	37	2	168100212	168100212	+	Silent	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:168100212A>C	uc002udx.3	+	8	2399	c.2310A>C	c.(2308-2310)gcA>gcC	p.A770A	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.A595A|XIRP2_uc010fpq.3_Silent_p.A548A|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	595					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAGAACAGCACGGTGGATGT	0.383000														30			21		0	0	0.012319	0	0
GJB3	2707	broad.mit.edu	37	1	35251051	35251051	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:35251051T>C	uc001bxz.4	+	0	688	c.688T>C	c.(688-690)Tcg>Ccg	p.S230P	GJB3_uc001bxx.3_Missense_Mutation_p.S230P|GJB3_uc001bxy.3_Missense_Mutation_p.S230P	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	230					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TTGCAGCCCCTCGTCCTCCGC	0.632000														15			8		0	0	0.003080	0	0
MYH10	4628	broad.mit.edu	37	17	8393840	8393840	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:8393840G>A	uc002glm.3	-	34	4798	c.4702C>T	c.(4702-4704)Cta>Tta	p.L1568L	MYH10_uc002gll.3_Silent_p.L1537L|MYH10_uc010cnx.3_Silent_p.L1546L	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1537					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGCTGCTCTAGGGCCCGTTTG	0.532000														26			23		0	0	0.003330	0	0
INHBC	3626	broad.mit.edu	37	12	57843234	57843234	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:57843234C>T	uc001snv.1	+	1	615	c.488C>T	c.(487-489)aCc>aTc	p.T163I		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	163					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						ACCAACCTCACCTTGGCTACT	0.567000														45			39		0	0	0.007835	0	0
GDF10	2662	broad.mit.edu	37	10	48429087	48429087	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:48429087C>T	uc001jfb.3	-	1	1227	c.799G>A	c.(799-801)Gac>Aac	p.D267N	GDF10_uc009xnp.3_Missense_Mutation_p.D266N|GDF10_uc009xnq.2_Missense_Mutation_p.D267N	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	267					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGAAGGGGTCGTATCTCTGC	0.701000														2			6		0	0	0.001168	0	0
POM121L12	285877	broad.mit.edu	37	7	53104126	53104126	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:53104126C>T	uc003tpz.3	+	0	778	c.762C>T	c.(760-762)tcC>tcT	p.S254S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	254								p.S254S(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTTGGCCTTCCGTGCTGGTCC	0.637000														19			26		0	0	0.005443	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85165263	85165263	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:85165263C>T	uc002bkr.3	+	2	2063	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F	ZSCAN2_uc010bmz.1_Missense_Mutation_p.L611F|ZSCAN2_uc010bna.3_Missense_Mutation_p.L463F|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	613					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAAAGAGAAACTTTATTGAAG	0.493000														24			27		0	0	0.004656	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450539	107450539	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:107450539C>T	uc002tdq.3	-	2	1126	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	ST6GAL2_uc002tdr.3_Missense_Mutation_p.G336E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G336E	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	336					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGTTTTATTCCCAACATCTTT	0.388000														87			52		0	0	0.014410	0	0
ZNF638	27332	broad.mit.edu	37	2	71591243	71591243	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:71591243C>T	uc002shx.3	+	4	1901	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	ZNF638_uc010fec.2_Silent_p.C632C|ZNF638_uc010yqw.1_Silent_p.C105C|ZNF638_uc002shw.3_Silent_p.C526C|ZNF638_uc002shz.3_Silent_p.C526C|ZNF638_uc002shy.3_Silent_p.C526C|ZNF638_uc002sia.3_Silent_p.C526C|ZNF638_uc002sib.1_Silent_p.C526C	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	526	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAAGAATTTGCCATCGTTTCA	0.428000														33			22		0	0	0.012319	0	0
KIAA1751	85452	broad.mit.edu	37	1	1900131	1900131	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:1900131C>T	uc001aim.1	-	10	1344	c.1188G>A	c.(1186-1188)tgG>tgA	p.W396*	KIAA1751_uc009vkz.1_Nonsense_Mutation_p.W396*	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	396										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AAATGTAGTTCCAGGTCTTGT	0.537000														93			77		0	0	0.014410	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940196	70940196	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:70940196C>T	uc001jpe.1	+	0	204	c.149C>T	c.(148-150)tCc>tTc	p.S50F	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	50					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCGCCTCCTCCTCTGCCTCC	0.657000														9			34		0	0	0.004878	0	0
LILRB1	10859	broad.mit.edu	37	19	55144201	55144201	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:55144201C>T	uc002qgj.3	+	6	1288	c.948C>T	c.(946-948)atC>atT	p.I316I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.I316I|LILRB1_uc002qgk.3_Silent_p.I316I|LILRB1_uc002qgm.3_Silent_p.I316I|LILRB1_uc010erq.3_Silent_p.I316I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	316	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCTGGACATCCTGATCGCAG	0.682000										HNSCC(37;0.09)				28			8		0	0	0.008291	0	0
RP1	6101	broad.mit.edu	37	8	55540771	55540771	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:55540771G>A	uc003xsd.1	+	3	4477	c.4329G>A	c.(4327-4329)cgG>cgA	p.R1443R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1443					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.R1443Q(1)|p.R1443W(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGAACCACGGACTTCTGAAG	0.343000														22			21		0	0	0.012319	0	0
CCNJL	79616	broad.mit.edu	37	5	159680613	159680613	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:159680613G>A	uc003lyb.1	-	6	1332	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	CCNJL_uc011dee.1_Silent_p.S312S|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	360						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCTGCAAGGAGTCCCGAT	0.657000														16			16		0	0	0.004007	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140865237	140865237	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140865237C>T	uc003lky.2	+	0	497	c.497C>T	c.(496-498)tCg>tTg	p.S166L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.S166L	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	166	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCAATTCGATTAGCAGC	0.567000														20			20		0	0	0.012319	0	0
SOS1	6654	broad.mit.edu	37	2	39240630	39240630	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:39240630C>A	uc002rrk.4	-	12	2179	c.2138G>T	c.(2137-2139)cGa>cTa	p.R713L	SOS1_uc002rrj.4_Missense_Mutation_p.R327L	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	713	N-terminal Ras-GEF.				Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTCTTCCATTCGTTGCAAAAG	0.333000									Noonan syndrome					93			36		7.61001e-30	1.24418e-29	0.005524	1	0
PROKR2	128674	broad.mit.edu	37	20	5283294	5283294	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:5283294G>A	uc010zqw.2	-	1	555	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	PROKR2_uc010zqx.2_Missense_Mutation_p.L183F|PROKR2_uc010zqy.2_Missense_Mutation_p.L183F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	183						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATGGCAATGAGAATGGACACC	0.512000										HNSCC(71;0.22)				87			39		0	0	0.011902	0	0
C6orf162	57150	broad.mit.edu	37	6	88046794	88046794	+	Silent	SNP	C	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:88046794C>A	uc003plp.1	+	2	134	c.45C>A	c.(43-45)ccC>ccA	p.P15P	C6orf162_uc021zck.1_Non-coding_Transcript|C6orf162_uc003plq.1_Silent_p.P15P	NM_001042493	NP_065158	Q96KF7	CF162_HUMAN	Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA.	15						integral to membrane				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		AGGAACCACCCAAAGAGAAAG	0.383000														24			28		3.1745e-13	5.15287e-13	0.008361	1	0
SIM1	6492	broad.mit.edu	37	6	100841464	100841464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:100841464C>T	uc003pqj.4	-	9	1936	c.1469G>A	c.(1468-1470)tGg>tAg	p.W490*	SIM1_uc021zdg.1_Nonsense_Mutation_p.W490*|SIM1_uc010kcu.3_Nonsense_Mutation_p.W490*	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	490	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.W490L(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGAGAGCCCCACCAGGGCTC	0.607000														17			28		0	0	0.007291	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996104	43996104	+	Silent	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:43996104T>C	uc003bdy.2	-	22	3035	c.2721A>G	c.(2719-2721)gaA>gaG	p.E907E	EFCAB6_uc003bdz.2_Silent_p.E755E|EFCAB6_uc010gzi.2_Silent_p.E755E|EFCAB6_uc010gzj.1_Silent_p.E133E	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	907	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTGTAAAAATTCCTGGTAAG	0.428000														158			68		0	0	0.014410	0	0
IL12RB1	3594	broad.mit.edu	37	19	18177379	18177380	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:18177379_18177380GG>AA	uc002nhx.1	-	12	1626_1627	c.1575_1576CC>TT	c.(1573-1578)tgccga>tgTTga	p.R526*	IL12RB1_uc002nhw.1_Nonsense_Mutation_p.R486*|IL12RB1_uc010xqb.1_Nonsense_Mutation_p.R486*	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	486	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TCTTCATCTCGGCAGCGGACAA	0.564000														32			18		0	0	0.004672	0	0
GJA5	2702	broad.mit.edu	37	1	147230938	147230938	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:147230938C>T	uc021ovl.1	-	0	409	c.409G>A	c.(409-411)Gag>Aag	p.E137K	GJA5_uc001eps.1_Missense_Mutation_p.E137K|GJA5_uc001ept.1_Missense_Mutation_p.E137K	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	137					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTCCCTTCCTCCCAGCAGGAC	0.607000														44			16		0	0	0.003163	0	0
NLRP7	199713	broad.mit.edu	37	19	55452870	55452870	+	Silent	SNP	C	T	T	rs111764628		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:55452870C>T	uc002qih.4	-	1	286	c.210G>A	c.(208-210)gcG>gcA	p.A70A	NLRP7_uc010esk.3_Silent_p.A70A|NLRP7_uc002qig.4_Silent_p.A70A|NLRP7_uc002qii.4_Silent_p.A70A|NLRP7_uc010esl.3_Silent_p.A98A	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	70	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTTCACAGTCGCATTCCTTA	0.463000														63			28		0	0	0.007291	0	0
PCK1	5105	broad.mit.edu	37	20	56138761	56138761	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:56138761C>T	uc002xyn.4	+	5	1102	c.939C>T	c.(937-939)gcC>gcT	p.A313A	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	313					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATGACATTGCCTGGATGAAGT	0.557000														48			25		0	0	0.004656	0	0
ANKRD36	375248	broad.mit.edu	37	2	97881266	97881266	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:97881266C>T	uc010yva.2	+	61	3949	c.3705C>T	c.(3703-3705)ttC>ttT	p.F1235F	ANKRD36_uc002sxr.1_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	1235										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATGTAATGTTCGATCAAATAG	0.358000														15			6		0	0	0.004482	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187967	102187967	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:102187967C>T	uc003dvt.1	+	7	1069	c.969C>T	c.(967-969)ccC>ccT	p.P323P	ZPLD1_uc003dvs.1_Silent_p.P307P|ZPLD1_uc011bhg.1_Silent_p.P307P	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	307						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGACTGCCCCTTCCTTATGC	0.383000														43			15		0	0	0.006122	0	0
MYH8	4626	broad.mit.edu	37	17	10304037	10304037	+	Silent	SNP	C	T	T	rs78443907	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:10304037C>T	uc002gmm.2	-	26	3500	c.3405G>A	c.(3403-3405)gcG>gcA	p.A1135A	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1135					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTGCTTCTCCGCTTTGGCTC	0.557000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					18			33		0	0	0.003271	0	0
ALMS1	7840	broad.mit.edu	37	2	73784358	73784358	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:73784358C>T	uc002sje.1	+	13	10198	c.10087C>T	c.(10087-10089)Caa>Taa	p.Q3363*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q3321*|ALMS1_uc002sjg.3_Nonsense_Mutation_p.Q2751*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q2751*|ALMS1_uc010fev.1_Nonsense_Mutation_p.Q123*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3363					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						TGCCTCAGTTCAAGTGCTAAT	0.413000														37			26		0	0	0.004656	0	0
CSMD3	114788	broad.mit.edu	37	8	113702234	113702234	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:113702234C>T	uc003ynu.3	-	13	2177	c.2018G>A	c.(2017-2019)gGa>gAa	p.G673E	CSMD3_uc003yns.3_5'UTR|CSMD3_uc003ynt.3_Missense_Mutation_p.G633E|CSMD3_uc011lhx.2_Missense_Mutation_p.G569E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	673	Sushi 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						TTCTCTAATTCCATATAAGGG	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				145			88		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167118	140167118	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140167118C>T	uc003lhb.2	+	0	1243	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	PCDHAC2_uc003lha.2_Missense_Mutation_p.R415C|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R415C	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	429	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)			CGCCCTGGATCGCGAGAGCCT	0.637000														68			28		0	0	0.010818	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267526	79267526	+	Silent	SNP	A	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:79267526A>T	uc010mpk.3	-	10	8554	c.8430T>A	c.(8428-8430)ctT>ctA	p.L2810L	PRUNE2_uc011lsk.2_Silent_p.L59L|PRUNE2_uc011lsl.2_Silent_p.L74L|PRUNE2_uc011lsm.2_Silent_p.L74L|PRUNE2_uc004akj.4_Silent_p.L263L|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Silent_p.L263L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2810					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTCCAGAGAAAGATTGATAT	0.413000														107			57		0	0	0.014410	0	0
SZT2	23334	broad.mit.edu	37	1	43891205	43891205	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:43891205C>T	uc001cjk.2	+	18	2790	c.180C>T	c.(178-180)ctC>ctT	p.L60L	SZT2_uc009vws.1_Silent_p.L902L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	902						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCAGAGCTCAATCTGGTCA	0.557000														92			27		0	0	0.006320	0	0
GABRE	2564	broad.mit.edu	37	X	151123421	151123421	+	Missense_Mutation	SNP	C	T	T	rs150837963		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:151123421C>T	uc004ffi.3	-	8	1327	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	425					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGCTGGGCTGAGCAAGAC	0.602000														4			7		0	0	0.003080	0	0
OR2H1	26716	broad.mit.edu	37	6	29430399	29430399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:29430399C>T	uc003nmi.3	+	2	1296	c.853C>T	c.(853-855)Cct>Tct	p.P285S	OR2H1_uc003nmj.1_Missense_Mutation_p.P285S|OR2H1_uc010jri.2_Missense_Mutation_p.P207S|OR2H1_uc021ytr.1_Missense_Mutation_p.P285S	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TTCACTTAACCCTCTCGTATA	0.502000														22			31		0	0	0.008361	0	0
SULT1E1	6783	broad.mit.edu	37	4	70710024	70710024	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:70710024G>A	uc003heo.3	-	6	740	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	209					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCCTTTCCAGGAAATGTATCA	0.353000														24			40		0	0	0.011902	0	0
CDHR3	222256	broad.mit.edu	37	7	105645017	105645017	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:105645017C>T	uc003vdl.4	+	7	1044	c.936C>T	c.(934-936)tcC>tcT	p.S312S	CDHR3_uc003vdk.3_5'UTR|CDHR3_uc011kls.1_Non-coding_Transcript|CDHR3_uc003vdm.4_Silent_p.S299S|CDHR3_uc011klt.2_Silent_p.S224S|CDHR3_uc003vdn.3_Silent_p.S29S	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	312	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCACCATTTCCCTGGAAGTTC	0.483000														15			14		0	0	0.003163	0	0
NUP210	23225	broad.mit.edu	37	3	13438860	13438860	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:13438860C>T	uc003bxv.1	-	2	516	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	145					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCTCACCTTCGGAGTCCAGG	0.592000														15			12		0	0	0.003163	0	0
SPRY2	10253	broad.mit.edu	37	13	80911390	80911390	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:80911390G>A	uc001vli.3	-	1	1429	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	SPRY2_uc001vlj.3_Missense_Mutation_p.R151W|SPRY2_uc021rkz.1_Missense_Mutation_p.R151W	NM_005842	NP_005833	O43597	SPY2_HUMAN	Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA.	151					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GGTTGCACCCGGATTATGCCA	0.562000														31			4		0	0	0.000602	0	0
TTC26	79989	broad.mit.edu	37	7	138853101	138853101	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:138853101C>T	uc003vus.2	+	10	1077	c.963C>T	c.(961-963)ctC>ctT	p.L321L	TTC26_uc003vur.4_Silent_p.L321L|TTC26_uc011kqn.1_Silent_p.L321L|TTC26_uc011kqo.1_Silent_p.L290L|TTC26_uc011kqp.1_Silent_p.L216L|TTC26_uc003vut.2_Silent_p.L181L|TTC26_uc011kqq.1_Silent_p.L190L	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	321							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGTATATTCTCAAAGGAGTGG	0.363000														31			8		0	0	0.003080	0	0
HRNR	388697	broad.mit.edu	37	1	152185756	152185756	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152185756G>A	uc001ezt.1	-	2	8425	c.8349C>T	c.(8347-8349)tcC>tcT	p.S2783S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2783					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCGTAGCTGGAAGACTGCC	0.567000														28			8		0	0	0.001855	0	0
OR13H1	347468	broad.mit.edu	37	X	130678657	130678657	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:130678657T>G	uc011muw.2	+	0	610	c.610T>G	c.(610-612)Ttc>Gtc	p.F204V	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CACCAGTATCTTCACCCTGCT	0.453000														100			36		0	0	0.006230	0	0
ROS1	6098	broad.mit.edu	37	6	117631415	117631415	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:117631415G>A	uc003pxp.1	-	39	6462	c.6263C>T	c.(6262-6264)tCc>tTc	p.S2088F	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2088	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTCTTTCACGGAAACAAGGCA	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									48			37		0	0	0.006999	0	0
SNRNP40	9410	broad.mit.edu	37	1	31744311	31744311	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:31744311G>A	uc010oge.2	-	5	736	c.690C>T	c.(688-690)acC>acT	p.T230T	SNRNP40_uc009vtt.3_5'Flank|SNRNP40_uc001bso.3_Silent_p.T230T	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA.	230						U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						GGCCTCTCATGGTGTAGGTTA	0.438000														45			59		0	0	0.014410	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786624	19786624	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:19786624C>T	uc003zoa.2	-	0	394	c.241G>A	c.(241-243)Ggt>Agt	p.G81S	SLC24A2_uc003zob.2_Missense_Mutation_p.G81S	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	81					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGATGGTAACCCTGTGCTACC	0.448000														42			26		0	0	0.003954	0	0
ZNF408	79797	broad.mit.edu	37	11	46726247	46726247	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:46726247C>T	uc001nde.2	+	4	1278	c.997C>T	c.(997-999)Cct>Tct	p.P333S	ZNF408_uc010rgw.2_Missense_Mutation_p.P325S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	333					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						GTCTGGCTTCCCTACACTCTC	0.632000														16			22		0	0	0.012319	0	0
MYH2	4620	broad.mit.edu	37	17	10429146	10429146	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:10429146G>A	uc010coi.3	-	30	4363	c.4235C>T	c.(4234-4236)gCt>gTt	p.A1412V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1412V|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1412					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						GGCGTTCACAGCTTCTACATG	0.483000														31			25		0	0	0.005443	0	0
ALB	213	broad.mit.edu	37	4	74277741	74277741	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:74277741C>T	uc003hgs.4	+	6	815	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.P56S|ALB_uc011cbf.2_Missense_Mutation_p.P138S	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	248	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCAGAGATTTCCCAAAGCTGA	0.413000														25			44		0	0	0.014410	0	0
PTPRT	11122	broad.mit.edu	37	20	40748607	40748607	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:40748607T>C	uc002xkg.3	-	19	3036	c.2852A>G	c.(2851-2853)tAc>tGc	p.Y951C	PTPRT_uc010ggj.3_Missense_Mutation_p.Y970C|PTPRT_uc010ggi.3_Missense_Mutation_p.Y154C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	951	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R950L(1)		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)				AGGTCGATGGTATCCCTGGAT	0.488000														81			5		0	0	0.001168	0	0
DCLK2	166614	broad.mit.edu	37	4	151114386	151114386	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:151114386C>T	uc003ilo.4	+	2	1607	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.H285Y|DCLK2_uc003iln.4_Missense_Mutation_p.H285Y	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	285					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTCCTGGATCATAGTGGTAA	0.393000														24			51		0	0	0.014410	0	0
COQ4	51117	broad.mit.edu	37	9	131088065	131088065	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:131088065C>T	uc004bur.4	+	3	654	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	COQ4_uc011max.1_Missense_Mutation_p.P103S|COQ4_uc010mxy.3_Missense_Mutation_p.P79S	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	103					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CAGGGAGCGTCCCCGGATTTC	0.597000														24			7		0	0	0.004482	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256014	140256014	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140256014G>A	uc003lic.2	+	0	1084	c.957G>A	c.(955-957)caG>caA	p.Q319Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.Q319Q	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	334	Cadherin 3.				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)			ATGAAATTCAGGTTAACGCCA	0.398000														37			39		0	0	0.006230	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033518	95033518	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:95033518G>A	uc010avd.3	+	2	1246	c.972G>A	c.(970-972)agG>agA	p.R324R	SERPINA4_uc001ydk.3_Silent_p.R287R|SERPINA4_uc001ydl.3_Silent_p.R287R	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	287					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.S324A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCAAAATGAGGGAGATTGAAG	0.468000														15			13		0	0	0.013537	0	0
KCNA4	3739	broad.mit.edu	37	11	30032279	30032279	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:30032279C>T	uc021qfi.1	-	0	1947	c.1947G>A	c.(1945-1947)gtG>gtA	p.V649V	KCNA4_uc001msk.3_Silent_p.V649V	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	649						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CATCAGTCTCCACAGCCTTTG	0.428000														54			11		0	0	0.010729	0	0
GPR158	57512	broad.mit.edu	37	10	25701267	25701267	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:25701267C>T	uc001isj.3	+	3	1260	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	400						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						AGGGCTGCCCCTTCTGTGCTG	0.498000														31			82		0	0	0.014410	0	0
DEFB112	245915	broad.mit.edu	37	6	50016297	50016297	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:50016297G>A	uc011dws.2	-	0	68	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	23					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					AAATATTGTGGAAGATGTATT	0.333000														43			24		0	0	0.006320	0	0
GPR116	221395	broad.mit.edu	37	6	46828470	46828470	+	Silent	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:46828470T>C	uc003oyo.3	-	15	2650	c.2361A>G	c.(2359-2361)gtA>gtG	p.V787V	GPR116_uc011dwj.1_Silent_p.V342V|GPR116_uc011dwk.1_Silent_p.V216V|GPR116_uc003oyp.3_Silent_p.V645V|GPR116_uc003oyq.3_Silent_p.V787V|GPR116_uc010jzi.1_Silent_p.V459V	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	787					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q786*(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCTGAATTTACTTGGGTTG	0.418000														35			10		0	0	0.008291	0	0
AGRP	181	broad.mit.edu	37	16	67516960	67516960	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:67516960C>T	uc002etg.1	-	2	484	c.184G>A	c.(184-186)Gat>Aat	p.D62N	ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank	NM_001138	NP_001129	O00253	AGRP_HUMAN	Homo sapiens agouti related protein homolog (mouse) (AGRP), mRNA.	62					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	Golgi lumen|extracellular space	neuropeptide hormone activity			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		TGCAACAGATCCTCTTCTGCC	0.607000														33			24		0	0	0.006320	0	0
FOLH1	2346	broad.mit.edu	37	11	49196493	49196493	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:49196493C>T	uc001ngy.3	-	8	1317	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	FOLH1_uc009yly.3_Silent_p.V337V|FOLH1_uc009ylz.3_Silent_p.V337V|FOLH1_uc001ngz.3_Silent_p.V352V|FOLH1_uc009yma.3_Silent_p.V44V	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	352	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAATTCTTGTCACTTCATTGG	0.338000														24			5		0	0	0.000602	0	0
COL15A1	1306	broad.mit.edu	37	9	101777808	101777808	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:101777808C>T	uc004azb.1	+	9	1669	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	488	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCCTGGCTCCCCTCACAGCC	0.562000														12			7		0	0	0.004482	0	0
ZAN	7455	broad.mit.edu	37	7	100348354	100348354	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100348354C>T	uc003uwj.3	+	11	1521	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	ZAN_uc003uwk.3_Silent_p.F452F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	452	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCGTGGAGTTCGCATACCACA	0.597000														12			5		0	0	0.001168	0	0
FCRL4	83417	broad.mit.edu	37	1	157556119	157556119	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:157556119C>T	uc001fqw.3	-	5	1110	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	325	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CATGTCCTCTCGGTGCCAGGA	0.607000														37			19		0	0	0.007413	0	0
PIK3CD	5293	broad.mit.edu	37	1	9787030	9787030	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:9787030G>A	uc001aqe.4	+	22	3341	c.3133G>A	c.(3133-3135)Gaa>Aaa	p.E1045K	PIK3CD_uc001aqb.4_Missense_Mutation_p.E1021K|PIK3CD_uc010oaf.2_Missense_Mutation_p.E1020K|PIK3CD_uc021ogb.1_Missense_Mutation_p.E805K	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	1021					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GAAGTTTAACGAAGCCCTCCG	0.567000														19			20		0	0	0.010504	0	0
MIXL1	83881	broad.mit.edu	37	1	226413317	226413317	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:226413317C>T	uc010pvm.2	+	1	503	c.503C>T	c.(502-504)aCg>aTg	p.T168M		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Homo sapiens Mix paired-like homeobox (MIXL1), mRNA.	168					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGAACTGAAACGAAATGTCTG	0.557000														39			14		0	0	0.002450	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686389	108686389	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:108686389G>A	uc009zuw.3	-	2	542	c.351C>T	c.(349-351)ttC>ttT	p.F117F	CMKLR1_uc001tmw.3_Silent_p.F117F|CMKLR1_uc001tmv.3_Silent_p.F115F|CMKLR1_uc009zuv.3_Silent_p.F117F|CMKLR1_uc021rdj.1_Silent_p.F115F	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	117					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.L117L(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGATGAGAAGGAAGTTGCTGA	0.532000														34			6		0	0	0.001168	0	0
CHST10	9486	broad.mit.edu	37	2	101010059	101010059	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:101010059A>G	uc002tam.3	-	6	1117	c.719T>C	c.(718-720)tTc>tCc	p.F240S		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	240					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTAGCGCACGAAATCTTCAAA	0.542000														91			49		0	0	0.014410	0	0
NID1	4811	broad.mit.edu	37	1	236154255	236154255	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:236154255C>T	uc001hxo.3	-	13	2961	c.2859G>A	c.(2857-2859)aaG>aaA	p.K953K	NID1_uc009xgd.3_Silent_p.K820K|NID1_uc009xgc.3_Silent_p.K39K	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	953					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGCGCTCAATCTTCCCAGTCT	0.572000														17			7		0	0	0.003080	0	0
THSD4	79875	broad.mit.edu	37	15	72037448	72037448	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:72037448C>T	uc002atb.1	+	10	1989	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	THSD4_uc002ate.2_Missense_Mutation_p.S277L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	637						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTTGCAGGATCGCAGTACCCT	0.547000														116			90		0	0	0.014410	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881382	94881382	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:94881382G>T	uc003unp.3	+	10	2821	c.2539G>T	c.(2539-2541)Ggg>Tgg	p.G847W	PPP1R9A_uc010lfj.3_Missense_Mutation_p.G869W|PPP1R9A_uc011kif.2_Missense_Mutation_p.G847W|PPP1R9A_uc003unq.3_Missense_Mutation_p.G847W|PPP1R9A_uc011kig.2_Missense_Mutation_p.G847W	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	847	Interacts with TGN38 (By similarity).					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)			AGTCTCTAAAGGGGATACCAT	0.408000										HNSCC(28;0.073)				24			23		6.21321e-17	1.01143e-16	0.002780	1	0
NUP160	23279	broad.mit.edu	37	11	47827791	47827791	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:47827791G>A	uc001ngm.3	-	19	2605	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.F840F	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	840					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTGGCTGAGAGAAGAGGTGAG	0.353000														44			40		0	0	0.005524	0	0
KRT5	3852	broad.mit.edu	37	12	52913965	52913965	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:52913965C>G	uc001san.3	-	0	279	c.116G>C	c.(115-117)gGg>gCg	p.G39A	KRT5_uc009zmh.3_Missense_Mutation_p.G39A	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	39	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCGCCACCCCCGGACCGGGA	0.677000														25			3		0	0	0.004672	0	0
ZBED1	9189	broad.mit.edu	37	X	2407161	2407161	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:2407161G>A	uc022brx.1	-	0	1600	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.R534W|ZBED1_uc004cqg.2_Missense_Mutation_p.R534W|ZBED1_uc022brw.1_Missense_Mutation_p.R534W	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	534						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGGATGTCCGCATGAGCTTC	0.652000														6			13		0	0	0.004007	0	0
RGS7BP	401190	broad.mit.edu	37	5	63894231	63894231	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:63894231G>A	uc003jtj.3	+	4	651	c.651G>A	c.(649-651)agG>agA	p.R217R	RGS7BP_uc011cqu.2_Silent_p.R84R	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	217					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		p.R217M(1)		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)		GCAAACTCAGGGAAACTATGC	0.333000														96			67		0	0	0.014410	0	0
KAT2B	8850	broad.mit.edu	37	3	20153274	20153274	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:20153274C>T	uc003cbq.3	+	5	1484	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	346					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCACTCATTTCCCAAAGTAAG	0.423000														21			6		0	0	0.003080	0	0
TRAT1	50852	broad.mit.edu	37	3	108572538	108572538	+	Silent	SNP	G	A	A	rs143422005		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:108572538G>A	uc003dxi.1	+	5	519	c.375G>A	c.(373-375)agG>agA	p.R125R	TRAT1_uc010hpx.1_Silent_p.R88R	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	125					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.R125R(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GAAAGCCCAGGAAACAGAATA	0.433000														29			23		0	0	0.014323	0	0
NLRP14	338323	broad.mit.edu	37	11	7064042	7064042	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:7064042A>T	uc001mfb.1	+	3	1108	c.785A>T	c.(784-786)gAt>gTt	p.D262V		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	262	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GACAGTTTCGATGAACTGAAC	0.448000														50			7		0	0	0.001984	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870703	51870703	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:51870703G>A	uc002xwo.3	+	1	1593	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	TSHZ2_uc021wex.1_Missense_Mutation_p.E233K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	236					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCACATGAATGAAACGGGCCA	0.532000														23			16		0	0	0.004007	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833006	101833006	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:101833006A>G	uc001pgm.3	+	5	1510	c.1240A>G	c.(1240-1242)Aca>Gca	p.T414A	KIAA1377_uc001pgn.3_Missense_Mutation_p.T370A|KIAA1377_uc010run.2_Missense_Mutation_p.T215A|KIAA1377_uc009yxa.1_Missense_Mutation_p.T215A	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	414							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAGAGCCCAACATTTAAATT	0.373000														24			18		0	0	0.007413	0	0
HCN4	10021	broad.mit.edu	37	15	73622119	73622119	+	Missense_Mutation	SNP	C	T	T	rs146714274		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:73622119C>T	uc002avp.3	-	3	2379	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	462					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTACTGCTTCCCCCAGGAGTT	0.622000														12			7		0	0	0.003080	0	0
HECTD1	25831	broad.mit.edu	37	14	31598181	31598181	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:31598181G>A	uc001wrc.1	-	24	4885	c.4396C>T	c.(4396-4398)Cct>Tct	p.P1466S	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.P934S	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1466	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GAACTATCAGGGCCTAACTTC	0.443000														32			14		0	0	0.004007	0	0
OR4K2	390431	broad.mit.edu	37	14	20345228	20345228	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20345228G>A	uc001vwh.1	+	0	802	c.802G>A	c.(802-804)Gac>Aac	p.D268N		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T267R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTCTCACAGACAAGATTCT	0.398000														70			15		0	0	0.003163	0	0
KIF6	221458	broad.mit.edu	37	6	39693057	39693057	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:39693057C>T	uc003oot.2	-	0	125	c.30G>A	c.(28-30)gcG>gcA	p.A10A	KIF6_uc011dua.1_Silent_p.A10A|KIF6_uc010jxb.1_Silent_p.A10A	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	10	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCTTCACCCTCGCGAATATCT	0.667000														60			49		0	0	0.014410	0	0
MRC2	9902	broad.mit.edu	37	17	60742014	60742014	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:60742014A>C	uc002jad.3	+	1	626	c.224A>C	c.(223-225)cAg>cCg	p.Q75P	Y_RNA_uc021ubi.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	75	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTCCCTGCCCAGCGCTGGAAG	0.652000														34			5		0	0	0.000602	0	0
ZNF831	128611	broad.mit.edu	37	20	57829713	57829713	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:57829713G>A	uc002yan.3	+	4	4949	c.4949G>A	c.(4948-4950)aGt>aAt	p.S1650N		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1650						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)					AAGAAGAGGAGTCTGGAAGGA	0.443000														40			18		0	0	0.007413	0	0
GFRAL	389400	broad.mit.edu	37	6	55216236	55216236	+	Silent	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:55216236T>C	uc003pcm.1	+	4	642	c.556T>C	c.(556-558)Ttg>Ctg	p.L186L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	186						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCCCAGATGTTGGCTTTTTG	0.438000														49			38		0	0	0.006999	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164148	72164148	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:72164148C>T	uc002fcc.4	-	11	1933	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	PMFBP1_uc002fcd.3_Missense_Mutation_p.M582I|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.M437I|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	587										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CATTCATTTTCATATCCTGCT	0.463000														65			21		0	0	0.002780	0	0
KRT26	353288	broad.mit.edu	37	17	38923894	38923894	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:38923894G>A	uc002hvf.3	-	6	1245	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	400	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GTAACATGTGGATTTGCTTTT	0.318000														37			25		0	0	0.008361	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058027	152058027	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152058027C>T	uc001ezo.1	-	2	2196	c.2131G>A	c.(2131-2133)Gga>Aga	p.G711R		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	711							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTTGCTCTTCCTTTCTCTTCT	0.443000														70			66		0	0	0.014410	0	0
CPN2	1370	broad.mit.edu	37	3	194062986	194062986	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:194062986G>A	uc003fts.3	-	1	536	c.446C>T	c.(445-447)tCc>tTc	p.S149F	CPN2_uc021xix.1_Missense_Mutation_p.S149F	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	149					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAGGTGGAGGGACTCCAGGGC	0.622000														27			18		0	0	0.007413	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6427490	6427490	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:6427490G>A	uc001qnr.3	+	10	1327	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	PLEKHG6_uc001qns.3_Silent_p.L393L|PLEKHG6_uc010sew.2_Silent_p.L393L|PLEKHG6_uc010sex.2_Silent_p.L361L	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	393					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TCTCCACCCTGGACCTGACGT	0.652000														15			11		0	0	0.013537	0	0
PFKFB1	5207	broad.mit.edu	37	X	54964045	54964045	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:54964045A>G	uc004dty.1	-	10	1282	c.1211T>C	c.(1210-1212)tTc>tCc	p.F404S	PFKFB1_uc010nkd.1_Missense_Mutation_p.F212S|PFKFB1_uc011mol.1_Missense_Mutation_p.F339S	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	404	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTTATCCAGGAAATAGGCCAG	0.463000														8			10		0	0	0.002450	0	0
ZNF607	84775	broad.mit.edu	37	19	38189123	38189123	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:38189123T>C	uc002ohc.2	-	4	2505	c.1909A>G	c.(1909-1911)Agc>Ggc	p.S637G	ZNF607_uc002ohb.2_Missense_Mutation_p.S636G	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GCATGAACGCTTTCATGTCTA	0.368000														54			10		0	0	0.008291	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285594	248285594	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248285594G>A	uc001idy.1	+	0	157	c.157G>A	c.(157-159)Gac>Aac	p.D53N						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TATGTCTTATGACTGCTACAT	0.453000														113			63		0	0	0.014410	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077486	79077486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:79077486C>T	uc002jzg.2	+	7	935	c.827C>T	c.(826-828)cCc>cTc	p.P276L	BAIAP2_uc002jyz.4_Missense_Mutation_p.P276L|BAIAP2_uc002jza.2_Missense_Mutation_p.P276L|BAIAP2_uc002jzc.2_Missense_Mutation_p.P276L|BAIAP2_uc002jzb.2_Missense_Mutation_p.P33L|BAIAP2_uc010wuh.1_Missense_Mutation_p.P198L|BAIAP2_uc002jzd.2_Missense_Mutation_p.P276L|BAIAP2_uc002jzf.2_Missense_Mutation_p.P276L|BAIAP2_uc002jze.2_Missense_Mutation_p.P309L|BAIAP2_uc002jzh.2_Missense_Mutation_p.P277L|BAIAP2_uc010wui.2_Missense_Mutation_p.P139L	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	276					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGGGCCAAGCCCCTGCCGGTG	0.682000														10			11		0	0	0.002450	0	0
NEIL2	252969	broad.mit.edu	37	8	11640909	11640909	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:11640909G>A	uc003wug.2	+	4	1363	c.688_splice	c.e4+1	p.G230_splice	NEIL2_uc003wue.2_Splice_Site_p.G230_splice|NEIL2_uc003wuf.2_Splice_Site_p.G169_splice|NEIL2_uc011kxd.1_Splice_Site_p.G114_splice	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	230					base-excision repair|nucleotide-excision repair	nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCAGGGCTAGGTATGACTCAT	0.537000								Base excision repair (BER), DNA glycosylases						29			18		0	0	0.008871	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764752	138764752	+	Missense_Mutation	SNP	G	A	A	rs150932310		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:138764752G>A	uc003vun.3	-	3	1323	c.935C>T	c.(934-936)tCg>tTg	p.S312L	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Missense_Mutation_p.S312L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	312					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						AGCCTTGGACGAGCCTGAGGG	0.587000														26			29		0	0	0.005443	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995786	57995786	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:57995786G>A	uc010rkd.2	-	0	605	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CGCAGGACGGGAGGCACATCG	0.622000														15			17		0	0	0.012319	0	0
GLYR1	84656	broad.mit.edu	37	16	4867659	4867659	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:4867659G>A	uc002cxx.4	-	9	883	c.846C>T	c.(844-846)atC>atT	p.I282I	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Silent_p.I196I|GLYR1_uc002cya.2_Silent_p.I282I|GLYR1_uc010uxv.1_Silent_p.I201I	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	282					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGTTGGAGACGATTCCACTTC	0.502000														51			20		0	0	0.010504	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322896	61322896	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:61322896G>A	uc002lji.3	-	7	1312	c.1168C>T	c.(1168-1170)Ccg>Tcg	p.P390S	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.P338S	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	390					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P390Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGCATCTACGGGGATGAGAAT	0.398000														32			55		0	0	0.014410	0	0
LTF	4057	broad.mit.edu	37	3	46497363	46497363	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:46497363G>A	uc003cpq.3	-	3	663	c.422C>T	c.(421-423)aCc>aTc	p.T141I	LTF_uc003fzr.3_Missense_Mutation_p.T97I|LTF_uc010hjh.3_Missense_Mutation_p.T141I|LTF_uc003cpr.3_Missense_Mutation_p.T128I	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	141	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CCATCCAGCGGTCCTGCGAAG	0.552000														22			13		0	0	0.002450	0	0
SOX30	11063	broad.mit.edu	37	5	157078245	157078245	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:157078245G>A	uc003lxb.1	-	0	1184	c.842C>T	c.(841-843)tCa>tTa	p.S281L	SOX30_uc003lxc.1_Missense_Mutation_p.S281L|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	281					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATCAGCTCTGAAGGCGGAGC	0.562000														40			19		0	0	0.014323	0	0
MLL2	8085	broad.mit.edu	37	19	36218823	36218823	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:36218823C>T	uc021usv.1	+	17	4434	c.4434C>T	c.(4432-4434)caC>caT	p.H1478H	MLL2_uc021usu.1_Silent_p.H292H	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCATGCGGCACTCGGAGGAGG	0.627000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				11			5		0	0	0.001168	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369756	77369756	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:77369756G>A	uc002ffc.4	-	11	2175	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	ADAMTS18_uc010chc.1_Missense_Mutation_p.R174W|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R282W	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	586					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						TGGATGGGCCGGGGCCCGAGC	0.587000														74			19		0	0	0.003954	0	0
FGF1	2246	broad.mit.edu	37	5	141993542	141993542	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:141993542C>T	uc003lmm.3	-	1	231	c.151G>A	c.(151-153)Gac>Aac	p.D51N	FGF1_uc011dbi.2_Missense_Mutation_p.D51N|FGF1_uc003lmn.4_Missense_Mutation_p.D51N|FGF1_uc003lmp.4_Missense_Mutation_p.D51N|FGF1_uc003lmq.3_Missense_Mutation_p.D51N|FGF1_uc010jgj.3_Missense_Mutation_p.D51N|FGF1_uc003lmr.3_Missense_Mutation_p.D51N|FGF1_uc003lms.4_Missense_Mutation_p.D51N|FGF1_uc021yew.1_Missense_Mutation_p.D51N	NM_001144892	NP_001138407	P05230	FGF1_HUMAN	Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA.	51					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TCGCTCCTGTCCCTTGTCCCA	0.542000														14			10		0	0	0.010729	0	0
PREX2	80243	broad.mit.edu	37	8	69046488	69046488	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:69046488C>T	uc003xxv.1	+	31	3988	c.3961C>T	c.(3961-3963)Cag>Tag	p.Q1321*		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1321					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.Q1321*(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTCACTTTCAGTCACTTCT	0.438000														45			19		0	0	0.007413	0	0
NFIX	4784	broad.mit.edu	37	19	13135903	13135903	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:13135903C>T	uc010xmx.2	+	1	173	c.120C>T	c.(118-120)aaC>aaT	p.N40N	NFIX_uc002mwd.3_Silent_p.N32N|NFIX_uc002mwe.3_Silent_p.N24N|NFIX_uc002mwf.3_Silent_p.N35N|NFIX_uc002mwg.2_Silent_p.N31N			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	32					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCTGGTTCAACCTGCAGGCGC	0.632000														10			5		0	0	0.000602	0	0
FAM124B	79843	broad.mit.edu	37	2	225266082	225266082	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:225266082G>A	uc002vnx.3	-	0	630	c.404C>T	c.(403-405)tCc>tTc	p.S135F	FAM124B_uc002vnw.3_Missense_Mutation_p.S135F	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	135							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CAGGATCTCGGAGCCACAGTG	0.537000														26			20		0	0	0.012319	0	0
SOX6	55553	broad.mit.edu	37	11	16119235	16119235	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:16119235C>T	uc001mme.3	-	8	971	c.938_splice	c.e8-1	p.G313_splice	SOX6_uc001mmd.3_Splice_Site_p.G303_splice|SOX6_uc001mmf.3_Splice_Site_p.G300_splice|SOX6_uc001mmg.3_Splice_Site_p.G300_splice	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	300	Poly-Ala.				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						TAGTTATCACCTGTCGGAAAG	0.458000														26			19		0	0	0.010504	0	0
GLP2R	9340	broad.mit.edu	37	17	9783724	9783724	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:9783724C>T	uc002gmd.1	+	10	1175	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	392					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTCCTCATTCCTTTATTGGGC	0.413000														71			65		0	0	0.014410	0	0
RGS7	6000	broad.mit.edu	37	1	240975334	240975334	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:240975334C>T	uc001hyt.2	-	6	516	c.462G>A	c.(460-462)ccG>ccA	p.P154P	RGS7_uc010pyh.2_Silent_p.P296P|RGS7_uc010pyj.1_Silent_p.P238P|RGS7_uc001hyu.2_Silent_p.P322P|RGS7_uc009xgn.1_Silent_p.P269P|RGS7_uc001hyv.2_Silent_p.P322P|RGS7_uc001hyw.2_Silent_p.P322P	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	322					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGCTGGCTCGGTTCTTTGC	0.393000														38			18		0	0	0.008871	0	0
PCLO	27445	broad.mit.edu	37	7	82583366	82583366	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:82583366C>T	uc003uhx.2	-	4	7192	c.6903G>A	c.(6901-6903)gtG>gtA	p.V2301V	PCLO_uc003uhv.2_Silent_p.V2301V|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2232					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						TGGCTTTCTTCACTGGGTCCT	0.408000														131			22		0	0	0.002780	0	0
CHST4	10164	broad.mit.edu	37	16	71570949	71570949	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:71570949C>T	uc021tkt.1	+	0	369	c.369C>T	c.(367-369)ctC>ctT	p.L123L	CHST4_uc002fan.3_Silent_p.L123L|CHST4_uc002fao.3_Silent_p.L123L	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	123					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGTCCAGCCTCTTTCAGTGGG	0.582000														38			6		0	0	0.004482	0	0
PHACTR2	9749	broad.mit.edu	37	6	144081548	144081548	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:144081548A>C	uc010khi.3	+	4	664	c.465A>C	c.(463-465)gaA>gaC	p.E155D	PHACTR2_uc003qjq.4_Missense_Mutation_p.E144D|PHACTR2_uc010khh.3_Intron|PHACTR2_uc003qjr.4_Intron	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	144							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGAACACTGAAAACCACTCTG	0.463000														4			5		0	0	0.000602	0	0
RIMS2	9699	broad.mit.edu	37	8	104898127	104898127	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:104898127C>T	uc003yls.3	+	1	875	c.634C>T	c.(634-636)Cct>Tct	p.P212S	RIMS2_uc003ylp.3_Missense_Mutation_p.P434S|RIMS2_uc003ylw.2_Missense_Mutation_p.P242S|RIMS2_uc003ylq.3_Missense_Mutation_p.P242S|RIMS2_uc003ylr.3_Missense_Mutation_p.P242S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	465					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion 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)			CCATAGTCCTCCTACCCCCAG	0.488000										HNSCC(12;0.0054)				33			25		0	0	0.002780	0	0
ATIC	471	broad.mit.edu	37	2	216213859	216213859	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:216213859C>T	uc002vex.4	+	14	1733	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	ATIC_uc010zjo.2_Missense_Mutation_p.P457S|ATIC_uc002vey.4_Missense_Mutation_p.P515S	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	516					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TGAGGAAGTCCCTGAGTTACT	0.448000			T	ALK	ALCL									47			43		0	0	0.014410	0	0
FZD1	8321	broad.mit.edu	37	7	90896063	90896063	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:90896063C>T	uc003ula.3	+	0	2281	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	623					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGGATCTGGTCCGGCAAGACC	0.597000														21			18		0	0	0.007413	0	0
OR7D4	125958	broad.mit.edu	37	19	9325290	9325290	+	Missense_Mutation	SNP	G	A	A	rs5020281		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9325290G>A	uc002mla.2	-	0	258	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	75			S -> C (in dbSNP:rs5020281).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GACTGTGGTGGAGATGAAACA	0.502000														34			17		0	0	0.004990	0	0
PSMA2	5683	broad.mit.edu	37	7	42966224	42966224	+	Silent	SNP	G	A	A	rs150444926	byFrequency	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:42966224G>A	uc003thy.3	-	2	210	c.162C>T	c.(160-162)tcC>tcT	p.S54S	C7orf25_uc010kxr.3_Intron|PSMA2_uc003thz.1_5'UTR	NM_002787	NP_002778	P25787	PSA2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 2 (PSMA2), mRNA.	54					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						CATACAGAATGGATTTCTGTT	0.358000														27			11		0	0	0.010729	0	0
OR2B3	442184	broad.mit.edu	37	6	29055016	29055016	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:29055016C>T	uc003nlx.3	-	0	75	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.									p.E4*(2)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CTCTCATTTTCCCAATTCATG	0.363000														24			4		0	0	0.009096	0	0
CACNA1S	779	broad.mit.edu	37	1	201052399	201052399	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:201052399G>A	uc001gvv.3	-	9	1511	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	428					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGACTTCACGATGTCATGGC	0.562000														44			31		0	0	0.013726	0	0
FASLG	356	broad.mit.edu	37	1	172634971	172634971	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:172634971G>A	uc001gis.3	+	3	818	c.661G>A	c.(661-663)Gat>Aat	p.D221N	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	221					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTATCCCCAGGATCTGGTGAT	0.517000														67			24		0	0	0.007291	0	0
TMEM117	84216	broad.mit.edu	37	12	44781983	44781983	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:44781983C>T	uc001rod.3	+	7	1139	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	TMEM117_uc001roe.3_Missense_Mutation_p.S254F|TMEM117_uc009zkc.3_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	358						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ACCAAGCTATCCTGGGAATGG	0.413000														34			36		0	0	0.003755	0	0
ZFHX3	463	broad.mit.edu	37	16	72821201	72821201	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:72821201G>A	uc002fck.3	-	9	11647	c.10974C>T	c.(10972-10974)gaC>gaT	p.D3658D	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.D2744D	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3658					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCGAATAGTCGTCTGTTGGCA	0.597000														47			45		0	0	0.010771	0	0
DEFA1	1667	broad.mit.edu	37	8	6873538	6873538	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:6873538C>T	uc003wqz.1	-	2	351	c.259G>A	c.(259-261)Gga>Aga	p.G87R		NM_004084	NP_005208	P59665	DEF1_HUMAN	Homo sapiens defensin, alpha 1 (DEFA1), mRNA.	87					chemotaxis|defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism|response to virus	extracellular space									COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		CAGAGTCTTCCCTGGTAGATG	0.473000														45			23		0	0	0.005443	0	0
OR52D1	390066	broad.mit.edu	37	11	5510551	5510551	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:5510551G>A	uc010qzg.2	+	0	637	c.615G>A	c.(613-615)gtG>gtA	p.V205V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T204N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTAACTGTGGCTCTGCTGG	0.498000														74			51		0	0	0.014410	0	0
SCG3	29106	broad.mit.edu	37	15	51981460	51981460	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:51981460G>A	uc002abh.3	+	5	988	c.585G>A	c.(583-585)gaG>gaA	p.E195E	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	195					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)		AAGTAGCAGAGGTTTTACAAA	0.373000														17			13		0	0	0.002450	0	0
ZNF573	126231	broad.mit.edu	37	19	38230580	38230580	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:38230580C>T	uc002ohe.3	-	4	880	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	ZNF573_uc010efs.2_Missense_Mutation_p.E184K|ZNF573_uc002ohd.3_Missense_Mutation_p.E269K|ZNF573_uc002ohf.3_Missense_Mutation_p.E213K|ZNF573_uc002ohg.3_Missense_Mutation_p.E183K|ZNF573_uc021utv.1_Missense_Mutation_p.E183K	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TATGGTTTTTCGCCAGTATGA	0.428000														44			27		0	0	0.006320	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874745	75874745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:75874745G>A	uc001sxs.3	+	0	233	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	GLIPR1_uc009zsb.1_Missense_Mutation_p.E29K	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	29					cellular lipid metabolic process	extracellular region|integral to membrane		p.E29K(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GCCAGATATCGAAAATGAAGA	0.403000														31			13		0	0	0.013537	0	0
MUC16	94025	broad.mit.edu	37	19	9062685	9062685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9062685C>T	uc002mkp.3	-	2	24965	c.24761G>A	c.(24760-24762)tGg>tAg	p.W8254*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8256	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGACTAGGCCATAACATATC	0.502000														24			14		0	0	0.003163	0	0
CNTRL	11064	broad.mit.edu	37	9	123904444	123904444	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:123904444C>T	uc004bkx.1	+	16	2798	c.2767C>T	c.(2767-2769)Cta>Tta	p.L923L	CNTRL_uc004bky.1_Silent_p.L527L|CNTRL_uc004bla.1_Silent_p.L371L|CNTRL_uc010mvo.1_5'Flank	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	923					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCAAGAAAATCTAAAAAGTAT	0.378000														21			18		0	0	0.007413	0	0
IL20RB	53833	broad.mit.edu	37	3	136701038	136701038	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:136701038C>T	uc003eri.2	+	2	501	c.252C>T	c.(250-252)atC>atT	p.I84I	IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_5'UTR	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	84	Fibronectin type-III 1.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACATCTGGATCCCCAGCAGCT	0.557000														20			9		0	0	0.001855	0	0
ATP1A3	478	broad.mit.edu	37	19	42485885	42485885	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:42485885G>A	uc002osh.3	-	9	1445	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	ATP1A3_uc010xwf.2_Missense_Mutation_p.P442S|ATP1A3_uc010xwg.2_Missense_Mutation_p.P401S|ATP1A3_uc002osg.3_Missense_Mutation_p.P431S|ATP1A3_uc010xwh.2_Missense_Mutation_p.P444S			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	431					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.P431T(2)		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						TTGAGCACAGGGATGTTGTCC	0.592000														21			6		0	0	0.001984	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770733	145770733	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:145770733G>A	uc003zds.1	-	6	2976	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	ARHGAP39_uc011llk.1_Silent_p.L807L|ARHGAP39_uc003zdt.1_Silent_p.L807L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	807	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGATGGCCATGAGCTCCCAGC	0.637000														24			15		0	0	0.003163	0	0
PCDH15	65217	broad.mit.edu	37	10	55591165	55591165	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:55591165C>T	uc010qhy.1	-	30	4522	c.4127G>A	c.(4126-4128)gGa>gAa	p.G1376E	PCDH15_uc010qhq.2_Missense_Mutation_p.G1376E|PCDH15_uc010qhr.2_Missense_Mutation_p.G1371E|PCDH15_uc021pqv.1_Missense_Mutation_p.G1371E|PCDH15_uc021pqw.1_Missense_Mutation_p.G1383E|PCDH15_uc010qht.2_Missense_Mutation_p.G1378E|PCDH15_uc021pqx.1_Missense_Mutation_p.G1371E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G1371E|PCDH15_uc021pqz.1_Missense_Mutation_p.G1349E|PCDH15_uc010qhv.1_Missense_Mutation_p.G1371E|PCDH15_uc010qhw.1_Missense_Mutation_p.G1334E|PCDH15_uc010qhx.1_Missense_Mutation_p.G1300E|PCDH15_uc010qhz.1_Missense_Mutation_p.G1371E|PCDH15_uc010qia.1_Missense_Mutation_p.G1349E|PCDH15_uc001jju.1_Missense_Mutation_p.G1371E|PCDH15_uc010qib.1_Missense_Mutation_p.G1349E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1371					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTGTGTATCCTAGACTTTC	0.483000										HNSCC(58;0.16)				21			44		0	0	0.009718	0	0
GLG1	2734	broad.mit.edu	37	16	74524922	74524922	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:74524922G>A	uc002fcx.3	-	7	1476	c.1426C>T	c.(1426-1428)Ctt>Ttt	p.L476F	GLG1_uc002fcw.4_Missense_Mutation_p.L465F|GLG1_uc002fcy.4_Missense_Mutation_p.L476F|GLG1_uc002fcz.4_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	476						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCATTCCAAGGTTCCCCTTC	0.498000														48			12		0	0	0.002450	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182850861	182850861	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:182850861G>A	uc010frm.1	+	0	311	c.24G>A	c.(22-24)aaG>aaA	p.K8K	PPP1R1C_uc002uoo.3_Silent_p.K8K|PPP1R1C_uc002uop.1_Silent_p.K8K|PPP1R1C_uc010frn.1_Non-coding_Transcript	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA.	8					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			GTCCCAAAAAGATACAGTTTG	0.448000														68			36		0	0	0.011902	0	0
AGK	55750	broad.mit.edu	37	7	141341053	141341053	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:141341053G>A	uc003vwi.2	+	11	903	c.732G>A	c.(730-732)tgG>tgA	p.W244*	AGK_uc011krg.1_Intron	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	244					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AAAAGGAGTGGCCTCAGACTC	0.433000														20			29		0	0	0.003755	0	0
MTL5	9633	broad.mit.edu	37	11	68478403	68478403	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:68478403C>T	uc001ooc.3	-	8	1413	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	425					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGCTGCCTTCCAAACCTCCA	0.418000														19			19		0	0	0.008871	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967660	41967660	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:41967660C>T	uc010skn.2	+	9	3087	c.3079C>T	c.(3079-3081)Cat>Tat	p.H1027Y	PDZRN4_uc001rmq.4_Missense_Mutation_p.H769Y|PDZRN4_uc009zjz.3_Missense_Mutation_p.H767Y|PDZRN4_uc001rmr.3_Missense_Mutation_p.H654Y	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	1027							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)				CACGAGAGTCCATAATGCCTT	0.443000														36			5		0	0	0.000602	0	0
GPR158	57512	broad.mit.edu	37	10	25886856	25886856	+	Silent	SNP	G	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:25886856G>C	uc001isj.3	+	10	2361	c.2301G>C	c.(2299-2301)cgG>cgC	p.R767R	GPR158_uc001isk.3_Silent_p.R142R	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	767						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R767L(1)		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						CAGTCAGCCGGCAGTGCTCTA	0.572000														15			39		0	0	0.004878	0	0
OR5R1	219479	broad.mit.edu	37	11	56185123	56185123	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:56185123C>T	uc010rji.2	-	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAGAATTTCCTTCATGTGT	0.433000														23			26		0	0	0.003330	0	0
TOM1L1	10040	broad.mit.edu	37	17	53014064	53014064	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:53014064C>T	uc002iud.2	+	8	1084	c.909C>T	c.(907-909)gcC>gcT	p.A303A	TOM1L1_uc002iuc.3_Silent_p.A303A|TOM1L1_uc010dca.1_Silent_p.A303A|TOM1L1_uc010wnb.1_Silent_p.A296A|TOM1L1_uc010wnc.1_Silent_p.A226A|TOM1L1_uc010dbz.2_Silent_p.A226A|TOM1L1_uc010wnd.1_Silent_p.A191A|TOM1L1_uc010dcb.1_Non-coding_Transcript	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	303					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						AGAAGGAAGCCACCAATGTAA	0.303000														37			5		0	0	0.000602	0	0
JAG2	3714	broad.mit.edu	37	14	105609037	105609037	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:105609037C>T	uc001yqg.3	-	25	4116	c.3712G>A	c.(3712-3714)Gag>Aag	p.E1238K	JAG2_uc001yqf.3_Missense_Mutation_p.E642K|JAG2_uc001yqh.3_Missense_Mutation_p.E1200K	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1238					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGCCCCTACTCCTTGCCGGCG	0.706000														4			3		0	0	0.009096	0	0
BCKDHA	593	broad.mit.edu	37	19	41925134	41925134	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:41925134C>T	uc002oqq.3	+	4	618	c.579C>T	c.(577-579)gtC>gtT	p.V193V	BCKDHA_uc002oqm.4_Silent_p.V227V|BCKDHA_uc002oqp.2_Silent_p.V85V|BCKDHA_uc002oqr.3_Silent_p.V193V|BCKDHA_uc010xvz.2_Silent_p.V171V	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	193					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGATGCCTGTCCACTACGGCT	0.572000														13			10		0	0	0.006214	0	0
BCAM	4059	broad.mit.edu	37	19	45322970	45322970	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:45322970G>A	uc002ozu.3	+	12	1794	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	BCAM_uc002ozt.1_Missense_Mutation_p.E584K	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	584					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCAGCGGCGGGAGAAGGGGGC	0.632000														46			22		0	0	0.004656	0	0
PHF13	148479	broad.mit.edu	37	1	6680321	6680321	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:6680321C>T	uc001aob.4	+	2	971	c.600C>T	c.(598-600)atC>atT	p.I200I		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	200					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AACGGACTATCGTCCGGCAGG	0.537000														31			14		0	0	0.001855	0	0
PTGFR	5737	broad.mit.edu	37	1	78958951	78958951	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:78958951C>T	uc001din.3	+	1	789	c.523C>T	c.(523-525)Cga>Tga	p.R175*	PTGFR_uc001dim.3_Nonsense_Mutation_p.R175*	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	175					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCTTGGACATCGAGACTATAA	0.373000														77			64		0	0	0.014410	0	0
ZAN	7455	broad.mit.edu	37	7	100350705	100350705	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100350705C>T	uc003uwj.3	+	13	3142	c.2977C>T	c.(2977-2979)Ccc>Tcc	p.P993S	ZAN_uc003uwk.3_Missense_Mutation_p.P993S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	993	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATTCCCACAGAGAA	0.562000														31			38		0	0	0.006230	0	0
CEP250	11190	broad.mit.edu	37	20	34091156	34091156	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:34091156C>T	uc021wco.1	+	29	5606	c.4959C>T	c.(4957-4959)ctC>ctT	p.L1653L	CEP250_uc010zve.2_Silent_p.L1021L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1653	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTCAGGATCTCGAGAGGAGAG	0.567000														77			41		0	0	0.009718	0	0
UBE3C	9690	broad.mit.edu	37	7	156967649	156967649	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:156967649C>T	uc010lqs.3	+	4	691	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	UBE3C_uc003wnf.2_Silent_p.L84L|UBE3C_uc003wng.2_Silent_p.L127L	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	127					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.L127M(2)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACACAGCTCTCTGTTTGTCAA	0.318000														67			16		0	0	0.004007	0	0
DUSP18	150290	broad.mit.edu	37	22	31059833	31059833	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:31059833G>A	uc003aiu.3	-	1	659	c.158C>T	c.(157-159)tCa>tTa	p.S53L	SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Non-coding_Transcript|DUSP18_uc003aiw.1_Missense_Mutation_p.S53L|DUSP18_uc021wnv.1_Missense_Mutation_p.S53L	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.	53						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TACCTCCACTGAGACATTGAT	0.483000														27			105		0	0	0.014410	0	0
BC040576	0	broad.mit.edu	37	22	25679005	25679005	+	RNA	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:25679005C>T	uc003abq.1	-	0		c.57G>A								Homo sapiens cDNA clone IMAGE:5267701.																		GCAAGAGGACCGTCCTGCCCG	0.721000														3			5		0	0	0.001168	0	0
GALNT14	79623	broad.mit.edu	37	2	31178493	31178493	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:31178493C>T	uc002rns.3	-	6	1300	c.660G>A	c.(658-660)agG>agA	p.R220R	GALNT14_uc002rnq.3_Silent_p.R195R|GALNT14_uc010ymr.2_Silent_p.R180R|GALNT14_uc002rnr.3_Silent_p.R215R|GALNT14_uc010ezo.2_Silent_p.R182R|GALNT14_uc010ezp.1_Silent_p.R186R	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	215						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCTTTGACCCTGTGCAACA	0.612000														34			14		0	0	0.004007	0	0
FLG	2312	broad.mit.edu	37	1	152283067	152283067	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152283067C>T	uc001ezu.1	-	2	4331	c.4295G>A	c.(4294-4296)gGg>gAg	p.G1432E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1432	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCTTTCCCCTGACTGGCC	0.567000									Ichthyosis					89			66		0	0	0.014410	0	0
AKAP9	10142	broad.mit.edu	37	7	91713966	91713966	+	Missense_Mutation	SNP	C	T	T	rs146689921		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:91713966C>T	uc003ulg.3	+	33	8884	c.8659C>T	c.(8659-8661)Cct>Tct	p.P2887S	AKAP9_uc003ulf.3_Missense_Mutation_p.P2879S|AKAP9_uc003uli.3_Missense_Mutation_p.P2510S|AKAP9_uc003ulj.3_Missense_Mutation_p.P657S|AKAP9_uc003ulk.3_Missense_Mutation_p.P162S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2899					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.V2886V(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATCCTCAATTCCTGAGCTAGC	0.299000			T	BRAF	papillary thyroid									60			12		0	0	0.013537	0	0
ACAN	176	broad.mit.edu	37	15	89398549	89398549	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:89398549C>T	uc010upo.1	+	11	3107	c.2733C>T	c.(2731-2733)ggC>ggT	p.G911G	ACAN_uc010upp.1_Silent_p.G911G|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	911					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGGCTCAGGCCTGCCTGTGG	0.582000														7			15		0	0	0.002450	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13695858	13695858	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:13695858G>A	uc009vny.1	-	2	1154	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_001099850	NP_001093260	Q5VWM3	PRA18_HUMAN	Homo sapiens PRAME family member 18 (PRAMEF18), mRNA.	369										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAGGCAGGATGACCCTGA	0.567000														112			100		0	0	0.014410	0	0
PREP	5550	broad.mit.edu	37	6	105730374	105730374	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:105730374G>A	uc003prc.3	-	12	1866	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	545					proteolysis		serine-type endopeptidase activity	p.P545L(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGCCTCTTGGGAGATGTGTAA	0.438000														66			33		0	0	0.013726	0	0
PLB1	151056	broad.mit.edu	37	2	28719005	28719005	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:28719005C>T	uc002rmb.2	+	0	68	c.24C>T	c.(22-24)ttC>ttT	p.F8F	PLB1_uc010ezj.2_Silent_p.F8F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	8					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCATTTTCCTCCTGGAGC	0.597000														44			23		0	0	0.005443	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834043	125834043	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:125834043C>T	uc001uhe.1	+	1	106	c.98C>T	c.(97-99)tCg>tTg	p.S33L	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	33						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGTTTTCCTCGCTCCCTGCT	0.463000														80			32		0	0	0.003755	0	0
OR7E24	26648	broad.mit.edu	37	19	9362280	9362280	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9362280C>T	uc002mlb.1	+	0	561	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCACCTGCTTCAAGGATGTGG	0.408000														27			11		0	0	0.008291	0	0
COL27A1	85301	broad.mit.edu	37	9	116931602	116931602	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:116931602C>T	uc011lxl.2	+	2	1767	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.A439A	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	589	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCACCCCGGCCCTGGTATTGG	0.652000														35			15		0	0	0.004990	0	0
TLE1	7088	broad.mit.edu	37	9	84225190	84225190	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:84225190G>A	uc004alz.3	-	13	1747	c.1306C>T	c.(1306-1308)Cac>Tac	p.H436Y	TLE1_uc004aly.3_Missense_Mutation_p.H426Y|TLE1_uc011lsr.2_Missense_Mutation_p.H411Y|TLE1_uc004ama.1_Missense_Mutation_p.H425Y	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	426	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACTCTCATGTGAGGGGGAGGA	0.448000														23			19		0	0	0.008871	0	0
CACNA1A	773	broad.mit.edu	37	19	13340940	13340940	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:13340940C>T	uc002mwy.3	-	35	5720	c.5484G>A	c.(5482-5484)ctG>ctA	p.L1828L	CACNA1A_uc002mwx.3_Silent_p.L534L|CACNA1A_uc010dzc.2_Silent_p.L1354L|CACNA1A_uc010xnd.2_Silent_p.L1831L|CACNA1A_uc021ups.1_Silent_p.L1828L|CACNA1A_uc010xne.2_Silent_p.L1831L|CACNA1A_uc010dze.2_Silent_p.L1828L|CACNA1A_uc021upt.1_Silent_p.L1829L|CACNA1A_uc002mwv.3_Silent_p.L345L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1829					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGTACTCATCCAGGTGGTGGG	0.587000														13			11		0	0	0.013537	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	112440	112440	+	Splice_Site	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrGL000209.1:112440A>C	uc002qtt.2	+	8	903	c.874_splice	c.e8-1	p.D292_splice	KIR2DL2_uc021vdc.1_5'Flank|KIR2DL2_uc021vdd.1_5'Flank|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Splice_Site_p.D292_splice|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Splice_Site_p.D292_splice|KIR2DL2_uc002qum.3_5'Flank	NM_012313	NP_036445	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA.	291					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCTCTCCAGGATTCTGATGAA	0.507000														200			26		0	0	0.010818	0	0
COL27A1	85301	broad.mit.edu	37	9	117072864	117072864	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:117072864C>T	uc011lxl.2	+	60	5472	c.5472C>T	c.(5470-5472)acC>acT	p.T1824T	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Silent_p.T139T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1824	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACTCTTCACCTTCCGGACCC	0.537000														30			18		0	0	0.006122	0	0
ZBP1	81030	broad.mit.edu	37	20	56185226	56185226	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:56185226C>T	uc002xyo.3	-	6	1353	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	ZBP1_uc010gjm.3_Missense_Mutation_p.G357R|ZBP1_uc002xyp.3_Missense_Mutation_p.G283R	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	358						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCTGGCTCCCCCTCTCCAGAC	0.587000														64			19		0	0	0.008871	0	0
DRD2	1813	broad.mit.edu	37	11	113295249	113295249	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:113295249G>A	uc001pnz.3	-	0	446	c.125C>T	c.(124-126)aCc>aTc	p.T42I	DRD2_uc010rwv.2_Missense_Mutation_p.T42I|DRD2_uc001poa.4_Missense_Mutation_p.T42I|DRD2_uc001pob.4_Missense_Mutation_p.T42I|DRD2_uc009yyr.1_Missense_Mutation_p.T42I	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	42					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GATGAGCAGGGTGAGCAGTGT	0.587000														46			26		0	0	0.004656	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563504	140563504	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140563504C>T	uc003liv.3	+	0	2525	c.1370C>T	c.(1369-1371)aCc>aTc	p.T457I		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	457	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTCCTACACCCTGTTCGTC	0.562000														40			32		0	0	0.003755	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779095	140779095	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140779095C>T	uc003lkf.2	+	0	1401	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.I467I	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	473	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCTCCATCGCGCAAGTCT	0.567000														8			19		0	0	0.012319	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760911	119760911	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:119760911G>A	uc022cdo.1	-	0	111	c.111C>T	c.(109-111)caC>caT	p.H37H	C1GALT1C1_uc004esy.3_Silent_p.H37H|C1GALT1C1_uc004esz.3_Silent_p.H37H	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	Homo sapiens C1GALT1-specific chaperone 1 (C1GALT1C1), transcript variant 1, mRNA.	37						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						GCTCATGGTGGTGCATTCTAT	0.418000														28			53		0	0	0.014410	0	0
CHI3L2	1117	broad.mit.edu	37	1	111783990	111783990	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:111783990G>A	uc001eam.3	+	8	1031	c.960G>A	c.(958-960)caG>caA	p.Q320Q	CHI3L2_uc001ean.3_Silent_p.Q310Q|CHI3L2_uc001eao.3_Silent_p.Q241Q	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	320					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CGCGGCTCCAGGATCAACAGG	0.532000														35			34		0	0	0.013726	0	0
TSGA10	80705	broad.mit.edu	37	2	99695239	99695239	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:99695239T>G	uc002szg.4	-	9	1393	c.765A>C	c.(763-765)gaA>gaC	p.E255D	TSGA10_uc002szh.4_Missense_Mutation_p.E255D|TSGA10_uc002szi.4_Missense_Mutation_p.E255D|TSGA10_uc010fin.1_Missense_Mutation_p.E255D|TSGA10_uc010yvn.1_Missense_Mutation_p.E255D	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	255					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GAATGCTGATTTCTTCTCGCT	0.338000														46			6		0	0	0.001168	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825806	146825806	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:146825806T>G	uc003weu.2	+	6	1477	c.961T>G	c.(961-963)Ttc>Gtc	p.F321V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	321	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGCATCCCTTTCTCTGGCAA	0.393000										HNSCC(39;0.1)				62			16		0	0	0.004007	0	0
PXT1	222659	broad.mit.edu	37	6	36368262	36368263	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:36368262_36368263CC>TT	uc003omd.2	-	3	752_753	c.268_269GG>AA	c.(268-270)ggg>AAg	p.G90K		NM_152990	NP_694535	Q8NFP0	PXT1_HUMAN	Homo sapiens peroxisomal, testis specific 1 (PXT1), mRNA.	7						peroxisome											AATGTTGTCCCCAATGTGTCTC	0.485000														82			19		0	0	0.004672	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045004	55045005	+	RNA	DNP	GG	AA	AA			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:55045004_55045005GG>AA	uc010yfa.1	+	2		c.230_231GG>AA			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGTTCCCCTAGGAGGACGTGTG	0.554000														36			9		0	0	0.004672	0	0
FRYL	285527	broad.mit.edu	37	4	48545867	48545867	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:48545867G>A	uc003gyh.1	-	43	6154	c.5549C>T	c.(5548-5550)tCc>tTc	p.S1850F	FRYL_uc003gyg.1_Missense_Mutation_p.S546F|FRYL_uc003gyi.1_Missense_Mutation_p.S738F|FRYL_uc003gyj.1_Missense_Mutation_p.S145F	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1850					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TACAAGTCTGGAGAGAACATC	0.438000														12			28		0	0	0.005524	0	0
DNAH9	1770	broad.mit.edu	37	17	11520784	11520784	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:11520784G>A	uc002gne.3	+	4	1029	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	321	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCGCCACCTGGAAGCTCTGGA	0.577000														18			5		0	0	0.000602	0	0
KIF18A	81930	broad.mit.edu	37	11	28112954	28112954	+	Splice_Site	SNP	A	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:28112954A>T	uc001msc.2	-	4	770	c.588_splice	c.e4+1	p.Q196_splice		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	196	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTATATACATACCTGGTGTAA	0.388000														69			15		0	0	0.006122	0	0
ABCA8	10351	broad.mit.edu	37	17	66938086	66938086	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:66938086G>A	uc002jhq.3	-	2	430	c.90C>T	c.(88-90)tcC>tcT	p.S30S	ABCA8_uc002jhp.3_Silent_p.S30S|ABCA8_uc010wqq.2_Silent_p.S30S|ABCA8_uc010wqr.2_Intron|ABCA8_uc002jhr.3_Silent_p.S30S|ABCA8_uc002jhs.3_Silent_p.S30S|ABCA8_uc002jht.3_Silent_p.S30S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	30						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATACCATTAAGGACTCTCTTT	0.378000														47			22		0	0	0.010504	0	0
FSD1	79187	broad.mit.edu	37	19	4317268	4317268	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:4317268G>A	uc002lzy.2	+	7	943	c.790G>A	c.(790-792)Gag>Aag	p.E264K	FSD1_uc002maa.2_Missense_Mutation_p.E77K	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	264	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGACTCTGGAGACACCAGG	0.537000														30			23		0	0	0.003330	0	0
LRP1B	53353	broad.mit.edu	37	2	141081480	141081480	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:141081480G>A	uc002tvj.1	-	80	13468	c.12496C>T	c.(12496-12498)Cgt>Tgt	p.R4166C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4166					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R4166C(4)		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)		TGTTTATAACGATGAGATATC	0.244000										TSP Lung(27;0.18)				68			27		0	0	0.006320	0	0
SPEF2	79925	broad.mit.edu	37	5	35806838	35806838	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:35806838G>A	uc003jjo.3	+	34	5151	c.5040G>A	c.(5038-5040)gaG>gaA	p.E1680E	SPEF2_uc003jjp.1_Silent_p.E1166E|SPEF2_uc003jjr.3_Silent_p.E735E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1680					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCCAGCTGAGGAATTTCCTG	0.393000														49			6		0	0	0.001984	0	0
CETN1	1068	broad.mit.edu	37	18	580847	580847	+	Missense_Mutation	SNP	G	A	A	rs143489830		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:580847G>A	uc002kko.1	+	0	479	c.439G>A	c.(439-441)Gac>Aac	p.D147N		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	147	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGAGATGATCGACGAAGCTGA	0.537000														19			27		0	0	0.008361	0	0
DSCAM	1826	broad.mit.edu	37	21	41668072	41668072	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:41668072C>T	uc002yyq.1	-	9	2544	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	698	Ig-like C2-type 8.				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)				CCGTCCTGGTCCCGTGGCTGA	0.433000														24			21		0	0	0.010504	0	0
FBLN1	2192	broad.mit.edu	37	22	45959046	45959046	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:45959046C>T	uc010gzz.3	+	15	2213	c.2066C>T	c.(2065-2067)cCc>cTc	p.P689L	FBLN1_uc003bgh.3_Missense_Mutation_p.P651L|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	669					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTCCCCGAGCCCAGGGACTTG	0.612000														12			53		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182643	140182644	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140182643_140182644CC>TT	uc003lhf.2	+	0	1861_1862	c.1861_1862CC>TT	c.(1861-1863)ccg>TTg	p.P621L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P621L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	632	Cadherin 6.				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)			TGCGCGCATCCCGTTTCGCGTG	0.668000														25			8		0	0	0.004672	0	0
SMG7	9887	broad.mit.edu	37	1	183502837	183502837	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:183502837T>C	uc001gqg.3	+	9	1283	c.1033T>C	c.(1033-1035)Tgt>Cgt	p.C345R	SMG7_uc010pob.2_Missense_Mutation_p.C374R|SMG7_uc021pga.1_Missense_Mutation_p.C303R|SMG7_uc001gqf.3_Missense_Mutation_p.C345R|SMG7_uc001gqh.3_Missense_Mutation_p.C345R|SMG7_uc010poc.2_Missense_Mutation_p.C303R	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	345					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.C345Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCTGTGCAAGTGTCCTCTACA	0.413000														41			17		0	0	0.004990	0	0
ZFAT	57623	broad.mit.edu	37	8	135521977	135521977	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:135521977G>A	uc003yup.3	-	14	3563	c.3377C>T	c.(3376-3378)cCc>cTc	p.P1126L	ZFAT_uc011ljj.2_Missense_Mutation_p.P245L|ZFAT_uc003yun.3_Missense_Mutation_p.P1114L|ZFAT_uc003yuo.3_Missense_Mutation_p.P1114L|ZFAT_uc010meh.3_Intron|ZFAT_uc010mej.3_Missense_Mutation_p.P1064L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.P1114L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1126					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)			CACGGCCGTGGGGTCCAGTCG	0.592000														54			24		0	0	0.005443	0	0
RNPEP	6051	broad.mit.edu	37	1	201970811	201970811	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:201970811C>T	uc001gxd.3	+	7	1371	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	RNPEP_uc001gxe.3_Nonsense_Mutation_p.R149*	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	448					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		ATTCAAATTCCGAAGCATCTT	0.493000														81			67		0	0	0.014410	0	0
ODF2	4957	broad.mit.edu	37	9	131260847	131260847	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:131260847G>A	uc004bvc.3	+	18	2446	c.2360G>A	c.(2359-2361)aGg>aAg	p.R787K	ODF2_uc004bvb.3_Missense_Mutation_p.R699K|ODF2_uc011mbd.2_Missense_Mutation_p.R723K|ODF2_uc011mbe.2_Missense_Mutation_p.R718K|ODF2_uc004bvd.4_Missense_Mutation_p.R723K|ODF2_uc004bvh.3_Missense_Mutation_p.R129K	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	723					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						gaagatgcgaggaggcaggtc	0.527000														9			5		0	0	0.000602	0	0
GNA12	2768	broad.mit.edu	37	7	2771124	2771124	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:2771124G>A	uc003smu.3	-	3	1001	c.837C>T	c.(835-837)acC>acT	p.T279T	GNA12_uc011jwb.2_Silent_p.T262T|GNA12_uc003smt.3_Silent_p.T220T	NM_007353	NP_031379	Q03113	GNA12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA.	279					G-protein signaling, coupled to cAMP nucleotide second messenger|Rho protein signal transduction|platelet activation	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TGTTGACGATGGTCTCGAAGA	0.537000														37			39		0	0	0.004878	0	0
C2orf40	84417	broad.mit.edu	37	2	106694293	106694293	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:106694293C>T	uc010fjf.3	+	3	466	c.358C>T	c.(358-360)Caa>Taa	p.Q120*		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	120						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CGATTACTACCAACGTCACTA	0.453000														42			22		0	0	0.014323	0	0
EPPK1	83481	broad.mit.edu	37	8	144945889	144945889	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:144945889C>T	uc003zaa.1	-	0	1546	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	511						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCAGCTCCCAGAGGGACA	0.652000														9			11		0	0	0.010729	0	0
PLS1	5357	broad.mit.edu	37	3	142405183	142405183	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:142405183G>A	uc010huv.3	+	8	1105	c.946G>A	c.(946-948)Gga>Aga	p.G316R	PLS1_uc003euz.3_Missense_Mutation_p.G316R|PLS1_uc003eva.3_Missense_Mutation_p.G316R	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	316	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGGGGAAGATGGACCTGCCAT	0.338000														30			29		0	0	0.004878	0	0
CACNB4	785	broad.mit.edu	37	2	152711872	152711872	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:152711872T>G	uc002tya.3	-	10	954	c.886A>C	c.(886-888)Att>Ctt	p.I296L	CACNB4_uc002txy.3_Missense_Mutation_p.I262L|CACNB4_uc002txz.3_Missense_Mutation_p.I278L|CACNB4_uc010fnz.3_Missense_Mutation_p.I296L	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	296					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)	ATTCTTTCAATTTCACTTTGT	0.333000														21			14		0	0	0.001855	0	0
OR4N5	390437	broad.mit.edu	37	14	20612380	20612380	+	Silent	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20612380T>C	uc010tla.2	+	0	486	c.486T>C	c.(484-486)ctT>ctC	p.L162L		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AAGTAGCCCTTATCCTGCACT	0.478000														52			23		0	0	0.014323	0	0
CRTC2	200186	broad.mit.edu	37	1	153923935	153923935	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:153923935G>A	uc021pab.1	-	10	1364	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	402	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.S402F(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ggaggaggaggaagaggagga	0.677000														8			7		0	0	0.001984	0	0
ZFP3	124961	broad.mit.edu	37	17	4994885	4994885	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:4994885C>T	uc002gaq.3	+	1	211	c.86C>T	c.(85-87)cCa>cTa	p.P29L	ZFP3_uc021tog.1_Missense_Mutation_p.P29L	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAAAAATTTCCAAAAGTGGTT	0.423000														20			29		0	0	0.008361	0	0
TG	7038	broad.mit.edu	37	8	134128868	134128868	+	Silent	SNP	C	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:134128868C>A	uc003ytw.3	+	44	7811	c.7770C>A	c.(7768-7770)atC>atA	p.I2590I	TG_uc010mdw.3_Silent_p.I1349I|TG_uc011ljb.2_Silent_p.I959I|TG_uc011ljc.2_Silent_p.I723I	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2590					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)		ACTTTATCATCTGCCCTATAA	0.537000														48			18		3.08376e-08	4.96999e-08	0.003330	1	0
TTC40	54777	broad.mit.edu	37	10	134628402	134628402	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:134628402C>A	uc021qbc.1	-	50	7235	c.7134G>T	c.(7132-7134)aaG>aaT	p.K2378N		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	539										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTCTTCCCTCCTTTTTCACGC	0.572000														36			78		6.64032e-35	1.08721e-34	0.014410	1	0
OR5W2	390148	broad.mit.edu	37	11	55681218	55681218	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:55681218C>A	uc010rir.2	-	0	841	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATGGGAACCACAAGGGTGTAA	0.378000														26			11		6.40141e-05	0.000103023	0.010729	1	0
GRIA4	2893	broad.mit.edu	37	11	105623843	105623843	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:105623843C>T	uc001pix.2	+	3	830	c.384C>T	c.(382-384)agC>agT	p.S128S	GRIA4_uc001piu.1_Silent_p.S128S|GRIA4_uc001piw.2_Silent_p.S128S|GRIA4_uc001piv.3_Silent_p.S128S|GRIA4_uc009yxk.1_Silent_p.S128S	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	128					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.S128R(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGGGGGAGAGCCAGTTTGTGC	0.473000														17			20		0	0	0.012319	0	0
ACE	1636	broad.mit.edu	37	17	61568744	61568744	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:61568744T>C	uc002jau.2	+	19	2946	c.2912_splice	c.e19+2	p.R971_splice	ACE_uc010wpj.2_Splice_Site_p.R397_splice|ACE_uc010ddv.2_Splice_Site_p.R198_splice|ACE_uc002jav.2_Splice_Site_p.R397_splice|ACE_uc002jaw.2_Splice_Site|ACE_uc010wpk.2_Splice_Site_p.R217_splice	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	971	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGACTTCCGGTACATCCAGCT	0.612000														21			27		0	0	0.008361	0	0
STAT3	6774	broad.mit.edu	37	17	40485919	40485919	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:40485919A>T	uc002hzl.1	-	8	1186	c.946T>A	c.(946-948)Tta>Ata	p.L316I	STAT3_uc002hzk.1_Missense_Mutation_p.L316I|STAT3_uc002hzm.1_Missense_Mutation_p.L316I|STAT3_uc010wgh.1_Missense_Mutation_p.L218I|STAT3_uc002hzn.1_Missense_Mutation_p.L316I	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	316					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTTTCATTAAGTTTCTAAAC	0.468000									Hyperimmunoglobulin E Recurrent Infection Syndrome					14			27		0	0	0.006320	0	0
CARD11	84433	broad.mit.edu	37	7	2949686	2949686	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:2949686G>A	uc003smv.3	-	23	3592	c.3258C>T	c.(3256-3258)ttC>ttT	p.F1086F		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1086	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.P1086T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCCCTACCTGAACCTCTTGA	0.592000			Mis		DLBCL									30			36		0	0	0.006999	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679968	3679968	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:3679968G>A	uc002wja.3	-	6	1667	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P556L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	556	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTGCTGCCGGGACCCTCGTG	0.677000														6			5		0	0	0.000602	0	0
ODF1	4956	broad.mit.edu	37	8	103573090	103573090	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:103573090C>T	uc003ykt.2	+	1	839	c.731C>T	c.(730-732)tCc>tTc	p.S244F		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	244					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCCGATTTTCCTGTAGGAAG	0.532000														67			30		0	0	0.003755	0	0
HEG1	57493	broad.mit.edu	37	3	124739640	124739640	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:124739640G>A	uc011bke.2	-	3	1316	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	HEG1_uc003ehs.4_Silent_p.S416S	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	385						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACTTACTTGGGGAATCATTTT	0.383000														36			21		0	0	0.010504	0	0
ZNF609	23060	broad.mit.edu	37	15	64970588	64970588	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:64970588C>T	uc002ann.3	+	4	3676	c.3676C>T	c.(3676-3678)Ccc>Tcc	p.P1226S		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1226						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCTACATCCCCTACATGCA	0.602000														41			14		0	0	0.006122	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117491	117491	+	RNA	SNP	G	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrGL000205.1:117491G>C	uc002kgk.4	+	0		c.869G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGCAGGTGGGCAGTGGCTAC	0.582000														17			6		0	0	0.001984	0	0
FBXO40	51725	broad.mit.edu	37	3	121340659	121340659	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:121340659C>T	uc003eeg.2	+	2	593	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	128					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)		TTGGACACAGCCCTGGCCCTG	0.498000														21			17		0	0	0.004007	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528517	6528517	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:6528517G>A	uc001anp.1	-	20	3108	c.2610C>T	c.(2608-2610)gcC>gcT	p.A870A	PLEKHG5_uc001ann.1_Silent_p.A830A|PLEKHG5_uc001ano.1_Silent_p.A849A|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Silent_p.A354A|PLEKHG5_uc009vma.1_Silent_p.A633A|PLEKHG5_uc010nzr.1_Silent_p.A862A|PLEKHG5_uc001ank.1_Silent_p.A793A|PLEKHG5_uc009vmb.1_Silent_p.A793A|PLEKHG5_uc001anl.1_Silent_p.A793A|PLEKHG5_uc001anm.1_Silent_p.A793A	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	849					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCAGATGAGGCAGTGGTGC	0.647000														13			10		0	0	0.006214	0	0
MICALCL	84953	broad.mit.edu	37	11	12315214	12315214	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:12315214C>T	uc001mkg.1	+	2	527	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	79	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGGGAAATTCCCCTGTATCTG	0.582000														85			24		0	0	0.004656	0	0
EFHB	151651	broad.mit.edu	37	3	19975432	19975432	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:19975432G>A	uc003cbl.4	-	0	275	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	EFHB_uc003cbm.3_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	27					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AACTCCATGGGAAATTTTGTT	0.483000														20			14		0	0	0.001855	0	0
OR2T1	26696	broad.mit.edu	37	1	248569331	248569331	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248569331C>T	uc010pzm.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ATGTTTTCTTCCCACTTTTAA	0.294000														39			29		0	0	0.008361	0	0
POU2F2	5452	broad.mit.edu	37	19	42603707	42603707	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:42603707G>A	uc002osp.3	-	6	535	c.473C>T	c.(472-474)tCc>tTc	p.S158F	POU2F2_uc002osn.3_Missense_Mutation_p.S158F|POU2F2_uc002osq.3_Missense_Mutation_p.S158F|POU2F2_uc002osr.2_Missense_Mutation_p.S158F	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	158					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCGGGGCTGGGAGGTCAGAAG	0.602000														24			9		0	0	0.010729	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323836	79323836	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:79323836C>T	uc010mpk.3	-	7	3478	c.3354G>A	c.(3352-3354)gtG>gtA	p.V1118V	PRUNE2_uc022bih.1_Silent_p.V940V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1118					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCTCCAAAATCACTCTGTTCC	0.517000														68			37		0	0	0.007835	0	0
KRT74	121391	broad.mit.edu	37	12	52963665	52963665	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:52963665T>C	uc001sap.1	-	5	1160	c.1112A>G	c.(1111-1113)gAg>gGg	p.E371G		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	371	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATTCCCGATCTCACACCGGAT	0.607000														23			17		0	0	0.007413	0	0
NPAS3	64067	broad.mit.edu	37	14	34266709	34266709	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:34266709C>G	uc001wru.3	+	10	1412	c.1348C>G	c.(1348-1350)Cat>Gat	p.H450D	NPAS3_uc001wrs.3_Missense_Mutation_p.H437D|NPAS3_uc001wrv.3_Missense_Mutation_p.H420D|NPAS3_uc001wrt.3_Missense_Mutation_p.H418D	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ACAGCTCCCCCATCTGCCGGA	0.507000														40			13		0	0	0.002450	0	0
TRIM61	391712	broad.mit.edu	37	4	165890999	165890999	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:165890999G>A	uc003iqw.3	-	2	767	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	Homo sapiens tripartite motif containing 61 (TRIM61), mRNA.	52						intracellular	zinc ion binding	p.P52L(1)		NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		AAAAGGGGCAGGGGAAACTAT	0.453000														10			22		0	0	0.014323	0	0
NLRP13	126204	broad.mit.edu	37	19	56443625	56443625	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:56443625A>C	uc010ygg.2	-	0	78	c.53T>G	c.(52-54)cTg>cGg	p.L18R		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	18	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGGTAAGGCAGAAGCCCTTG	0.532000														25			10		0	0	0.013537	0	0
ATP2B2	491	broad.mit.edu	37	3	10391802	10391802	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:10391802C>T	uc003bvt.3	-	15	2837	c.2398G>A	c.(2398-2400)Gtt>Att	p.V800I	ATP2B2_uc003bvv.3_Missense_Mutation_p.V755I|ATP2B2_uc003bvw.3_Missense_Mutation_p.V755I|ATP2B2_uc010hdo.3_Missense_Mutation_p.V505I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	800					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTACCTTTAACCAGGGTATGC	0.597000														21			6		0	0	0.003080	0	0
AGXT	189	broad.mit.edu	37	2	241808652	241808652	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:241808652C>T	uc002waa.4	+	1	352	c.231C>T	c.(229-231)gtC>gtT	p.V77V	AGXT_uc010zoi.1_Silent_p.V77V	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	77					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	p.L76M(1)		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)	TCACACTGGTCATCTCTGGCT	0.607000														36			20		0	0	0.002780	0	0
CDCA2	157313	broad.mit.edu	37	8	25346122	25346122	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:25346122C>T	uc003xep.1	+	12	2065	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Nonsense_Mutation_p.Q530*|CDCA2_uc003xeq.1_Nonsense_Mutation_p.Q515*|CDCA2_uc003xer.1_Nonsense_Mutation_p.Q193*	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	530					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TACAGAAGTTCAGCCTTGTAA	0.348000														48			15		0	0	0.004007	0	0
DONSON	29980	broad.mit.edu	37	21	34951847	34951847	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:34951847T>C	uc002ysk.3	-	8	1692	c.1372A>G	c.(1372-1374)Aca>Gca	p.T458A	DONSON_uc002ysi.1_Missense_Mutation_p.T218A|DONSON_uc002ysj.3_Missense_Mutation_p.T91A|DONSON_uc002ysm.3_Missense_Mutation_p.T458A	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	Homo sapiens downstream neighbor of SON (DONSON), mRNA.	458					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AGAGCTTGTGTCTTCACATTC	0.378000														23			15		0	0	0.004007	0	0
DENND4A	10260	broad.mit.edu	37	15	65962215	65962216	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:65962215_65962216GG>AA	uc002api.3	-	26	5070_5071	c.4685_4686CC>TT	c.(4684-4686)tcc>tTT	p.S1562F	DENND4A_uc002aph.3_Missense_Mutation_p.S1519F	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTGAAATGGAGGATGGAAAGTG	0.386000														19			22		0	0	0.004672	0	0
C19orf55	148137	broad.mit.edu	37	19	36256056	36256056	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:36256056G>A	uc021usz.1	+	6	821	c.748G>A	c.(748-750)Ggc>Agc	p.G250S		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	250										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGCAAGGGCCTTGGCCC	0.617000														18			12		0	0	0.010729	0	0
CNTN5	53942	broad.mit.edu	37	11	100170080	100170080	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:100170080G>A	uc001pga.3	+	19	3076	c.2572G>A	c.(2572-2574)Gga>Aga	p.G858R	CNTN5_uc001pfz.3_Missense_Mutation_p.G858R|CNTN5_uc021qpb.1_Missense_Mutation_p.G858R|CNTN5_uc021qpc.1_Missense_Mutation_p.G784R|CNTN5_uc010ruk.2_Missense_Mutation_p.G129R	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	858	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TAACAATAAAGGAGATGGGCC	0.348000														51			14		0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13891126	13891126	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:13891126C>T	uc003jfd.2	-	16	2578	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	846	Stem (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)					AGTGGCTCCTCCTGGGGAAGC	0.413000									Kartagener syndrome					99			94		0	0	0.014410	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745846	96745846	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:96745846C>T	uc001kka.4	+	7	1231	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	CYP2C9_uc009xut.3_Silent_p.P400P	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	402					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.P402S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AAGAATTTCCCAACCCAGAGA	0.373000														26			38		0	0	0.006230	0	0
C16orf90	646174	broad.mit.edu	37	16	3545419	3545419	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:3545419C>T	uc002cvi.3	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	Homo sapiens chromosome 16 open reading frame 90 (C16orf90), mRNA.	0										large_intestine(1)	1						CCAAGGCTTCCATGGAGGGCC	0.617000														12			4		0	0	0.009096	0	0
ABCA6	23460	broad.mit.edu	37	17	67129904	67129904	+	Silent	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:67129904A>G	uc002jhw.1	-	5	844	c.669T>C	c.(667-669)ttT>ttC	p.F223F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	223					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGAATAAAATAAACATCTCAT	0.318000														35			10		0	0	0.010729	0	0
GAMT	2593	broad.mit.edu	37	19	1398961	1398961	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:1398961C>T	uc002lsj.3	-	4	601	c.524G>A	c.(523-525)gGg>gAg	p.G175E	AK126693_uc002lsi.1_5'Flank|GAMT_uc002lsk.3_Missense_Mutation_p.G175E	NM_000156	NP_000147	Q14353	GAMT_HUMAN	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	175					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)	CATCAGCTCCCCCCAGGAGGT	0.607000														25			14		0	0	0.003163	0	0
ATG2A	23130	broad.mit.edu	37	11	64677197	64677197	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:64677197G>A	uc001obx.3	-	13	2178	c.2063C>T	c.(2062-2064)cCc>cTc	p.P688L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	688							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGGACTGGGGGACCAGGCCC	0.667000														23			5		0	0	0.001168	0	0
MYH15	22989	broad.mit.edu	37	3	108135721	108135721	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:108135721C>T	uc003dxa.1	-	29	4003	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1316						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1315M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGCTCTTTTCCCTGGAAAGT	0.418000														37			21		0	0	0.010504	0	0
DNAH8	1769	broad.mit.edu	37	6	38754570	38754570	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:38754570C>T	uc021yzh.1	+	17	2534	c.2425C>T	c.(2425-2427)Cca>Tca	p.P809S	DNAH8_uc003ooe.2_Missense_Mutation_p.P592S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						TGTGCGACATCCAGAAACAGG	0.358000														35			7		0	0	0.003080	0	0
CALD1	800	broad.mit.edu	37	7	134625950	134625950	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:134625950C>T	uc003vrz.3	+	6	1960	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	CALD1_uc003vry.3_Silent_p.F243F|CALD1_uc003vsb.3_Silent_p.F243F|CALD1_uc011kpt.2_Silent_p.F17F|CALD1_uc010lmm.3_Silent_p.F269F|CALD1_uc003vsc.3_Silent_p.F263F|CALD1_uc003vsd.3_Silent_p.F237F|CALD1_uc011kpu.2_Silent_p.F248F|CALD1_uc011kpv.2_Silent_p.F107F|CALD1_uc003vse.3_Silent_p.F362F	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	498					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.F498L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATGGAGAATTCATGACCCACA	0.328000														17			24		0	0	0.003954	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229697	140229697	+	Missense_Mutation	SNP	C	G	G	rs141845549		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140229697C>G	uc003lhu.2	+	0	2341	c.1617C>G	c.(1615-1617)gaC>gaG	p.D539E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.D539E	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	553	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGCGACGCGGGCGTGC	0.672000														48			44		0	0	0.014410	0	0
NRXN3	9369	broad.mit.edu	37	14	79432697	79432697	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:79432697C>T	uc001xun.3	+	8	2097	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.L661F	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	127					angiogenesis|cell adhesion	integral to membrane		p.L536I(2)		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)		TGGCTTCATTCTCTTCAATAG	0.473000														40			23		0	0	0.014323	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877292	24877293	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:24877292_24877293GG>AA	uc001wpf.4	+	2	734_735	c.416_417GG>AA	c.(415-417)ggg>gAA	p.G139E		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	139					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GAGCTGGTGGGGCGACTGCGCT	0.683000														9			6		0	0	0.004672	0	0
TMEM61	199964	broad.mit.edu	37	1	55451846	55451846	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:55451846G>A	uc001cyd.3	+	1	366	c.92G>A	c.(91-93)gGg>gAg	p.G31E		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	31						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CTGGTGGCCGGGACGCTCTGC	0.657000														21			30		0	0	0.009535	0	0
PDE10A	10846	broad.mit.edu	37	6	165832235	165832235	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:165832235G>A	uc003qun.3	-	11	1101	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R216C|PDE10A_uc003quo.3_Missense_Mutation_p.R296C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	286	Allosteric effector binding.|GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGCGCACAACGATCGGCATTC	0.373000														9			14		0	0	0.004007	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363294	105363294	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:105363294G>A	uc010qqu.1	-	11	1493	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.P368S|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.P410S|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.P368S|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.P533S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	561	SH3 3.				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)		CCGAATGCAGGGATGTCATAC	0.677000														10			14		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9066772	9066772	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9066772C>T	uc002mkp.3	-	2	20878	c.20674G>A	c.(20674-20676)Gaa>Aaa	p.E6892K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6894	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTGGTTTCCACATTAGTC	0.488000														100			38		0	0	0.006230	0	0
ALPP	250	broad.mit.edu	37	2	233244608	233244608	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:233244608G>A	uc002vsq.3	+	4	784	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	207						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGGTGCCAGGACATCGCTAC	0.682000														41			17		0	0	0.007413	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422009	1422009	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:1422009G>A	uc003jck.3	-	4	900	c.774C>T	c.(772-774)ggC>ggT	p.G258G		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	258					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.G258C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGTCTTCACGCCCTTCCAGA	0.637000														67			41		0	0	0.011902	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	111766	111766	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrGL000209.1:111766A>C	uc002qtt.2	+	5	790	c.761A>C	c.(760-762)aAa>aCa	p.K254T	KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Missense_Mutation_p.K254T|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.K254T	NM_012313	NP_036445	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA.	254					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCAGTGGTCAAACTCCCTTTC	0.483000														151			41		0	0	0.010771	0	0
FSIP2	401024	broad.mit.edu	37	2	186670672	186670672	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:186670672A>C	uc002upl.3	+	16	16906	c.16906A>C	c.(16906-16908)Agt>Cgt	p.S5636R	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CACTGTGAAAAGTAAAGATAC	0.289000														58			41		0	0	0.007835	0	0
LIMA1	51474	broad.mit.edu	37	12	50615941	50615941	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:50615941G>A	uc001rwj.4	-	3	667	c.493C>T	c.(493-495)Cta>Tta	p.L165L	LIMA1_uc001rwh.4_Silent_p.L5L|LIMA1_uc001rwi.4_Silent_p.L5L|LIMA1_uc001rwk.4_Silent_p.L165L|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	165					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GATTCTCCTAGACAATTTTCC	0.418000														64			18		0	0	0.004990	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554534	140554534	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:140554534C>T	uc003lit.3	+	0	2292	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	706					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F706F(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.692000														105			48		0	0	0.014410	0	0
CCDC88A	55704	broad.mit.edu	37	2	55566693	55566693	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:55566693G>A	uc002ryv.2	-	12	2267	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	CCDC88A_uc010ypa.1_Silent_p.T475T|CCDC88A_uc010yoz.1_Silent_p.T475T|CCDC88A_uc010ypb.1_Silent_p.T377T	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	475					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTCTTCTACGGTTTTTGTCA	0.378000														42			15		0	0	0.002450	0	0
CAPN2	824	broad.mit.edu	37	1	223939704	223939704	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:223939704C>T	uc001hob.4	+	7	1129	c.905C>T	c.(904-906)cCa>cTa	p.P302L	CAPN2_uc010puy.2_Missense_Mutation_p.P224L	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	302	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TCCAGCTGCCCAAGCTGGAAC	0.507000														22			16		0	0	0.004007	0	0
GAGE10	643832	broad.mit.edu	37	X	49173756	49173756	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:49173756G>A	uc010nir.1	+	3	433	c.317G>A	c.(316-318)aGg>aAg	p.R106K		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	Homo sapiens G antigen 10 (GAGE10), mRNA.	106										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GAGGTGAAAAGGCCTGAAGAA	0.473000														40			80		0	0	0.014410	0	0
PBX1	5087	broad.mit.edu	37	1	164769100	164769100	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:164769100C>T	uc001gct.3	+	3	1138	c.675C>T	c.(673-675)atC>atT	p.I225I	PBX1_uc010pku.2_Silent_p.I225I|PBX1_uc001gcs.3_Silent_p.I225I|PBX1_uc010pkv.2_Silent_p.I142I|PBX1_uc010pkw.1_Silent_p.I115I	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	225					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CGGTGATGATCCTGCGTTCCC	0.612000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									23			12		0	0	0.010729	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45499524	45499524	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:45499524C>T	uc002zea.3	+	11	1718	c.1549C>T	c.(1549-1551)Ccc>Tcc	p.P517S	TRAPPC10_uc010gpo.3_Missense_Mutation_p.P228S	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	517					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTGGGCACTCCCCATCACACA	0.428000														16			8		0	0	0.004482	0	0
TREML1	340205	broad.mit.edu	37	6	41117417	41117417	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:41117417C>T	uc011duc.2	-	5	905	c.861G>A	c.(859-861)ccG>ccA	p.P287P	TREML1_uc003opx.3_3'UTR|TREML1_uc011dud.2_Silent_p.P176P	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	287					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTTCCCTCCCGGGAAGATTA	0.537000														34			28		0	0	0.007291	0	0
TNR	7143	broad.mit.edu	37	1	175304902	175304902	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:175304902C>T	uc001gkp.1	-	17	3657	c.3576G>A	c.(3574-3576)cgG>cgA	p.R1192R	TNR_uc009wwu.1_Silent_p.R1192R	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1192	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGCCCATTTCCGGAAAAAAT	0.418000														61			35		0	0	0.004878	0	0
NOS1	4842	broad.mit.edu	37	12	117665423	117665423	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:117665423C>T	uc001twn.2	-	23	4242	c.3531G>A	c.(3529-3531)tgG>tgA	p.W1177*	NOS1_uc021ren.1_Nonsense_Mutation_p.W807*|NOS1_uc021reo.1_Nonsense_Mutation_p.W807*|NOS1_uc001twm.2_Nonsense_Mutation_p.W1143*	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1143	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCCCCATTTCCATTCCTCGT	0.592000														17			17		0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179500945	179500945	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:179500945T>C	uc021vsy.1	-	174	33874	c.33649A>G	c.(33649-33651)Aca>Gca	p.T11217A	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T4912A|TTN_uc021vta.1_Missense_Mutation_p.T4845A|TTN_uc021vtb.1_Missense_Mutation_p.T4720A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12144	Glu-rich.|Pro-rich.						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)			TCTTCCAGTGTTTTTACAAAA	0.373000														11			12		0	0	0.013537	0	0
ZNF33A	7581	broad.mit.edu	37	10	38305931	38305931	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:38305931C>T	uc010qev.2	+	1	267	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F	ZNF33A_uc001izg.3_Missense_Mutation_p.L48F|ZNF33A_uc001izh.3_Missense_Mutation_p.L48F|ZNF33A_uc001izi.1_Missense_Mutation_p.L48F|ZNF33A_uc021ppe.1_Missense_Mutation_p.L48F|ZNF33A_uc001izj.3_Non-coding_Transcript	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	48	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTACAGCAACCTTGTCTCAGT	0.438000														18			36		0	0	0.010771	0	0
AGAP11	119385	broad.mit.edu	37	10	88768349	88768350	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:88768349_88768350AC>TT	uc001kee.2	+	11	1544_1545	c.340_341AC>TT	c.(340-342)acc>TTc	p.T114F	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	114					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TCACGCTGACACCATCGGGAGC	0.520000														59			130		0	0	0.004672	0	0
CHERP	10523	broad.mit.edu	37	19	16640618	16640618	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:16640618A>G	uc002nei.1	-	7	1044	c.970T>C	c.(970-972)Ttt>Ctt	p.F324L	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	324	Gln-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CTGGTGACAAACTCCTCGTGC	0.627000														17			8		0	0	0.013537	0	0
SORL1	6653	broad.mit.edu	37	11	121393401	121393401	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:121393401T>C	uc001pxx.3	+	9	1640	c.1511T>C	c.(1510-1512)aTc>aCc	p.I504T		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	504					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCAGGCCTCATCATCGCCACT	0.582000														71			17		0	0	0.004990	0	0
DSG1	1828	broad.mit.edu	37	18	28934829	28934829	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:28934829G>A	uc002kwp.3	+	14	2882	c.2670G>A	c.(2668-2670)tcG>tcA	p.S890S	DSG1_uc010xbp.2_Silent_p.S249S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	890					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAGATGGGTCGAATGTTATAG	0.483000														23			59		0	0	0.014410	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215876	20215876	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20215876G>A	uc010tkt.2	+	0	290	c.290G>A	c.(289-291)gGa>gAa	p.G97E		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTTTCAGGATGCCTGGCC	0.473000														35			5		0	0	0.000602	0	0
TOX2	84969	broad.mit.edu	37	20	42695394	42695394	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:42695394C>T	uc010ggo.3	+	7	1421	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S	TOX2_uc002xle.4_Missense_Mutation_p.P419S|TOX2_uc010ggp.3_Missense_Mutation_p.P419S|TOX2_uc002xlf.4_Missense_Mutation_p.P443S|TOX2_uc010zwk.2_Missense_Mutation_p.P339S	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	443					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)			CTCTGAGTTCCCCAGCAGCTC	0.647000														43			24		0	0	0.005443	0	0
RAC1	5879	broad.mit.edu	37	7	6426906	6426906	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:6426906C>T	uc003spx.3	+	1	340	c.99C>T	c.(97-99)atC>atT	p.I33I	RAC1_uc003spw.3_Silent_p.I33I|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	33					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGAATATATCCCTACTGTGT	0.358000														50			49		0	0	0.014410	0	0
EPHB2	2048	broad.mit.edu	37	1	23208887	23208887	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:23208887C>T	uc009vqj.1	+	5	1484	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	EPHB2_uc001bge.3_Missense_Mutation_p.R447C|EPHB2_uc001bgf.3_Missense_Mutation_p.R447C|EPHB2_uc010odu.2_Missense_Mutation_p.R447C	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	447	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCAGGTGAGCCGCACCGTGGA	0.587000														40			9		0	0	0.006214	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700961	94700961	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:94700961G>A	uc001ycs.1	+	6	840	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	229						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.R229*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TATGAAGTTCGATCTTGTATG	0.388000														16			9		0	0	0.010729	0	0
FAM50A	9130	broad.mit.edu	37	X	153678387	153678387	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:153678387C>T	uc004fll.4	+	10	950	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_004699	NP_004690	Q14320	FA50A_HUMAN	Homo sapiens family with sequence similarity 50, member A (FAM50A), mRNA.	280					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	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)					GACCACTCTTCAACTTTGATG	0.622000											OREG0003609	type=REGULATORY REGION|Gene=FAM50A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		17			17		0	0	0.004007	0	0
WWP2	11060	broad.mit.edu	37	16	69965107	69965107	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:69965107C>T	uc002exu.1	+	14	1587	c.1498C>T	c.(1498-1500)Cac>Tac	p.H500Y	WWP2_uc002exv.1_Missense_Mutation_p.H500Y|WWP2_uc010vlm.1_Missense_Mutation_p.H384Y|WWP2_uc010vln.1_Missense_Mutation_p.H118Y|WWP2_uc002exw.1_Missense_Mutation_p.H61Y|MIR140_uc002exx.1_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	500					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGAAGTATCACCAGTTCCG	0.507000														46			18		0	0	0.010504	0	0
ADAM28	10863	broad.mit.edu	37	8	24181448	24181448	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:24181448G>A	uc003xdy.3	+	8	905	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ADAM28_uc003xdx.3_Silent_p.E274E|ADAM28_uc011kzz.2_Silent_p.E41E|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	274	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E274D(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCACCTTGGAGAATTTTTCTA	0.383000														41			22		0	0	0.002780	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048095	58048095	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:58048095C>T	uc021rtp.1	-	3	690	c.641G>A	c.(640-642)aGa>aAa	p.R214K	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Missense_Mutation_p.R92K	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGAGCAGTTCTTTTAAGAAA	0.413000														9			5		0	0	0.003080	0	0
OR7D2	162998	broad.mit.edu	37	19	9296779	9296779	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:9296779C>T	uc002mkz.1	+	0	510	c.322C>T	c.(322-324)Cct>Tct	p.P108S		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	108					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CATGTTTTTTCCTATTCTGGA	0.512000														84			22		0	0	0.004656	0	0
MTHFSD	64779	broad.mit.edu	37	16	86565627	86565627	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:86565627C>T	uc002fjn.3	-	7	1193	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K	MTHFSD_uc002fjm.3_Missense_Mutation_p.R380K|MTHFSD_uc010voo.2_Missense_Mutation_p.R361K|MTHFSD_uc010vop.2_Missense_Mutation_p.R218K|MTHFSD_uc010voq.2_Missense_Mutation_p.R380K|MTHFSD_uc010vor.2_Missense_Mutation_p.R381K|MTHFSD_uc002fjo.3_Missense_Mutation_p.R218K	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	381					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TCACTTGTCCCTCTGCTGCCT	0.697000														0			5		0	0	0.001168	0	0
NBPF1	55672	broad.mit.edu	37	1	16892226	16892226	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:16892226G>A	uc009vos.1	-	26	3854	c.2966C>T	c.(2965-2967)cCt>cTt	p.P989L	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	989	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACAACTGGAAGGAGTTGAATA	0.473000														678			47		0	0	0.014410	0	0
NTHL1	4913	broad.mit.edu	37	16	2097828	2097828	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:2097828G>A	uc002col.1	-	0	40	c.21C>T	c.(19-21)tcC>tcT	p.S7S	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010uvu.1_5'Flank|TSC2_uc002con.3_5'Flank|TSC2_uc010bsd.3_5'Flank|TSC2_uc002coo.3_5'Flank|TSC2_uc010uvv.2_5'Flank|TSC2_uc010uvw.2_5'Flank|TSC2_uc002cop.3_5'Flank	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	7					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CGGTCATGCCGGACTCCTGCG	0.711000								Base excision repair (BER), DNA glycosylases						3			3		0	0	0.004672	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293629	71293629	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:71293629G>A	uc001oqu.3	-	0	293	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	85	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.S85F(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACAGCAGTTGGACTGGGAGC	0.622000														43			10		0	0	0.006214	0	0
LTN1	26046	broad.mit.edu	37	21	30316752	30316752	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:30316752G>A	uc002ymr.2	-	21	4086	c.4073C>T	c.(4072-4074)tCc>tTc	p.S1358F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1312							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GATGCCTTGGGAAAAAAATTC	0.383000														46			28		0	0	0.009535	0	0
OR10R2	343406	broad.mit.edu	37	1	158450327	158450327	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:158450327C>T	uc010pik.2	+	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTGTGATATTCATTTGTGGAG	0.408000														86			42		0	0	0.009718	0	0
PRG3	10394	broad.mit.edu	37	11	57147108	57147108	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:57147108G>A	uc001njv.2	-	2	344	c.234C>T	c.(232-234)gcC>gcT	p.A78A		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	78					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CCGACTCCATGGCTTCCTCAT	0.552000														58			19		0	0	0.010504	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535361	166535361	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:166535361C>T	uc002udf.3	+	6	1232	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	CSRNP3_uc002udg.3_Missense_Mutation_p.P286S	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	286					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCAGCAAATCCCCACGCTGAA	0.448000														29			26		0	0	0.004656	0	0
HOMER2	9455	broad.mit.edu	37	15	83561583	83561583	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:83561583T>C	uc002bjg.3	-	1	205	c.16A>G	c.(16-18)Atc>Gtc	p.I6V	HOMER2_uc002bjh.3_Missense_Mutation_p.I6V	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	6	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GTGGTGAAGATGGGCTGTTCT	0.478000														33			31		0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179647676	179647676	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:179647676G>A	uc021vsy.1	-	17	3182	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F	TTN_uc021vsz.1_Missense_Mutation_p.S940F|TTN_uc021vta.1_Missense_Mutation_p.S940F|TTN_uc021vtb.1_Missense_Mutation_p.S940F|TTN_uc002unb.2_Missense_Mutation_p.S986F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	986	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V986M(1)		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)			GAAGTCAATGGAACTTTCGAT	0.473000														39			23		0	0	0.004656	0	0
NTRK3	4916	broad.mit.edu	37	15	88476251	88476251	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:88476251C>T	uc002bme.2	-	15	2187	c.1881G>A	c.(1879-1881)aaG>aaA	p.K627K	NTRK3_uc002bmh.2_Silent_p.K619K|NTRK3_uc002bmf.2_Silent_p.K627K|NTRK3_uc021sua.1_Silent_p.K619K|NTRK3_uc010upl.1_Silent_p.K529K|NTRK3_uc010bnh.1_Silent_p.K619K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	627	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCTGAGGAACTTATTCAGGT	0.517000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				15			14		0	0	0.004007	0	0
C14orf126	112487	broad.mit.edu	37	14	31926593	31926593	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:31926593C>T	uc001wrj.3	-	0	88	c.7G>A	c.(7-9)Gag>Aag	p.E3K	HEATR5A_uc010tpk.1_5'UTR	NM_080664	NP_542395	Q96FN9	DTD2_HUMAN	Homo sapiens chromosome 14 open reading frame 126 (C14orf126), mRNA.	3					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	8	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0113)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00888)		CGGCTACCCTCAGCCATGGCT	0.706000														4			4		0	0	0.009096	0	0
DNAH5	1767	broad.mit.edu	37	5	13737376	13737376	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:13737376C>T	uc003jfd.2	-	65	11482	c.11440G>A	c.(11440-11442)Gag>Aag	p.E3814K	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3814					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3813Q(1)		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)					CTGTATTCCTCCCGGGCTGAG	0.428000									Kartagener syndrome					28			87		0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141758058	141758058	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:141758058G>T	uc003vwy.3	+	30	3803	c.3749G>T	c.(3748-3750)cGc>cTc	p.R1250L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1250	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGCTGTGTCGCTATGGCTAC	0.483000														185			44		3.39706e-21	5.53793e-21	0.014410	1	0
WBSCR28	135886	broad.mit.edu	37	7	73279336	73279336	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:73279336G>A	uc003tzk.2	+	1	122	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	29						integral to membrane		p.R29I(2)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GTTCAGAACCGAGATCACCTC	0.512000														270			63		0	0	0.014410	0	0
C2orf78	388960	broad.mit.edu	37	2	74042413	74042413	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:74042413G>A	uc002sjr.1	+	2	1184	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	355										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCAAGCCAGGAAAAAAATGA	0.428000														31			17		0	0	0.010504	0	0
OR51A4	401666	broad.mit.edu	37	11	4967515	4967515	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:4967515G>A	uc010qys.2	-	0	816	c.816C>T	c.(814-816)ctC>ctT	p.L272L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAACATTAATGAGGGGAGAGA	0.443000														144			31		0	0	0.010818	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265727	32265727	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:32265727G>A	uc001bts.1	-	4	1676	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	SPOCD1_uc001btu.3_Missense_Mutation_p.P540S|SPOCD1_uc001btv.3_Missense_Mutation_p.P33S|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	540					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTCCTGAAGGAGAAGGCTGG	0.642000														5			9		0	0	0.004482	0	0
ALDOC	230	broad.mit.edu	37	17	26901211	26901211	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:26901211C>T	uc002hbp.3	-	6	818	c.673G>A	c.(673-675)Gag>Aag	p.E225K	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank	NM_005165	NP_005156	P09972	ALDOC_HUMAN	Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.	225					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AGGGTCCCCTCCAGGTATACA	0.582000														46			54		0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152496875	152496875	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:152496875C>T	uc021vrb.1	-	58	8708	c.8679G>A	c.(8677-8679)caG>caA	p.Q2893Q	NEB_uc002txu.3_Silent_p.Q2893Q|NEB_uc021vrc.1_Silent_p.Q2893Q|NEB_uc010fnx.3_Silent_p.Q2893Q|NEB_uc021vrd.1_Silent_p.Q2893Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2893					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACATCGCTCTGGAGGTCAT	0.517000														52			20		0	0	0.010504	0	0
ZNF643	65243	broad.mit.edu	37	1	40928144	40928144	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:40928144C>T	uc001cfn.2	+	4	785	c.488C>T	c.(487-489)tCg>tTg	p.S163L	ZNF643_uc001cfl.2_Missense_Mutation_p.S61L|ZNF643_uc001cfm.2_Missense_Mutation_p.S29L	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S61L(2)		large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			AATGATATTTCGTGGGAAGAA	0.338000														102			103		0	0	0.014410	0	0
RFX4	5992	broad.mit.edu	37	12	107080830	107080830	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:107080830C>T	uc001tlt.3	+	5	713	c.573C>T	c.(571-573)ccC>ccT	p.P191P	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.P182P|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Silent_p.P191P|RFX4_uc001tlv.3_Silent_p.P88P|LOC100505978_uc001tlu.3_5'Flank	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	182					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAGAATTTCCCAATGTCAAAG	0.502000														47			38		0	0	0.008740	0	0
CNTN2	6900	broad.mit.edu	37	1	205028341	205028341	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:205028341C>T	uc001hbr.3	+	5	886	c.617C>T	c.(616-618)tCc>tTc	p.S206F	CNTN2_uc001hbq.1_Missense_Mutation_p.S97F|CNTN2_uc009xbi.3_Missense_Mutation_p.S97F|CNTN2_uc001hbs.3_5'UTR	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	206	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCAACTACTCCTGTTTGGCC	0.582000														18			8		0	0	0.004482	0	0
BUD13	84811	broad.mit.edu	37	11	116633303	116633303	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:116633303G>A	uc001ppn.3	-	3	1036	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Silent_p.S334S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	334										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCCAAAATGGGATTTTGCTT	0.448000														262			82		0	0	0.014410	0	0
SACS	26278	broad.mit.edu	37	13	23928011	23928011	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:23928011G>A	uc001uon.2	-	8	2687	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	SACS_uc001uoo.2_Missense_Mutation_p.L553F|SACS_uc001uop.1_Missense_Mutation_p.L487F|SACS_uc001uoq.1_Missense_Mutation_p.L553F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	700					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTGGGAAAAGGGACCTGAAA	0.373000														30			22		0	0	0.003330	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486512	133486512	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:133486512G>A	uc002ttp.3	-	17	5831	c.5457C>T	c.(5455-5457)tcC>tcT	p.S1819S	NCKAP5_uc002ttq.3_Silent_p.S500S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1819							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTGCTTTTGGGAACTGACTT	0.478000														155			84		0	0	0.014410	0	0
ZNF592	9640	broad.mit.edu	37	15	85326156	85326156	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:85326156G>A	uc002bld.3	+	3	586	c.250G>A	c.(250-252)Gac>Aac	p.D84N	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	84					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCGGAGAAAGACCACATTAC	0.512000														37			14		0	0	0.002450	0	0
OR4M1	441670	broad.mit.edu	37	14	20248826	20248826	+	Silent	SNP	C	T	T	rs138166254		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:20248826C>T	uc010tku.2	+	0	345	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTCTTGCTCACAGTGATGG	0.488000														151			23		0	0	0.014323	0	0
PCNXL2	80003	broad.mit.edu	37	1	233225830	233225830	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:233225830C>T	uc001hvl.2	-	22	4288	c.4053G>A	c.(4051-4053)gtG>gtA	p.V1351V	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1351						integral to membrane		p.V1351L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCAGAATTTCACTGGCCTGA	0.423000														23			9		0	0	0.010729	0	0
ARHGAP6	395	broad.mit.edu	37	X	11174717	11174717	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:11174717C>T	uc004cup.1	-	9	2712	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.L613L|ARHGAP6_uc004cum.1_Silent_p.L410L|ARHGAP6_uc004cun.1_Silent_p.L433L|ARHGAP6_uc010neb.1_Silent_p.L435L|ARHGAP6_uc011mif.1_Silent_p.L410L	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	613					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACAGGCTGATCAGCACTTCGT	0.448000														4			20		0	0	0.002780	0	0
AQR	9716	broad.mit.edu	37	15	35202393	35202393	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:35202393G>A	uc001ziv.3	-	16	1787	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	536						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACATCTGCACGAACTCGGGTT	0.448000														74			30		0	0	0.010818	0	0
OR1J4	26219	broad.mit.edu	37	9	125281783	125281783	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:125281783C>T	uc011lyw.2	+	0	364	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GGCATACGATCGGTATGTGGC	0.433000														58			34		0	0	0.012213	0	0
ACVR1C	130399	broad.mit.edu	37	2	158412824	158412824	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:158412824G>A	uc002tzk.4	-	2	568	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	ACVR1C_uc002tzl.4_Intron|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Missense_Mutation_p.L59F	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	109					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|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						ATGGGTCCAAGTTTTGGGGCA	0.438000														36			17		0	0	0.008871	0	0
CUL7	9820	broad.mit.edu	37	6	43019484	43019484	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:43019484G>A	uc003otq.3	-	2	930	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F	CUL7_uc011dvb.2_Missense_Mutation_p.L284F|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	200					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTGACAGAAGGATCTGAGTC	0.498000														40			40		0	0	0.010771	0	0
UBXN10	127733	broad.mit.edu	37	1	20517366	20517366	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:20517366C>T	uc001bdb.3	+	1	396	c.312C>T	c.(310-312)ccC>ccT	p.P104P	UBXN10_uc021oia.1_Silent_p.P104P	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	104										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGCAAGTACCCACTGGGGCTT	0.522000														39			46		0	0	0.014410	0	0
PSG3	5671	broad.mit.edu	37	19	43237165	43237165	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:43237165C>T	uc002oue.3	-	2	612	c.480G>A	c.(478-480)gaG>gaA	p.E160E	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	160	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCTCCATGTCCTCCCTGGGGT	0.542000														97			50		0	0	0.014410	0	0
DNAH2	146754	broad.mit.edu	37	17	7662210	7662210	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:7662210T>G	uc002giu.1	+	13	2230	c.2216T>G	c.(2215-2217)aTg>aGg	p.M739R		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	739	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TAGGTGCAGATGATTGTGAAT	0.537000														21			6		0	0	0.001168	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028047	45028047	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:45028047C>T	uc010ejn.1	-	2	460	c.444G>A	c.(442-444)agG>agA	p.R148R	CEACAM20_uc010ejo.1_Silent_p.R148R|CEACAM20_uc010ejp.1_Silent_p.R148R|CEACAM20_uc010ejq.1_Silent_p.R148R	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	148	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGGGGTCGCTCCTCTGGCTCA	0.537000														107			79		0	0	0.014410	0	0
PGM5P2	595135	broad.mit.edu	37	9	69127002	69127002	+	RNA	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:69127002C>T	uc004aff.4	-	1		c.565G>A								Homo sapiens phosphoglucomutase 5 pseudogene 2 (PGM5P2), non-coding RNA.																		CCAAACTCTCCCCCTGGTCCT	0.453000														9			6		0	0	0.004482	0	0
PLOD3	8985	broad.mit.edu	37	7	100856396	100856396	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100856396G>A	uc003uyd.3	-	6	1225	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	257					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.G256D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACCTTAGTGGGACCGTTTCCA	0.602000														24			5		0	0	0.001984	0	0
TCR-alpha	0	broad.mit.edu	37	14	22433750	22433750	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:22433750G>A	uc021rpm.1	+	0	53	c.15G>A	c.(13-15)ttG>ttA	p.L5L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		TGAAATCCTTGAGAGTTTTAC	0.353000														28			14		0	0	0.003163	0	0
ACOX1	51	broad.mit.edu	37	17	73945838	73945838	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:73945838G>A	uc002jqe.3	-	9	1800	c.1439C>T	c.(1438-1440)cCc>cTc	p.P480L	ACOX1_uc010wsq.2_Missense_Mutation_p.P442L|ACOX1_uc010wsr.2_Missense_Mutation_p.P412L|ACOX1_uc002jqf.3_Missense_Mutation_p.P480L	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	480					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TAGGCTTTCGGGGCTGTTGAT	0.567000														40			16		0	0	0.003163	0	0
ASXL1	171023	broad.mit.edu	37	20	31024516	31024516	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:31024516C>T	uc021wbw.1	+	12	4433	c.4001C>T	c.(4000-4002)cCc>cTc	p.P1334L	ASXL1_uc002wxs.3_Missense_Mutation_p.P1333L|ASXL1_uc010geb.3_Missense_Mutation_p.P1225L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1334					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCAGTTTTTCCCAGTGGGAAG	0.577000			"""F, N, Mis"""		"""MDS, CMML"""									24			17		0	0	0.004990	0	0
FLG	2312	broad.mit.edu	37	1	152277655	152277655	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:152277655G>A	uc001ezu.1	-	2	9743	c.9707C>T	c.(9706-9708)tCc>tTc	p.S3236F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3236	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTTTCTGGAAGCAGACCC	0.597000									Ichthyosis					122			53		0	0	0.014410	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918681	21918682	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:21918681_21918682TC>GT	uc001rff.3	-	2	1588_1589	c.1250_1251GA>AC	c.(1249-1251)gga>gAC	p.G417D		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TGTTTTGATTTCCTTCTGGAGT	0.426000														46			37		0	0	0.004672	0	0
STRA6	64220	broad.mit.edu	37	15	74476282	74476283	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:74476282_74476283GG>AA	uc002axj.3	-	13	1691_1692	c.1331_1332CC>TT	c.(1330-1332)ccc>cTT	p.P444L	STRA6_uc002axi.3_Missense_Mutation_p.P214L|STRA6_uc010ulh.2_Missense_Mutation_p.P443L|STRA6_uc002axk.3_Missense_Mutation_p.P405L|STRA6_uc002axl.3_Missense_Mutation_p.P337L|STRA6_uc010bji.3_Missense_Mutation_p.P405L|STRA6_uc021sqg.1_Missense_Mutation_p.P420L|STRA6_uc002axm.3_Missense_Mutation_p.P405L|STRA6_uc002axn.3_Missense_Mutation_p.P396L|STRA6_uc010uli.2_Missense_Mutation_p.P442L|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	405					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TCCGATGCAAGGGACTCAAGTC	0.594000														17			21		0	0	0.004672	0	0
LGR4	55366	broad.mit.edu	37	11	27390105	27390105	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:27390105G>C	uc001mrj.4	-	17	2650	c.2165C>G	c.(2164-2166)gCc>gGc	p.A722G	LGR4_uc001mrk.4_Missense_Mutation_p.A698G	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	722						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GTAGATAACGGCCATTAATAA	0.398000														45			38		0	0	0.007835	0	0
PRKG2	5593	broad.mit.edu	37	4	82125817	82125817	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:82125817G>A	uc003hmh.2	-	0	398	c.385C>T	c.(385-387)Cca>Tca	p.P129S	PRKG2_uc011cch.1_Missense_Mutation_p.P129S	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	129					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CGGGTTGTTGGCTCAGCAGAC	0.507000														58			104		0	0	0.014410	0	0
FANCA	2175	broad.mit.edu	37	16	89813022	89813022	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:89813022C>T	uc002fou.1	-	34	3525	c.3483G>A	c.(3481-3483)acG>acA	p.T1161T	FANCA_uc010vpn.1_Silent_p.T1161T|FANCA_uc010vpo.2_Silent_p.T247T	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	1161					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.T1161M(2)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGGGCATTTCGTCTGGCACT	0.562000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					25			5		0	0	0.001168	0	0
IMPG1	3617	broad.mit.edu	37	6	76660521	76660521	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:76660521G>A	uc003pik.1	-	12	1712	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	528					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)				GATGGGGCAGGAGTGTCAGAC	0.483000														13			5		0	0	0.000602	0	0
CHRM3	1131	broad.mit.edu	37	1	240071104	240071104	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:240071104G>A	uc021plc.1	+	0	353	c.353G>A	c.(352-354)gGg>gAg	p.G118E	CHRM3_uc001hyp.3_Missense_Mutation_p.G118E	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	118					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTGATTATCGGGGTCATTTCA	0.478000														24			18		0	0	0.006122	0	0
LAMB4	22798	broad.mit.edu	37	7	107692596	107692596	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:107692596C>T	uc010ljo.1	-	25	3946	c.3862G>A	c.(3862-3864)Gac>Aac	p.D1288N	LAMB4_uc003vey.2_Missense_Mutation_p.D1288N|LAMB4_uc010ljp.1_Missense_Mutation_p.D257N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1288	Domain II.				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						TCCTGAAGGTCTTCAAGTAAG	0.368000														40			52		0	0	0.014410	0	0
NLRP7	199713	broad.mit.edu	37	19	55447766	55447766	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:55447766C>T	uc002qih.4	-	5	2239	c.2163G>A	c.(2161-2163)cgG>cgA	p.R721R	NLRP7_uc010esk.3_Silent_p.R721R|NLRP7_uc002qig.4_Silent_p.R693R|NLRP7_uc002qii.4_Silent_p.R721R|NLRP7_uc010esl.3_Silent_p.R749R	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	721			R -> W (in HYDM).				ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GACAGAAGTCCCGGTACGCGG	0.507000														34			39		0	0	0.008740	0	0
SSPN	8082	broad.mit.edu	37	12	26383984	26383984	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:26383984C>T	uc001rhe.3	+	2	807	c.707C>T	c.(706-708)tCc>tTc	p.S236F	SSPN_uc001rhd.3_Missense_Mutation_p.S133F|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron	NM_005086	NP_001129295	Q14714	SSPN_HUMAN	Homo sapiens sarcospan (Kras oncogene-associated gene) (SSPN), transcript variant 1, mRNA.	236					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					CTCACGGCTTCCGAAGGCCCC	0.453000														19			7		0	0	0.003080	0	0
TMC5	79838	broad.mit.edu	37	16	19474639	19474639	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:19474639C>T	uc002dgc.4	+	6	1935	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	TMC5_uc010vaq.2_Missense_Mutation_p.R396C|TMC5_uc002dgb.4_Missense_Mutation_p.R396C|TMC5_uc010var.2_Missense_Mutation_p.R396C|TMC5_uc002dgd.1_Missense_Mutation_p.R150C|TMC5_uc002dge.4_Missense_Mutation_p.R150C|TMC5_uc002dgf.4_Missense_Mutation_p.R79C|TMC5_uc002dgg.4_Missense_Mutation_p.R37C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	396						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGACCCATCGTATCCTTCA	0.408000														22			24		0	0	0.004656	0	0
FES	2242	broad.mit.edu	37	15	91432627	91432627	+	Missense_Mutation	SNP	C	G	G	rs149847085	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:91432627C>G	uc002bpv.3	+	5	879	c.760C>G	c.(760-762)Cgc>Ggc	p.R254G	FES_uc010uqj.2_Missense_Mutation_p.R196G|FES_uc010uqk.2_Missense_Mutation_p.R236G|FES_uc002bpx.3_Missense_Mutation_p.R254G|FES_uc002bpy.3_Missense_Mutation_p.R196G|FES_uc010bny.3_Missense_Mutation_p.R196G	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	254	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGCTGCTGCCCGCATCCAGCC	0.632000														98			81		0	0	0.014410	0	0
POM121L12	285877	broad.mit.edu	37	7	53103409	53103409	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:53103409C>T	uc003tpz.3	+	0	61	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	15										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCGGGAACTTCTGGAAGGCGG	0.706000														5			4		0	0	0.009096	0	0
TNXB	7148	broad.mit.edu	37	6	32036897	32036897	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:32036897C>T	uc003nzl.2	-	15	5806	c.5604G>A	c.(5602-5604)acG>acA	p.T1868T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1950	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.T1868T(1)|p.T1955T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCAGTTTCCGTTTCTTCCC	0.627000														151			31		0	0	0.011902	0	0
TPTE	7179	broad.mit.edu	37	21	10916473	10916473	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:10916473C>T	uc002yip.1	-	19	1541	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Silent_p.K373K|TPTE_uc002yir.1_Silent_p.K353K|TPTE_uc010gkv.1_Silent_p.K253K	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	391	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CAACATATCTCTTCTGAAAAG	0.338000														38			20		0	0	0.010504	0	0
GLI2	2736	broad.mit.edu	37	2	121726354	121726354	+	Silent	SNP	C	T	T	rs142322049		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:121726354C>T	uc010flp.3	+	4	738	c.708C>T	c.(706-708)tcC>tcT	p.S236S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.P107S|GLI2_uc010flo.1_Silent_p.S111S|GLI2_uc002tmw.1_Silent_p.S236S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	236					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGTCCATCTCCCCACTCTCAG	0.637000														41			26		0	0	0.006320	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950801	209950801	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:209950801C>T	uc001hho.3	+	11	1578	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	TRAF3IP3_uc001hhm.2_Intron|TRAF3IP3_uc001hhn.3_Silent_p.D366D|TRAF3IP3_uc009xcr.3_Silent_p.D386D	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	386						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GGGACAGAGACCTGTGCAGCT	0.512000														27			10		0	0	0.008291	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:7635291G>A	uc001qsz.3	-	13	3323	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_uc001qta.3_Silent_p.F1065F|CD163_uc009zfw.2_Silent_p.F1098F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423000														58			53		0	0	0.014410	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813339	24813339	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr10:24813339C>T	uc001iru.4	+	12	2947	c.2544C>T	c.(2542-2544)gtC>gtT	p.V848V	KIAA1217_uc001irs.3_Silent_p.V768V|KIAA1217_uc001irt.4_Silent_p.V813V|KIAA1217_uc010qcy.2_Silent_p.V813V|KIAA1217_uc010qcz.2_Silent_p.V813V|KIAA1217_uc001irv.1_Silent_p.V663V|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.V531V|KIAA1217_uc001irz.3_Silent_p.V531V|KIAA1217_uc001irx.3_Silent_p.V531V|KIAA1217_uc001iry.3_Silent_p.V531V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	848					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCGCAGAAGTCCTGAAGAGTC	0.607000														8			31		0	0	0.009535	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567103	173567103	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:173567103T>A	uc001giz.2	-	3	720	c.297A>T	c.(295-297)ttA>ttT	p.L99F	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	99					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TAAATATAATTAAAGGTGAAA	0.303000														69			47		0	0	0.014410	0	0
SAMD12	401474	broad.mit.edu	37	8	119391770	119391770	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:119391770C>T	uc003yom.2	-	3	621	c.492G>A	c.(490-492)atG>atA	p.M164I	SAMD12_uc010mda.1_Intron|SAMD12_uc010mdb.1_Intron	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	164										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCTCCCCATCCATCCACCCAT	0.423000														32			31		0	0	0.009535	0	0
KLRC2	3822	broad.mit.edu	37	12	10571009	10571009	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:10571009C>T	uc001qyi.1	-	3	465	c.420G>A	c.(418-420)gaG>gaA	p.E140E	KLRC2_uc001qyf.3_Silent_p.E140E|KLRC2_uc021qvc.1_Silent_p.E140E|KLRC2_uc001qyh.3_Silent_p.E140E|KLRC2_uc021qvd.1_Silent_p.E140E	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	140	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CCTGCAAACTCTCTTCCCAAG	0.353000														89			23		0	0	0.006320	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6527632	6527632	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:6527632C>T	uc001anp.1	-	22	3741	c.3243_splice	c.e22-1	p.S1081_splice	PLEKHG5_uc001ann.1_Splice_Site_p.S1041_splice|PLEKHG5_uc001ano.1_Splice_Site_p.S1060_splice|PLEKHG5_uc001anq.1_Splice_Site_p.S850_splice|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Splice_Site_p.S565_splice|PLEKHG5_uc009vma.1_Splice_Site_p.S844_splice|PLEKHG5_uc010nzr.1_Splice_Site_p.S1073_splice|PLEKHG5_uc001ank.1_Splice_Site_p.S1004_splice|PLEKHG5_uc009vmb.1_Splice_Site|PLEKHG5_uc001anl.1_Splice_Site_p.S1004_splice|PLEKHG5_uc001anm.1_Splice_Site_p.S1004_splice	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	1060					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCAGACCTCCCTACAGGGTG	0.632000														88			22		0	0	0.004656	0	0
FAM135B	51059	broad.mit.edu	37	8	139163712	139163712	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:139163712C>T	uc003yuy.3	-	12	3177	c.3006G>A	c.(3004-3006)gaG>gaA	p.E1002E	FAM135B_uc003yux.3_Silent_p.E903E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.E564E|FAM135B_uc003yvb.3_Silent_p.E564E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1002										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGCCTTCAGCTCTTGGTTTT	0.507000										HNSCC(54;0.14)				39			15		0	0	0.002450	0	0
EPHA6	285220	broad.mit.edu	37	3	97194224	97194224	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:97194224G>A	uc010how.1	+	7	1966	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.Q7Q|EPHA6_uc003drs.4_Silent_p.Q33Q|EPHA6_uc003drr.4_Silent_p.Q33Q|EPHA6_uc003drt.3_Silent_p.Q33Q|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	546	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E641K(2)		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						AACAAGGACAGATTCTCGTGA	0.413000														12			19		0	0	0.010504	0	0
AKNA	80709	broad.mit.edu	37	9	117099518	117099518	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:117099518G>T	uc004biq.3	-	20	4271	c.4136C>A	c.(4135-4137)cCa>cAa	p.P1379Q	AKNA_uc004bin.3_Missense_Mutation_p.P626Q|AKNA_uc004bio.3_Missense_Mutation_p.P839Q|AKNA_uc004bip.3_Missense_Mutation_p.P1298Q|AKNA_uc004bir.3_Missense_Mutation_p.P1379Q|AKNA_uc004bis.3_Missense_Mutation_p.P1379Q|AKNA_uc010mve.2_Missense_Mutation_p.P1260Q	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCGGGCTGGTGGGGGAGAGGC	0.657000														27			14		3.51602e-12	5.69907e-12	0.008871	1	0
SNAPC4	6621	broad.mit.edu	37	9	139272358	139272358	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:139272358G>A	uc004chh.3	-	20	3930	c.3921C>T	c.(3919-3921)gcC>gcT	p.A1307A		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1307	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCTGCACAGGGCTGGGGGCT	0.706000														26			12		0	0	0.013537	0	0
GALNT12	79695	broad.mit.edu	37	9	101597641	101597641	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:101597641C>T	uc004ayz.3	+	4	1028	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	343	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTCGAATTTTCCTTTAGGGTA	0.423000														58			27		0	0	0.010818	0	0
C15orf2	23742	broad.mit.edu	37	15	24922388	24922388	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:24922388C>T	uc001ywo.3	+	0	1848	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	458	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.T457P(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CATTCACAATCCCTAACTCTC	0.498000														43			24		0	0	0.002780	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68221874	68221874	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:68221874T>C	uc001xka.2	-	36	7019	c.6880A>G	c.(6880-6882)Aag>Gag	p.K2294E	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.3_Missense_Mutation_p.K140E	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2294					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCTTGGCCTTAAGTAGCCAT	0.478000														41			15		0	0	0.003163	0	0
DLGAP1	9229	broad.mit.edu	37	18	3567488	3567488	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:3567488C>T	uc002kmf.3	-	9	2584	c.2057_splice	c.e9+1	p.C686_splice	DLGAP1_uc010wyz.2_Splice_Site_p.C686_splice|DLGAP1_uc010dkn.3_Splice_Site_p.C394_splice|DLGAP1_uc002kme.2_Splice_Site_p.C384_splice|DLGAP1_uc010wyw.2_Splice_Site_p.C392_splice|DLGAP1_uc010wyx.2_Splice_Site_p.C408_splice|DLGAP1_uc010wyy.2_Splice_Site_p.C370_splice|DLGAP1_uc002kmg.3_Splice_Site_p.C384_splice	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	686					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTGGACTTACCACTTCTCTTC	0.418000														22			61		0	0	0.014410	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444552	138444552	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:138444552C>T	uc003vuf.3	-	6	822	c.584G>A	c.(583-585)gGa>gAa	p.G195E	ATP6V0A4_uc003vug.3_Missense_Mutation_p.G195E|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.G195E	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	195					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTACACGTTTCCTCGGCAGAT	0.527000														21			27		0	0	0.007291	0	0
HPD	3242	broad.mit.edu	37	12	122295687	122295688	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:122295687_122295688GG>AA	uc001ubj.3	-	2	108_109	c.68_69CC>TT	c.(67-69)acc>aTT	p.T23I	HPD_uc001ubk.3_5'UTR	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	23					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CAACCCAGAAGGTCACAGAGTG	0.599000														13			9		0	0	0.004672	0	0
MAPK3	5595	broad.mit.edu	37	16	30129013	30129013	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:30129013C>T	uc002dws.3	-	4	853	c.753G>A	c.(751-753)ctG>ctA	p.L251L	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.L137L|MAPK3_uc002dwv.4_Silent_p.L251L|MAPK3_uc002dwt.3_Silent_p.L251L	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	251	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TGAGCTGATCCAGGTAGTGCT	0.562000														49			12		0	0	0.004007	0	0
ZFPL1	7542	broad.mit.edu	37	11	64855563	64855563	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:64855563C>T	uc001ocq.1	+	7	1075	c.910C>T	c.(910-912)Cac>Tac	p.H304Y		NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	304					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CATGAACCCTCACATCCGCGT	0.657000														50			15		0	0	0.004007	0	0
OR6S1	341799	broad.mit.edu	37	14	21109567	21109567	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:21109567G>A	uc001vxv.1	-	0	284	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S95F(2)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCAGCAAAGGAAATAGTGTG	0.468000														33			18		0	0	0.014323	0	0
COL4A2	1284	broad.mit.edu	37	13	111088659	111088659	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:111088659C>T	uc001vqx.3	+	12	1059	c.770C>T	c.(769-771)aCc>aTc	p.T257I		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	257	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCATCAGACACCCTCCACCCC	0.458000														14			17		0	0	0.012319	0	0
APOB	338	broad.mit.edu	37	2	21241968	21241968	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:21241968C>T	uc002red.3	-	19	3145	c.3017G>A	c.(3016-3018)aGg>aAg	p.R1006K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1006					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)	TCCTGTAGGCCTCAGTTCCAG	0.438000														179			114		0	0	0.014410	0	0
DMXL1	1657	broad.mit.edu	37	5	118576136	118576136	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:118576136C>T	uc010jcl.1	+	41	8855	c.8674C>T	c.(8674-8676)Ctt>Ttt	p.L2892F	DMXL1_uc003ksd.2_Missense_Mutation_p.L2871F|DMXL1_uc021ycw.1_Missense_Mutation_p.L2698F|DMXL1_uc010jcm.1_Non-coding_Transcript|DMXL1_uc003kse.1_Missense_Mutation_p.L45F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2871										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTGGGATACTCTTGTAGCACC	0.289000														43			42		0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78513028	78513028	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:78513028G>C	uc001syp.3	+	14	3225	c.3052G>C	c.(3052-3054)Gat>Cat	p.D1018H	NAV3_uc001syo.3_Missense_Mutation_p.D1018H|NAV3_uc010sub.2_Missense_Mutation_p.D518H|NAV3_uc009zsf.3_Missense_Mutation_p.D26H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1018						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.D1017N(1)		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						GAAAACCGATGATGCCAAAGC	0.388000										HNSCC(70;0.22)				78			12		0	0	0.003163	0	0
BRD4	23476	broad.mit.edu	37	19	15350808	15350809	+	Missense_Mutation	DNP	CG	GC	GC			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:15350808_15350809CG>GC	uc002nar.3	-	14	3416_3417	c.3194_3195CG>GC	c.(3193-3195)ccg>cGC	p.P1065R		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1065					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTATCATAAGCGGGGAGGGGGC	0.564000			T	C15orf55	lethal midline carcinoma of young people									27			6		0	0	0.004672	0	0
MAP2	4133	broad.mit.edu	37	2	210560314	210560314	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:210560314C>T	uc002vde.1	+	6	3668	c.3420C>T	c.(3418-3420)ctC>ctT	p.L1140L	MAP2_uc002vdc.1_Silent_p.L1140L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.L1136L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1140					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATGAAAGTCTCACCATGGAGT	0.463000														14			23		0	0	0.003330	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251757	25251757	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:25251757G>A	uc002dod.4	-	6	2691	c.2284C>T	c.(2284-2286)Cgt>Tgt	p.R762C	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.R558C	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	762					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CACATCAGACGAGTGCTCCTT	0.502000														29			12		0	0	0.010729	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796641	7796641	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:7796641C>T	uc002mhp.4	-	1	141	c.72G>A	c.(70-72)tgG>tgA	p.W24*	CLEC4G_uc021uny.1_Nonsense_Mutation_p.W12*	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	24						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						TCCAGTGCACCCAGCGTCCCC	0.587000														14			7		0	0	0.001984	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145483828	145483828	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:145483828G>A	uc003lnv.3	-	0	119	c.47C>T	c.(46-48)tCc>tTc	p.S16F	PLAC8L1_uc021yfd.1_Non-coding_Transcript|PLAC8L1_uc011dbp.2_Non-coding_Transcript|Mir_584_uc021yfe.1_5'Flank	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	Homo sapiens PLAC8-like 1 (PLAC8L1), mRNA.	16										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGAGTAAGGAAAGATCCTC	0.398000														21			8		0	0	0.004482	0	0
OR52K1	390036	broad.mit.edu	37	11	4510907	4510907	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:4510907C>T	uc001lza.2	+	0	799	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I259I(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTAGTCATCTCTTCAGTCA	0.527000														61			41		0	0	0.014410	0	0
IQCA1	79781	broad.mit.edu	37	2	237276886	237276886	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:237276886G>A	uc002vwb.2	-	13	1678	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	IQCA1_uc002vvz.1_Silent_p.S540S|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.S499S	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	540							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CATCCAGGAGGGAGGGCATGG	0.517000														7			4		0	0	0.000602	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526248	176526248	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:176526248T>C	uc001gkz.3	+	1	1954	c.790T>C	c.(790-792)Tac>Cac	p.Y264H	PAPPA2_uc001gky.1_Missense_Mutation_p.Y264H|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	264					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						GCCCATCTTATACTTCTCTGG	0.572000														25			12		0	0	0.013537	0	0
HDC	3067	broad.mit.edu	37	15	50535050	50535050	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:50535050G>A	uc001zxz.3	-	11	1738	c.1396C>T	c.(1396-1398)Ctc>Ttc	p.L466F	HDC_uc001zxy.3_Missense_Mutation_p.L209F|HDC_uc010uff.2_Missense_Mutation_p.L433F	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	466					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCTCGAATGAGATTCCAGTCT	0.527000														13			9		0	0	0.006214	0	0
C12orf50	160419	broad.mit.edu	37	12	88381713	88381713	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:88381713G>A	uc001tam.1	-	8	899	c.731C>T	c.(730-732)tCc>tTc	p.S244F	C12orf50_uc001tan.3_Intron	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	244										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGTAGTTAGGGAATGCTTTGG	0.343000														30			19		0	0	0.002780	0	0
COL22A1	169044	broad.mit.edu	37	8	139626153	139626153	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:139626153C>T	uc003yvd.3	-	55	4382	c.3935G>A	c.(3934-3936)gGa>gAa	p.G1312E	COL22A1_uc011ljo.2_Missense_Mutation_p.G592E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1312	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)			CCCAGTGGGTCCAGTGTCACC	0.498000										HNSCC(7;0.00092)				66			37		0	0	0.008740	0	0
ROMO1	140823	broad.mit.edu	37	20	34288725	34288725	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:34288725G>T	uc002xdy.3	+	2	284	c.137G>T	c.(136-138)gGa>gTa	p.G46V	NFS1_uc002xdt.2_5'Flank|NFS1_uc010zvl.2_5'Flank|NFS1_uc010zvk.2_5'Flank|NFS1_uc002xdw.2_5'Flank|NFS1_uc002xdx.3_5'Flank|ROMO1_uc010gfm.3_Missense_Mutation_p.G46V	NM_080748	NP_542786	P60602	ROMO1_HUMAN	Homo sapiens reactive oxygen species modulator 1 (ROMO1), nuclear gene encoding mitochondrial protein, mRNA.	46					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						CTCAGGATCGGAATGCGGGGT	0.483000														56			17		9.16793e-09	1.47967e-08	0.004990	1	0
HCAR2	338442	broad.mit.edu	37	12	123187700	123187700	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:123187700C>T	uc001ucx.1	-	0	205	c.131G>A	c.(130-132)gGc>gAc	p.G44D	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	44					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AAGGCCATTGCCCAGAAGCCC	0.507000														12			13		0	0	0.002450	0	0
BRF1	2972	broad.mit.edu	37	14	105684023	105684023	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:105684023G>C	uc001yqp.2	-	14	1993	c.1630C>G	c.(1630-1632)Cgg>Ggg	p.R544G	BRF1_uc010tyo.1_Missense_Mutation_p.R429G|BRF1_uc010typ.1_Missense_Mutation_p.R451G|BRF1_uc001yqk.2_Missense_Mutation_p.R70G|BRF1_uc001yql.2_Missense_Mutation_p.R340G|BRF1_uc001yqo.2_Missense_Mutation_p.R306G|BRF1_uc010axg.1_Missense_Mutation_p.R517G|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Missense_Mutation_p.R70G	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	544					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CTGAGGCCCCGGAGCACGCTA	0.637000														3			5		0	0	0.001168	0	0
ZNF205	7755	broad.mit.edu	37	16	3169264	3169264	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:3169264C>T	uc002cub.3	+	6	738	c.603C>T	c.(601-603)gtC>gtT	p.V201V	ZNF205_uc002cua.3_Silent_p.V201V	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CAGGAGCCGTCGAGGTGGGGC	0.617000														36			12		0	0	0.004007	0	0
OR2M3	127062	broad.mit.edu	37	1	248366744	248366744	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248366744C>T	uc010pzg.2	+	0	375	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTACACTGCCATTTGCCACC	0.443000														171			26		0	0	0.004656	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747339	62747339	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:62747339G>A	uc001nwk.3	-	6	1452	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	SLC22A6_uc001nwl.3_Silent_p.I373I|SLC22A6_uc001nwj.3_Silent_p.I373I|SLC22A6_uc001nwm.3_Silent_p.I373I	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	373					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.I373I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGCACCAAAGATCACCTGGA	0.572000														30			12		0	0	0.010729	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261885	125261885	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:125261885C>T	uc010flu.3	+	7	1443	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	CNTNAP5_uc002tno.3_Missense_Mutation_p.S359F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	359	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.C360F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTCACTTTTTCCTGCTCCGAA	0.463000														48			21		0	0	0.002780	0	0
DISC1	27185	broad.mit.edu	37	1	231954099	231954099	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:231954099A>T	uc010pxh.2	+	9	1966	c.1913A>T	c.(1912-1914)gAc>gTc	p.D638V	DISC1_uc010pwj.1_Missense_Mutation_p.D595V|DISC1_uc010pwk.1_Missense_Mutation_p.T561S|DISC1_uc010pwg.1_Missense_Mutation_p.D595V|DISC1_uc010pwh.1_Missense_Mutation_p.D561V|DISC1_uc010pwi.1_Missense_Mutation_p.D561V|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwr.1_Missense_Mutation_p.D606V|DISC1_uc010pws.1_Missense_Mutation_p.T572S|DISC1_uc010pwt.1_3'UTR|DISC1_uc010pwu.1_3'UTR|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.D606V|DISC1_uc001huy.3_Missense_Mutation_p.D606V|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.D606V|DISC1_uc010pxc.1_Intron|DISC1_uc010pxe.2_Missense_Mutation_p.D606V|DISC1_uc010pxf.2_Missense_Mutation_p.D606V|DISC1_uc010pxg.2_Intron|DISC1_uc010pxd.2_Missense_Mutation_p.D251V|DISC1_uc009xfr.3_Missense_Mutation_p.D561V|DISC1_uc010pxn.1_Missense_Mutation_p.D251V|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Missense_Mutation_p.D251V|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.D484V|DISC1_uc001huz.3_Missense_Mutation_p.D606V|DISC1_uc001hva.3_Missense_Mutation_p.D606V|DISC2_uc001hvd.3_Non-coding_Transcript	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	606	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACGGCTAAAGACCTCACCGAG	0.483000														31			30		0	0	0.010818	0	0
TIRAP	114609	broad.mit.edu	37	11	126162942	126162942	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:126162942T>C	uc001qdl.1	+	4	1090	c.638T>C	c.(637-639)gTc>gCc	p.V213A	TIRAP_uc009zcb.1_Missense_Mutation_p.V213A|TIRAP_uc001qdm.1_Missense_Mutation_p.V213A|TIRAP_uc001qdn.1_Missense_Mutation_p.V213A|TIRAP_uc001qdo.1_Missense_Mutation_p.V213A	NM_148910	NP_683708	P58753	TIRAP_HUMAN	Homo sapiens toll-interleukin 1 receptor (TIR) domain containing adaptor protein (TIRAP), transcript variant 2, mRNA.	213	TIR.				3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of neutrophil chemotaxis|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	Toll-like receptor 2 binding|Toll-like receptor 4 binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|transmembrane receptor activity			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		AAAGAAGCTGTCATGCGTTGT	0.527000														8			14		0	0	0.003163	0	0
WDR67	93594	broad.mit.edu	37	8	124117616	124117616	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:124117616G>A	uc003ypp.2	+	7	1211	c.1121G>A	c.(1120-1122)aGa>aAa	p.R374K	WDR67_uc011lig.2_Missense_Mutation_p.R374K|WDR67_uc011lih.2_Missense_Mutation_p.R264K|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Missense_Mutation_p.R87K	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	374						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACATCAGGGAGAGTACAGCAG	0.358000														19			14		0	0	0.002450	0	0
DSG3	1830	broad.mit.edu	37	18	29040811	29040811	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr18:29040811C>T	uc002kws.3	+	6	809	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	234	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGCAGCTATCGTCTGGTTGT	0.338000														6			19		0	0	0.012319	0	0
LRRK1	79705	broad.mit.edu	37	15	101593484	101593484	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:101593484C>T	uc002bwr.3	+	25	4232	c.3913C>T	c.(3913-3915)Cgg>Tgg	p.R1305W	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1305	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCCGAGTTCCGGCAGGAGGC	0.662000														15			8		0	0	0.003080	0	0
TMEM67	91147	broad.mit.edu	37	8	94828667	94828667	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:94828667G>A	uc011lgk.2	+	27	3046	c.2975G>A	c.(2974-2976)aGa>aAa	p.R992K	TMEM67_uc003yga.4_Missense_Mutation_p.R911K|TMEM67_uc011lgl.2_Missense_Mutation_p.R391K	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	992					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTGGATCAAAGATTTTTGATT	0.274000														62			37		0	0	0.006999	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743711	26743711	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:26743711G>A	uc003acb.3	+	10	2435	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	SEZ6L_uc003acd.3_Missense_Mutation_p.D747N|SEZ6L_uc011akd.2_Missense_Mutation_p.D747N|SEZ6L_uc003ace.3_Missense_Mutation_p.D747N|SEZ6L_uc011akc.2_Missense_Mutation_p.D747N|SEZ6L_uc003acc.3_Missense_Mutation_p.D747N|SEZ6L_uc003acf.1_Missense_Mutation_p.D520N|SEZ6L_uc010gvc.1_Missense_Mutation_p.D520N|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	747	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCTGCTCGGATTTACCCGA	0.512000														8			46		0	0	0.014410	0	0
SETDB1	9869	broad.mit.edu	37	1	150921900	150921900	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:150921900C>T	uc001evu.2	+	11	1669	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S	SETDB1_uc009wmf.2_Silent_p.S494S|SETDB1_uc001evv.2_Silent_p.S493S|SETDB1_uc009wmg.2_Silent_p.S493S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAGCACGTCCTTTCGACCAG	0.498000														79			41		0	0	0.011902	0	0
TMEM120B	144404	broad.mit.edu	37	12	122209433	122209433	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:122209433C>T	uc001ubc.4	+	7	801	c.657C>T	c.(655-657)ttC>ttT	p.F219F	TMEM120B_uc009zxh.3_Silent_p.F219F	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	219						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		GCAACCAGTTCTTAGCATTTT	0.483000														26			28		0	0	0.008361	0	0
DNAJC6	9829	broad.mit.edu	37	1	65860679	65860679	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:65860679C>T	uc001dce.1	+	12	2203	c.2002C>T	c.(2002-2004)Ctc>Ttc	p.L668F	DNAJC6_uc001dcd.1_Missense_Mutation_p.L611F|DNAJC6_uc010opc.1_Missense_Mutation_p.L598F	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	611	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TGACCCCTTTCTCCAGCCAAC	0.443000														105			33		0	0	0.003755	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422088	115422088	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:115422088C>T	uc011lwx.1	+	4	2149	c.1974C>T	c.(1972-1974)taC>taT	p.Y658Y	KIAA1958_uc004bgf.1_Silent_p.Y630Y	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	630										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGTGCCCTTACTGCCTCCTCT	0.597000														7			7		0	0	0.001984	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881545	228881545	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:228881545G>A	uc002vpq.2	-	6	4072	c.4025C>T	c.(4024-4026)tCg>tTg	p.S1342L	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1342L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1342L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1342						cytoplasm	protein binding	p.P1341R(1)		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)		CTCTGCTTGCGAGGGAGAGCC	0.522000														31			16		0	0	0.003163	0	0
CSMD2	114784	broad.mit.edu	37	1	34189828	34189828	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:34189828G>A	uc001bxm.1	-	18	3147	c.2970C>T	c.(2968-2970)tgC>tgT	p.C990C	CSMD2_uc001bxn.1_Silent_p.C950C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	950	CUB 6.					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)				TAATCCAGGTGCAGTTCAAGT	0.527000														68			10		0	0	0.010729	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444330	5444330	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:5444330G>A	uc010qzd.2	+	0	990	c.900G>A	c.(898-900)caG>caA	p.Q300Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACAAGCAGATCCAATGGG	0.423000														27			19		0	0	0.007413	0	0
HBG1	3047	broad.mit.edu	37	11	5275617	5275617	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:5275617C>T	uc001mai.1	-	1	657	c.220G>A	c.(220-222)Gat>Aat	p.D74N	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.D74N	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	74			D -> H (in Xin-su).|D -> N (in Forest Park; associated with T-76).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTATGGCATCTCCCAAGGAA	0.527000														103			47		0	0	0.014410	0	0
NLRP9	338321	broad.mit.edu	37	19	56244857	56244857	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:56244857C>T	uc002qly.3	-	1	368	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	114						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGACAGGTTTCCTTCTCCCAT	0.378000														63			29		0	0	0.003755	0	0
CD163L1	283316	broad.mit.edu	37	12	7510023	7510023	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:7510023G>A	uc010sge.2	-	18	4395	c.4369C>T	c.(4369-4371)Cct>Tct	p.P1457S	CD163L1_uc001qsy.3_Missense_Mutation_p.P1447S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1447						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCAGAGGCAGGAAGAACTCCC	0.413000														53			18		0	0	0.012319	0	0
DNAH5	1767	broad.mit.edu	37	5	13763005	13763005	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:13763005G>A	uc003jfd.2	-	59	10149	c.10107C>T	c.(10105-10107)ttC>ttT	p.F3369F	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3369	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F3369L(2)		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)					TGTCTTTTGGGAATTGCTATG	0.368000									Kartagener syndrome					8			51		0	0	0.014410	0	0
MUC15	143662	broad.mit.edu	37	11	26586936	26586936	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:26586936G>A	uc001mqw.3	-	2	824	c.551C>T	c.(550-552)aCc>aTc	p.T184I	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.T157I|MUC15_uc001mqy.3_Missense_Mutation_p.T184I	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	157			I -> T (in dbSNP:rs2292290).			extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGTTTTCACGGTGTCATTGAC	0.458000														37			15		0	0	0.003163	0	0
CD1B	910	broad.mit.edu	37	1	158300748	158300748	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:158300748G>A	uc001frx.3	-	1	274	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	CD1B_uc001frw.3_Missense_Mutation_p.H56Y|CD1B_uc010pic.1_Missense_Mutation_p.H56Y	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	56					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCCCAGCCATGAATCTGCAAA	0.493000														200			102		0	0	0.014410	0	0
FAM47B	170062	broad.mit.edu	37	X	34961290	34961290	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:34961290G>A	uc004ddi.2	+	0	378	c.342G>A	c.(340-342)cgG>cgA	p.R114R		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	114										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCCAGCACGGAAGGCGTTCG	0.532000														26			31		0	0	0.010818	0	0
EPPK1	83481	broad.mit.edu	37	8	144945562	144945562	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:144945562G>A	uc003zaa.1	-	0	1873	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	620						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCGTTCCTGGGAGCCAGGGA	0.647000														8			9		0	0	0.004482	0	0
KLHL22	84861	broad.mit.edu	37	22	20796379	20796379	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:20796379T>C	uc002zsl.2	-	6	2043	c.1886A>G	c.(1885-1887)gAc>gGc	p.D629G	KLHL22_uc011ahr.2_Missense_Mutation_p.D486G	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	629					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACTGGAGTTGTCAAACTCCTC	0.642000														28			5		0	0	0.001168	0	0
IL28RA	163702	broad.mit.edu	37	1	24484058	24484058	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:24484058G>A	uc001bis.3	-	6	1152	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	IL28RA_uc001bir.3_Silent_p.V346V|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Silent_p.V291V	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	375					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		CTTCGCTTGGGACCAGAGGAG	0.622000														15			18		0	0	0.004990	0	0
LILRB2	10288	broad.mit.edu	37	19	54782706	54782706	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:54782706A>C	uc002qfb.3	-	5	1182	c.916T>G	c.(916-918)Tgc>Ggc	p.C306G	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.C306G|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.C306G|LILRB2_uc010yet.2_Missense_Mutation_p.C190G|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	306	Ig-like C2-type 3.		C -> W (in dbSNP:rs7247451).		cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCCGAGCACTCAGAGGAG	0.662000														15			10		0	0	0.010729	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166145	180166145	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:180166145C>T	uc003mmf.1	-	0	914	c.914G>A	c.(913-915)tGg>tAg	p.W305*		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCCCCTCCATAGTACTTT	0.423000														59			48		0	0	0.014410	0	0
OR2T2	401992	broad.mit.edu	37	1	248616389	248616389	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248616389C>T	uc001iek.1	+	0	291	c.291C>T	c.(289-291)ggC>ggT	p.G97G		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L96L(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CCTTCCTGGGCTGTGCAGTTC	0.532000														176			51		0	0	0.014410	0	0
C1orf198	84886	broad.mit.edu	37	1	230979419	230979419	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:230979419G>A	uc001hub.3	-	2	652	c.608C>T	c.(607-609)cCt>cTt	p.P203L	C1orf198_uc009xfh.2_Missense_Mutation_p.P73L|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.P165L	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	203										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTCGGCCTCAGGCCCCTCCCC	0.642000														22			25		0	0	0.003954	0	0
UNC13C	440279	broad.mit.edu	37	15	54586225	54586225	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:54586225G>A	uc021smr.1	+	8	3945	c.3945G>A	c.(3943-3945)agG>agA	p.R1315R	UNC13C_uc021sms.1_Silent_p.R1317R|UNC13C_uc002acl.3_Silent_p.R147R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1317					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAGAAGTGAGGACCTTGAGTG	0.363000														53			32		0	0	0.006999	0	0
PLIN4	729359	broad.mit.edu	37	19	4510976	4510976	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:4510976C>T	uc002mar.1	-	2	2954	c.2954G>A	c.(2953-2955)aGt>aAt	p.S985N	PLIN4_uc010dub.1_Missense_Mutation_p.S9N	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	985	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGTAACCCCACTGAAGACAGT	0.617000														19			5		0	0	0.000602	0	0
FCGBP	8857	broad.mit.edu	37	19	40408029	40408029	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr19:40408029C>T	uc002omp.4	-	8	4700	c.4692G>A	c.(4690-4692)gaG>gaA	p.E1564E		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1564	Cys-rich.|TIL 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACTGGCAGCCCTCAGCACACC	0.602000														31			10		0	0	0.006214	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125367418	125367418	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:125367418G>A	uc010flu.3	+	11	2161	c.1797G>A	c.(1795-1797)ggG>ggA	p.G599G	CNTNAP5_uc002tno.3_Silent_p.G598G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	598	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCACCAGGGGAATACAGCCG	0.537000														32			16		0	0	0.003163	0	0
MUC3A	4584	broad.mit.edu	37	7	100608884	100608884	+	Missense_Mutation	SNP	G	A	A	rs73163797	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100608884G>A	uc003uxl.1	+	6	2763	c.1963G>A	c.(1963-1965)Gcg>Acg	p.A655T	AK096803_uc003uxm.1_Non-coding_Transcript|AK096803_uc003uxn.1_Intron|MUC3A_uc010lhn.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;									p.A755T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAGCGGTCCCGCGTGTCGGTA	0.667000														11			5		0	0	0.010729	0	0
TRPM2	7226	broad.mit.edu	37	21	45786783	45786783	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:45786783C>T	uc010gpt.1	+	3	670	c.570C>T	c.(568-570)ttC>ttT	p.F190F	TRPM2_uc002zet.1_Silent_p.F190F|TRPM2_uc002zeu.1_Silent_p.F190F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F190F|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	190						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGAGCATTTTCCGCAGAGGCC	0.642000														7			11		0	0	0.010729	0	0
PTPRT	11122	broad.mit.edu	37	20	40733337	40733337	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:40733337C>T	uc002xkg.3	-	24	3596	c.3412G>A	c.(3412-3414)Gat>Aat	p.D1138N	PTPRT_uc010ggj.3_Missense_Mutation_p.D1157N|PTPRT_uc010ggi.3_Missense_Mutation_p.D341N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1138	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.C1137Y(1)		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)				AGGATGGCATCGTGCACAAAC	0.512000														27			17		0	0	0.004990	0	0
THSD7B	80731	broad.mit.edu	37	2	137988738	137988738	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:137988738C>T	uc002tva.1	+	6	1755	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.S475S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTCCCAGTCCTGTTCAAATA	0.507000														14			14		0	0	0.002450	0	0
TREM1	54210	broad.mit.edu	37	6	41250298	41250298	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:41250298G>A	uc003oqf.2	-	1	305	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	TREM1_uc003oqg.2_Nonsense_Mutation_p.Q81*|TREM1_uc021yzj.1_Nonsense_Mutation_p.Q81*	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	81	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CTCCCCACTTGGACTGGATGG	0.498000														21			40		0	0	0.009718	0	0
CEP170P1	645455	broad.mit.edu	37	4	119472291	119472291	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:119472291C>T	uc003icb.3	+	5	588	c.504C>T	c.(502-504)gcC>gcT	p.A168A						Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA.																		AATTAAGAGCCGAAAGTGAAG	0.274000														9			16		0	0	0.008871	0	0
DSCAM	1826	broad.mit.edu	37	21	41725663	41725663	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr21:41725663C>T	uc002yyq.1	-	4	1115	c.663G>A	c.(661-663)gcG>gcA	p.A221A	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	221					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	p.A221A(2)		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)				GGGCTGAGTTCGCTGGGTCTG	0.498000														7			6		0	0	0.001168	0	0
RHBDL3	162494	broad.mit.edu	37	17	30648009	30648009	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:30648009C>T	uc010csx.1	+	7	889	c.875C>T	c.(874-876)cCg>cTg	p.P292L	RHBDL3_uc002hhe.1_Missense_Mutation_p.R326C|RHBDL3_uc010csw.1_Missense_Mutation_p.R318C|RHBDL3_uc010csy.1_Missense_Mutation_p.R228C|RHBDL3_uc002hhf.1_Missense_Mutation_p.R228C			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	0					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CGTGTGGCTCCGCTTCCACCC	0.662000														28			13		0	0	0.013537	0	0
PRSS1	5644	broad.mit.edu	37	7	142460761	142460761	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:142460761G>A	uc003wak.2	+	4	651	c.634G>A	c.(634-636)Gga>Aga	p.G212R	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.G152R	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	212	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACAGCTCCAAGGAGTTGTCTC	0.502000														20			44		0	0	0.011902	0	0
MUC17	140453	broad.mit.edu	37	7	100677263	100677263	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:100677263C>T	uc003uxp.1	+	2	2619	c.2566C>T	c.(2566-2568)Cca>Tca	p.P856S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	856	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.488000														274			14		0	0	0.004990	0	0
BTBD8	284697	broad.mit.edu	37	1	92554331	92554331	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:92554331C>T	uc001doo.3	+	1	493	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	76	BTB 1.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CAAAGCAGTCCTTTTAGCAAG	0.368000														77			29		0	0	0.008361	0	0
TRIM58	25893	broad.mit.edu	37	1	248028016	248028016	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:248028016G>A	uc001ido.3	+	2	574	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	176						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)			GGAGAAAGTGGAAATGCAGAG	0.582000														23			10		0	0	0.008291	0	0
RPL5	6125	broad.mit.edu	37	1	93298955	93298955	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:93298955A>T	uc001doz.3	+	1	91	c.13A>T	c.(13-15)Aaa>Taa	p.K5*	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	5					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GGGGTTTGTTAAAGTTGTTAA	0.299000														42			48		0	0	0.014410	0	0
CEP128	145508	broad.mit.edu	37	14	81251619	81251619	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:81251619G>A	uc001xux.2	-	13	2002	c.1831C>T	c.(1831-1833)Cac>Tac	p.H611Y	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	611						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCTCCAAGTGAGCTTTCTCA	0.453000														58			29		0	0	0.007291	0	0
OTOF	9381	broad.mit.edu	37	2	26705273	26705274	+	Splice_Site	DNP	CC	TT	TT			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr2:26705273_26705274CC>TT	uc002rhk.3	-	14	1706	c.1579_splice	c.e14+1	p.G527_splice		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	527					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCTGCTGACCTTTGTCTCCG	0.574000														22			12		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	107013315	107013315	+	RNA	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:107013315C>T	uc021ser.1	-	218		c.8561G>A								Parts of antibodies, mostly variable regions.																		CACTCATGTCCCCTCACACTC	0.468000														23			19		0	0	0.006122	0	0
RHCG	51458	broad.mit.edu	37	15	90021107	90021107	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:90021107G>A	uc002bnz.2	-	5	960	c.936C>T	c.(934-936)gtC>gtT	p.V312V	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Silent_p.V196V	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	312					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGATGCCGCAGACGAAGCCGA	0.587000														16			14		0	0	0.003163	0	0
MYH4	4622	broad.mit.edu	37	17	10361017	10361017	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:10361017C>T	uc002gmn.3	-	15	1728	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	539	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACATGCACTCCTCTTCTAGGA	0.438000														64			21		0	0	0.014323	0	0
C9	735	broad.mit.edu	37	5	39308393	39308393	+	Silent	SNP	T	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:39308393T>C	uc003jlv.4	-	7	1268	c.1179A>G	c.(1177-1179)gaA>gaG	p.E393E		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	393	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAACAGAGATTTCAGAGAAAG	0.358000														86			13		0	0	0.013537	0	0
ZNF619	285267	broad.mit.edu	37	3	40523445	40523445	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:40523445C>T	uc011azb.2	+	2	423	c.116C>T	c.(115-117)cCt>cTt	p.P39L	ZNF619_uc011aza.2_5'UTR|ZNF619_uc011azc.2_Missense_Mutation_p.P39L|ZNF619_uc011azd.2_Intron|ZNF619_uc003ckj.3_Silent_p.P6P|ZNF619_uc021wwh.1_Silent_p.P6P	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	39					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCCTGCACCCTACGCAGAGG	0.527000														60			38		0	0	0.010771	0	0
LGR5	8549	broad.mit.edu	37	12	71898435	71898435	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:71898435C>T	uc001swl.3	+	1	302	c.254C>T	c.(253-255)cCc>cTc	p.P85L	LGR5_uc001swm.3_Missense_Mutation_p.P85L|LGR5_uc021rar.1_Missense_Mutation_p.P85L|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	85						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTCCCGAATCCCCTGCCCAGT	0.507000														100			34		0	0	0.004289	0	0
TAF1L	138474	broad.mit.edu	37	9	32631964	32631964	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:32631964C>T	uc003zrg.1	-	0	3704	c.3614G>A	c.(3613-3615)cGa>cAa	p.R1205Q	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1205					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCTGGTTTTCGGACTGTCTC	0.423000														57			37		0	0	0.009718	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170762	47170762	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:47170762C>T	uc001rpi.2	-	12	1498	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	SLC38A4_uc001rpj.2_Missense_Mutation_p.V367M	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	367					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.T366T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATATTTGACACCGTTTGCATT	0.383000														50			12		0	0	0.010729	0	0
GPR151	134391	broad.mit.edu	37	5	145894714	145894714	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:145894714C>T	uc003lod.1	-	0	963	c.963G>A	c.(961-963)tgG>tgA	p.W321*		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	321						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATCCATTTCCATACACCTT	0.448000														29			14		0	0	0.001855	0	0
KIAA1755	85449	broad.mit.edu	37	20	36867950	36867950	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr20:36867950G>A	uc002xhy.1	-	3	1999	c.1727C>T	c.(1726-1728)tCc>tTc	p.S576F	KIAA1755_uc002xhz.1_Missense_Mutation_p.S576F	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	576								p.S576P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGCTATCCTGGAGCGGAAAAC	0.637000														25			11		0	0	0.001855	0	0
RPL9	6133	broad.mit.edu	37	4	39456226	39456226	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:39456226G>A	uc003gub.3	-	5	664	c.516C>T	c.(514-516)atC>atT	p.I172I	RPL9_uc003guc.3_Silent_p.I172I|RPL9_uc011byk.2_Non-coding_Transcript	NM_001024921	NP_001020092	P32969	RL9_HUMAN	Homo sapiens ribosomal protein L9 (RPL9), transcript variant 2, mRNA.	172					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						AAAATTTCCTGATATCCTTGT	0.353000														7			17		0	0	0.006122	0	0
CLDN10	9071	broad.mit.edu	37	13	96230203	96230203	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:96230203C>T	uc001vmh.2	+	4	683	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	CLDN10_uc001vmg.2_Missense_Mutation_p.H206Y|CLDN10_uc010tii.1_Missense_Mutation_p.H187Y	NM_006984	NP_008915	P78369	CLD10_HUMAN	Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA.	208					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GACAAAGTATCATGGTGGAGA	0.388000														27			18		0	0	0.010504	0	0
GALNT10	55568	broad.mit.edu	37	5	153755896	153755896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr5:153755896C>T	uc003lvh.3	+	4	760	c.628C>T	c.(628-630)Cga>Tga	p.R210*	GALNT10_uc003lvg.1_Nonsense_Mutation_p.R210*|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	210	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R210*(2)|p.L209L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGGATTCTTCGAACCAAGAA	0.502000														48			23		0	0	0.014323	0	0
DNAH1	25981	broad.mit.edu	37	3	52431002	52431002	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:52431002A>C	uc011bef.2	+	72	11990	c.11729A>C	c.(11728-11730)gAg>gCg	p.E3910A	DNAH1_uc003ddv.3_Missense_Mutation_p.E768A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3975	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCTCCCCTGAGCACAGCTAC	0.617000														3			3		0	0	0.004672	0	0
FAM5B	57795	broad.mit.edu	37	1	177250484	177250484	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:177250484G>A	uc001glf.3	+	7	2484	c.2172G>A	c.(2170-2172)agG>agA	p.R724R	FAM5B_uc001glg.3_Silent_p.R619R	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	724						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TTGAGCTCAGGGACCGGGTGA	0.537000														47			27		0	0	0.005443	0	0
CCR4	1233	broad.mit.edu	37	3	32995941	32995941	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:32995941C>A	uc003cfg.1	+	1	1195	c.1027C>A	c.(1027-1029)Ccc>Acc	p.P343T	CCR4_uc021wuw.1_Missense_Mutation_p.P343T	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	343					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		p.P343L(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGCTGACACCCCCAGCTCATC	0.453000														33			5		0.00116845	0.00186984	0.001168	1	0
C11orf63	79864	broad.mit.edu	37	11	122774974	122774974	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:122774974T>G	uc001pym.3	+	2	983	c.686T>G	c.(685-687)gTg>gGg	p.V229G	C11orf63_uc001pyl.1_Missense_Mutation_p.V229G	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	229										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCTCCGTACGTGAAGAGCTCA	0.512000														57			16		0	0	0.004990	0	0
ARSG	22901	broad.mit.edu	37	17	66339772	66339772	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:66339772C>T	uc002jhc.2	+	2	1042	c.246C>T	c.(244-246)tcC>tcT	p.S82S		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	82					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCTGCCTCCACCTGCTCAC	0.592000														24			7		0	0	0.004482	0	0
OMA1	115209	broad.mit.edu	37	1	58946724	58946724	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:58946724C>T	uc001cyy.3	-	8	1576	c.1488G>A	c.(1486-1488)acG>acA	p.T496T	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Intron	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	496					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TCTGTTTCTTCGTGATATTTA	0.353000														56			58		0	0	0.014410	0	0
NUDT4	11163	broad.mit.edu	37	12	93793087	93793087	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr12:93793087C>A	uc010sup.2	+	4	876	c.478C>A	c.(478-480)Ctt>Att	p.L160I	NUDT4_uc001tcm.3_Missense_Mutation_p.L159I|NUDT4_uc001tcn.3_Missense_Mutation_p.L107I|NUDT4_uc010suq.2_Missense_Mutation_p.L108I|NUDT4_uc001tco.3_Missense_Mutation_p.L107I	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	159					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AGTCCCTTCCCTTCCGGATAA	0.473000														151			19		4.35082e-09	7.03206e-09	0.010504	1	0
ARID3B	10620	broad.mit.edu	37	15	74836479	74836479	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:74836479C>T	uc002aye.3	+	1	403	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	ARID3B_uc002ayc.3_Missense_Mutation_p.P68S|ARID3B_uc002ayd.3_Missense_Mutation_p.P68S	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCCCTTAGGTCCCTTAGCCAG	0.562000														12			12		0	0	0.001855	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047905	42047905	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:42047905A>G	uc001cgz.4	-	3	3777	c.2564T>C	c.(2563-2565)gTt>gCt	p.V855A	HIVEP3_uc001cha.4_Missense_Mutation_p.V855A|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	855	Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATCTCAGGAACCTGAATGTT	0.612000														93			30		0	0	0.012213	0	0
SLC29A4	222962	broad.mit.edu	37	7	5331406	5331406	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:5331406C>T	uc003sod.3	+	4	659	c.498C>T	c.(496-498)taC>taT	p.Y166Y	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.Y166Y|SLC29A4_uc003soe.3_Missense_Mutation_p.T154M	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	166					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.A165V(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ACCAGGCCTACGCCATCAACC	0.637000														20			31		0	0	0.006230	0	0
CLVS1	157807	broad.mit.edu	37	8	62212784	62212784	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr8:62212784G>A	uc003xuh.3	+	1	722	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	CLVS1_uc003xug.2_Missense_Mutation_p.R133Q|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	133	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTGGAAAACCGAGACCATTAC	0.458000														32			14		0	0	0.004007	0	0
TMEM234	56063	broad.mit.edu	37	1	32682831	32682831	+	Silent	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:32682831C>T	uc009vub.1	-	3	360	c.357G>A	c.(355-357)acG>acA	p.T119T	TMEM234_uc001buo.3_Intron|TMEM234_uc001bup.3_Intron|TMEM234_uc010oha.2_Intron|TMEM234_uc001buq.4_Intron			Q8WY98	TM234_HUMAN	Homo sapiens transmembrane protein 234 (TMEM234), mRNA.	0						integral to membrane				kidney(2)|lung(3)	5						CACAGAGCTGCGTCCCGCACT	0.517000														26			9		0	0	0.006214	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303261	151303261	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:151303261C>T	uc022cgz.1	-	0	832	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.E278K|MAGEA10_uc004ffm.2_Missense_Mutation_p.E278K|MAGEA10_uc004ffl.3_Missense_Mutation_p.E278K	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	278	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTAGTTTTCCTGCACCCAA	0.532000														27			36		0	0	0.004289	0	0
CD19	930	broad.mit.edu	37	16	28944319	28944319	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr16:28944319C>T	uc010byo.2	+	2	505	c.443C>T	c.(442-444)tCc>tTc	p.S148F	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.S148F	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	148					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AGCTCCCCTTCCGGGAAGCTC	0.632000														7			4		0	0	0.001168	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892219	36892219	+	Silent	SNP	G	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr22:36892219G>A	uc003apn.4	-	5	1527	c.1419C>T	c.(1417-1419)ccC>ccT	p.P473P	FOXRED2_uc003apm.4_Silent_p.P25P|FOXRED2_uc003apo.4_Silent_p.P473P|FOXRED2_uc003app.4_Silent_p.P473P	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	473					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCATCTGTATGGGGAACTCCT	0.597000														12			51		0	0	0.014410	0	0
CAPN2	824	broad.mit.edu	37	1	223900573	223900573	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr1:223900573delC	uc001hob.4	+	0	455	c.231delC	c.(229-231)cgcfs	p.R77fs	CAPN2_uc010puy.2_Intron	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	77	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AGTGGAAGCGCCCCACGGTAG	0.766													---	4	---	---	2	---					
MCF2L2	23101	broad.mit.edu	37	3	182925526	182925547	+	Frame_Shift_Del	DEL	TCCTTCATTTTATAACGATCCT	-	-	rs142012093	by1000genomes	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr3:182925526_182925547delTCCTTCATTTTATAACGATCCT	uc003fli.1	-	22	2651_2672	c.2561_2582delAGGATCGTTATAAAATGAAGGA	c.(2560-2583)aaggatcgttataaaatgaaggatfs	p.K854fs		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	854	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCGAATCAAATCCTTCATTTTATAACGATCCTTGTGAATTGT	0.428													---	69	---	---	10	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:1019055_1019056delCA	uc003gce.3	+	6	1596_1597	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_uc003gcf.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.3_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													---	6	---	---	3	---					
KDR	3791	broad.mit.edu	37	4	55955941	55955941	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr4:55955941delG	uc003has.3	-	23	3523	c.3221delC	c.(3220-3222)ccafs	p.P1074fs	KDR_uc003hat.1_Frame_Shift_Del_p.P1074fs	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1074	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AATTGTTTCTGGGGCCATCCA	0.408			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			---	38	---	---	47	---					
BTN2A3P	54718	broad.mit.edu	37	6	26428209	26428210	+	Frame_Shift_Ins	INS	-	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:26428209_26428210insA	uc011dkl.1	+	3	847_848	c.817_818insA	c.(817-819)gaafs	p.E273fs	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		TCTCCAAAAGGAAAAAAAAGAT	0.416													---	46	---	---	7	---					
SLC35F1	222553	broad.mit.edu	37	6	118475765	118475765	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr6:118475765delA	uc003pxx.4	+	1	532	c.331delA	c.(331-333)acafs	p.T111fs		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	111					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CTATACCACCACACTAGCCGT	0.413													---	104	---	---	22	---					
NUP205	23165	broad.mit.edu	37	7	135262632	135262633	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr7:135262632_135262633delCT	uc003vsw.3	+	5	768_769	c.737_738delCT	c.(736-738)actfs	p.T246fs	NUP205_uc011kqa.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	246					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAAGAAGACACTCTCCTCCTCA	0.450													---	41	---	---	9	---					
LRSAM1	90678	broad.mit.edu	37	9	130248022	130248024	+	In_Frame_Del	DEL	GCA	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:130248022_130248024delGCA	uc004brb.2	+	16	1539_1541	c.1167_1169delGCA	c.(1165-1170)atgcag>atg	p.Q391del	LRSAM1_uc010mxk.2_In_Frame_Del_p.Q391del|LRSAM1_uc004brc.2_In_Frame_Del_p.Q391del|LRSAM1_uc004brd.2_In_Frame_Del_p.Q391del|LRSAM1_uc004bre.2_5'UTR	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	391					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CAGCCGCCATGCAGCAGATGCTG	0.591													---	35	---	---	21	---					
RALGDS	5900	broad.mit.edu	37	9	136029060	136029061	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr9:136029060_136029061delGG	uc004ccw.3	-	6	1228_1229	c.947_948delCC	c.(946-948)cccfs	p.P316fs	RALGDS_uc011mcw.2_Intron|RALGDS_uc010nab.3_3'UTR|RALGDS_uc011mcx.2_Frame_Shift_Del_p.P299fs|RALGDS_uc010nac.1_Frame_Shift_Del_p.P180fs|RALGDS_uc004ccy.1_3'UTR	NM_021996	NP_068836	Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	0					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	p.P316P(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAGGTACTCGGGGGACAGCAC	0.589			T	CIITA	"""PMBL, Hodgkin Lymphona, """								---	97	---	---	24	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	-	-	rs3812754	byFrequency	TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:12316384_12316389delCTCCTA	uc001mkg.1	+	2	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	470	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(4)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													---	2	---	---	4	---					
OR5D13	390142	broad.mit.edu	37	11	55541445	55541445	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr11:55541445delA	uc010ril.2	+	0	532	c.532delA	c.(532-534)aatfs	p.N178fs		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	178					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)				CTTCATAAATAATTTTATCTG	0.408													---	48	---	---	16	---					
SLITRK5	26050	broad.mit.edu	37	13	88330160	88330161	+	Frame_Shift_Ins	INS	-	C	C			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr13:88330160_88330161insC	uc001vln.3	+	1	2736_2737	c.2517_2518insC	c.(2515-2520)gagcccfs	p.E839fs	SLITRK5_uc010tic.1_Frame_Shift_Ins_p.E598fs|SLITRK5_uc021rlc.1_Frame_Shift_Ins_p.E839fs	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	839						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCACCATCGAGCCCCGGGAGGA	0.673													---	4	---	---	11	---					
TSHR	7253	broad.mit.edu	37	14	81609513	81609513	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr14:81609513delA	uc001xvd.1	+	9	1267	c.1111delA	c.(1111-1113)aaafs	p.K371fs		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	371					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCAGGAGCTCAAAAACCCCCA	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						---	47	---	---	13	---					
HMGN2P46	283651	broad.mit.edu	37	15	45848231	45848231	+	RNA	DEL	T	-	-			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr15:45848231delT	uc001zvn.1	+	3		c.985delT			HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript					Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA.																		TTTGTTTAGCTTTTTTTTTTT	0.323													---	7	---	---	5	---					
BRCA1	672	broad.mit.edu	37	17	41244539	41244540	+	Frame_Shift_Del	DEL	AA	-	-	rs80357617		TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:41244539_41244540delAA	uc002icq.3	-	9	3240_3241	c.3008_3009delTT	c.(3007-3009)tttfs	p.F1003fs	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Frame_Shift_Del_p.F932fs|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Frame_Shift_Del_p.F956fs|BRCA1_uc002ict.3_Frame_Shift_Del_p.F1003fs|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Frame_Shift_Del_p.F1003fs|BRCA1_uc002ide.1_Frame_Shift_Del_p.F834fs|BRCA1_uc010cyy.1_Frame_Shift_Del_p.F1003fs|BRCA1_uc010whs.1_Frame_Shift_Del_p.F1003fs|BRCA1_uc010cyz.2_Frame_Shift_Del_p.F956fs|BRCA1_uc010cza.2_Frame_Shift_Del_p.F977fs|BRCA1_uc010wht.1_Frame_Shift_Del_p.F707fs	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1003					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AATGTTCCTCAAAGTTTTCCTC	0.332			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			---	89	---	---	24	---					
ANKFN1	162282	broad.mit.edu	37	17	54428180	54428181	+	Frame_Shift_Ins	INS	-	A	A			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chr17:54428180_54428181insA	uc002iun.1	+	3	286_287	c.251_252insA	c.(250-252)tcafs	p.S84fs		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	84										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCTGTCAGTCAAAAAAACATA	0.426													---	31	---	---	17	---					
TTC3P1	286495	broad.mit.edu	37	X	74962044	74962045	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A19G-06A-11D-A196-08	TCGA-ER-A19G-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	264eec6c-54a4-47f3-923e-83c31f5cd8d9	78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e	g.chrX:74962044_74962045insT	uc022bzf.1	-	0	870_871	c.319_320insA	c.(319-321)acafs	p.T107fs						Homo sapiens tetratricopeptide repeat domain 3 pseudogene 1 (TTC3P1), non-coding RNA.											lung(13)|upper_aerodigestive_tract(2)	15						TGATTTTAGTGTTTTTTGGATT	0.292													---	8	---	---	6	---					
