Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
JAKMIP3	282973	broad.mit.edu	37	10	133930719	133930719	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:133930719G>A	ENST00000298622.4	+	2	412	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCTGTGCGTGAGACGCTGCT	0.597000													14	36					0	0	0.160694	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66524033	66524033	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:66524033C>G	ENST00000589228.1	+	8	889	c.761C>G	c.(760-762)tCt>tGt	p.S254C	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.S254C|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.S254C|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.S254C|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.S254C|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.S254C	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	254					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AGTAAAGTCTCTATTTTAGGT	0.353000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				29	77					0	0	0.153744	0	0
SPATA32	124783	broad.mit.edu	37	17	43332482	43332482	+	Splice_Site	SNP	T	T	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:43332482T>A	ENST00000543122.1	-	6	1785	c.1004_splice	c.e6+1	p.D335_splice	MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|SPATA32_ENST00000331780.4_Splice_Site_p.D356_splice|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA					spermatogenesis associated 32																		CCTCACTCACTCTTCCTTGCT	0.617000													4	54					0	0	0.150653	0	0
CNTN2	6900	broad.mit.edu	37	1	205027723	205027723	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:205027723G>A	ENST00000331830.4	+	5	703	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	140	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)			AAGGAGGAGCGAGACCCAGTG	0.622000													28	18					0	0	0.353513	0	0
CD46	4179	broad.mit.edu	37	1	207925591	207925591	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:207925591C>T	ENST00000358170.2	+	1	190	c.34C>T	c.(34-36)Cct>Tct	p.P12S	CD46_ENST00000367041.1_Missense_Mutation_p.P12S|CD46_ENST00000441839.2_Missense_Mutation_p.P12S|CD46_ENST00000361067.1_Missense_Mutation_p.P12S|CD46_ENST00000367047.1_Missense_Mutation_p.P12S|CD46_ENST00000367042.1_Missense_Mutation_p.P12S|CD46_ENST00000480003.1_Missense_Mutation_p.P12S|CD46_ENST00000322875.4_Missense_Mutation_p.P12S|CD46_ENST00000322918.5_Missense_Mutation_p.P12S|CD46_ENST00000357714.1_Missense_Mutation_p.P12S|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000360212.2_Missense_Mutation_p.P12S|CD46_ENST00000354848.1_Missense_Mutation_p.P12S	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	12					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GTGTCCCTTTCCTTCCTGGCG	0.667000													106	311					0	0	0.323286	0	0
ADCY7	113	broad.mit.edu	37	16	50325658	50325658	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:50325658C>T	ENST00000394697.2	+	4	727	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000538642.1_Silent_p.F129F|ADCY7_ENST00000537579.1_Silent_p.F129F|ADCY7_ENST00000254235.3_Silent_p.F129F|ADCY7_ENST00000566433.2_Silent_p.F129F			P51828	ADCY7_HUMAN	adenylate cyclase 7	129					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGCCCTTCTTCCTGTTCATTG	0.657000													4	19					0	0	0.217242	0	0
EFCAB5	374786	broad.mit.edu	37	17	28361326	28361326	+	Nonsense_Mutation	SNP	G	G	T	rs11365297		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:28361326G>T	ENST00000394835.3	+	8	1315	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E375*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E375*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E319*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E375*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E32*	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	375							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCTGCAGATGAATTTCGGGA	0.413000													12	38					3.07112e-06	3.15643e-06	0.080935	1	0
TTC39C	125488	broad.mit.edu	37	18	21705475	21705475	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:21705475C>G	ENST00000540918.2	+	5	710	c.460C>G	c.(460-462)Cca>Gca	p.P154A	TTC39C_ENST00000317571.3_Missense_Mutation_p.P461A|TTC39C_ENST00000304621.6_Missense_Mutation_p.P400A			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	461							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GAAAGCTCTTCCAAACTGTTC	0.463000													25	40					0	0	0.353513	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247444	55247444	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:55247444G>A	ENST00000291860.1	+	8	1132	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	372						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGACTCTGATGAACAAGA	0.542000													64	155					0	0	0.323286	0	0
ATG2B	55102	broad.mit.edu	37	14	96783494	96783494	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:96783494G>A	ENST00000359933.4	-	20	4091	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1066										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCACATCTGTGAACACTGCTA	0.323000													34	33					0	0	0.235728	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209500	140209500	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140209500G>A	ENST00000529310.1	+	1	1938	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S608S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.657000													21	46					0	0	0.204396	0	0
OR2A2	442361	broad.mit.edu	37	7	143807003	143807003	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:143807003G>C	ENST00000408979.2	+	1	397	c.328G>C	c.(328-330)Gag>Cag	p.E110Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGCTGTTACAGAGTGCCTGAT	0.443000													57	126					0	0	0.323286	0	0
DHTKD1	55526	broad.mit.edu	37	10	12155015	12155015	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:12155015C>T	ENST00000263035.4	+	13	2333	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	757					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCCGGAACTTCAGAAAACCAC	0.478000													39	84					0	0	0.312237	0	0
ZNF860	344787	broad.mit.edu	37	3	32031248	32031248	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:32031248G>C	ENST00000360311.4	+	2	1226	c.677G>C	c.(676-678)aGa>aCa	p.R226T		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GTACACATAAGAGAAAAATCT	0.308000													29	83					0	0	0.134883	0	0
POLE2	5427	broad.mit.edu	37	14	50117106	50117106	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:50117106G>C	ENST00000539565.2	-	16	1514	c.1296C>G	c.(1294-1296)gtC>gtG	p.V432V	POLE2_ENST00000554396.1_Silent_p.V458V|POLE2_ENST00000216367.5_Silent_p.V458V|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	458					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					ACACTGGGCAGACATAAAGAG	0.398000													44	20					0	0	0.301197	0	0
CNOT10	25904	broad.mit.edu	37	3	32776347	32776347	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:32776347C>A	ENST00000328834.5	+	12	1709	c.1393C>A	c.(1393-1395)Ctc>Atc	p.L465I	CNOT10_ENST00000454516.2_Missense_Mutation_p.L525I|CNOT10_ENST00000331889.6_Missense_Mutation_p.L465I|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Missense_Mutation_p.L237I	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	465					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGCCATATGTCTCAGAAATGC	0.408000													93	167					1.66795e-42	1.84383e-42	0.323286	1	0
ARHGAP6	395	broad.mit.edu	37	X	11204461	11204461	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:11204461G>C	ENST00000337414.4	-	5	2040	c.1168C>G	c.(1168-1170)Caa>Gaa	p.Q390E	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q390E|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q215E|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q187E|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q422E|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q187E|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q199E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	390					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTTTACTTTGAGCCTCAGCA	0.453000													89	32					0	0	0.323286	0	0
RELT	84957	broad.mit.edu	37	11	73101849	73101849	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:73101849C>G	ENST00000064780.2	+	4	431	c.170C>G	c.(169-171)tCa>tGa	p.S57*	RELT_ENST00000393580.2_Nonsense_Mutation_p.S57*	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	57						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGCACCTTCTCAGCTGCATGG	0.647000													22	58					0	0	0.234183	0	0
FER1L6	654463	broad.mit.edu	37	8	125078776	125078776	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:125078776G>A	ENST00000522917.1	+	27	3869	c.3663G>A	c.(3661-3663)ctG>ctA	p.L1221L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L1221L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1221						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGCCTCCCTGAAGAAAGCCC	0.483000													9	158					0	0	0.069234	0	0
LRRC16A	55604	broad.mit.edu	37	6	25450578	25450578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:25450578C>T	ENST00000329474.6	+	7	849	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	161					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGATTTTCTCAGATGTATGC	0.378000													17	14					0	0	0.175082	0	0
TIAM1	7074	broad.mit.edu	37	21	32589957	32589957	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32589957G>A	ENST00000286827.3	-	10	2525	c.2054C>T	c.(2053-2055)tCc>tTc	p.S685F	TIAM1_ENST00000541036.1_Missense_Mutation_p.S685F|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	685					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCTCGCGGATCTGGACAT	0.542000													42	75					0	0	0.268233	0	0
RNMTL1	55178	broad.mit.edu	37	17	685930	685930	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:685930G>T	ENST00000304478.4	+	1	418	c.312G>T	c.(310-312)ctG>ctT	p.L104L		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	104					RNA processing		protein binding|RNA binding|RNA methyltransferase activity	p.L104L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ACAGGAGGCTGAGGTGATGTG	0.572000													6	6					0.00116845	0.0011835	0.217242	1	0
LIN7B	64130	broad.mit.edu	37	19	49621200	49621200	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49621200G>A	ENST00000221459.2	+	5	571	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	LIN7B_ENST00000391864.3_Missense_Mutation_p.R106Q	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B (C. elegans)	176					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		TACACACCGCGAGTGCTGGAG	0.657000													34	78					0	0	0.246493	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			46	44					0	0	0.323286	0	0
N4BP3	23138	broad.mit.edu	37	5	177547335	177547335	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:177547335C>T	ENST00000274605.5	+	3	846	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	163				R -> Q (in Ref. 3; AAH53323).		cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			CCCCGGGCCCCGGGCCAGCCA	0.706000													6	9					0	0	0.217242	0	0
GCM1	8521	broad.mit.edu	37	6	52993467	52993467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:52993467G>A	ENST00000259803.7	-	6	1059	c.848C>T	c.(847-849)tCt>tTt	p.S283F		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	283						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TCCGGAGGCAGAAGGAGGAAG	0.473000													22	48					0	0	0.279207	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555448	44555448	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:44555448G>A	ENST00000289547.4	-	19	3886	c.3831C>T	c.(3829-3831)ggC>ggT	p.G1277G	NPC1L1_ENST00000546276.1_Silent_p.G1204G|NPC1L1_ENST00000381160.3_Silent_p.G1250G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1277					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CATGCAGCAGGCCCAGCAGAG	0.577000													15	30					0	0	0.132662	0	0
SYNE1	23345	broad.mit.edu	37	6	152644705	152644705	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:152644705G>C	ENST00000367255.5	-	82	16426	c.15825C>G	c.(15823-15825)acC>acG	p.T5275T	SYNE1_ENST00000423061.1_Silent_p.T5204T|SYNE1_ENST00000448038.1_Silent_p.T5204T|SYNE1_ENST00000341594.5_Silent_p.T4968T|SYNE1_ENST00000265368.4_Silent_p.T5275T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5275					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATGCTCAGGGTTTGCTGCC	0.567000										HNSCC(10;0.0054)			26	46					0	0	0.294199	0	0
GAL	51083	broad.mit.edu	37	11	68456340	68456340	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:68456340G>C	ENST00000265643.3	+	5	505	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	83					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		GTCCATACCTGAAAACAATAT	0.418000													5	28					0	0	0.184627	0	0
DLGAP5	9787	broad.mit.edu	37	14	55625316	55625316	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:55625316C>G	ENST00000247191.2	-	14	2013	c.1797G>C	c.(1795-1797)gtG>gtC	p.V599V	DLGAP5_ENST00000395425.2_Silent_p.V599V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	599					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTTTGGTATCACAGAAACTG	0.363000													30	23					0	0	0.153744	0	0
CACNA1C	775	broad.mit.edu	37	12	2774867	2774867	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:2774867G>A	ENST00000399655.1	+	36	4784	c.4519G>A	c.(4519-4521)Gaa>Aaa	p.E1507K	CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1529K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1555K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1527K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1535K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1494K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1496K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1532K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1496K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1524K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1555	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTATGACCCTGAAGCCAAGTA	0.517000													10	18					0	0	0.080935	0	0
PANX2	56666	broad.mit.edu	37	22	50616191	50616191	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:50616191C>G	ENST00000395842.2	+	2	1050	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	PANX2_ENST00000159647.5_Missense_Mutation_p.F350L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	350					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGGCCATGTTCTGCAACGAGA	0.587000													30	16					0	0	0.338820	0	0
TEX2	55852	broad.mit.edu	37	17	62290455	62290455	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:62290455C>T	ENST00000258991.3	-	2	1207	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	TEX2_ENST00000583097.1_Missense_Mutation_p.E375K|TEX2_ENST00000584379.1_Missense_Mutation_p.E375K			Q8IWB9	TEX2_HUMAN	testis expressed 2	375					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTTGTGGGCTCACCAGTGGAC	0.483000													41	109					0	0	0.246493	0	0
DPY19L3	147991	broad.mit.edu	37	19	32949405	32949405	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:32949405C>T	ENST00000342179.5	+	12	1527	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	DPY19L3_ENST00000392250.2_Missense_Mutation_p.H438Y|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.H438Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	438						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGTTGCCTTTCATAATCTCAG	0.348000													81	117					0	0	0.323286	0	0
SOS1	6654	broad.mit.edu	37	2	39262376	39262376	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:39262376G>C	ENST00000426016.1	-	9	1137	c.1051C>G	c.(1051-1053)Ctc>Gtc	p.L351V	SOS1_ENST00000402219.2_Missense_Mutation_p.L351V|SOS1_ENST00000395038.2_Missense_Mutation_p.L351V|SOS1_ENST00000428721.2_Missense_Mutation_p.L294V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	351	DH.				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|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			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)				AAGTAATGGAGACAGTGGTAA	0.313000									Noonan syndrome				3	13					0	0	0.184627	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281968	71281968	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71281968G>A	ENST00000335793.3	-	2	1066	c.672C>T	c.(670-672)atC>atT	p.I224I	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.I154I			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	224					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTTGTCCATGATGCTGAGGA	0.657000													25	72					0	0	0.353513	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206422	104206422	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:104206422G>A	ENST00000202556.9	-	12	2613	c.2331C>T	c.(2329-2331)ccC>ccT	p.P777P	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.P196P	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	777	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GTGGGGCTGTGGGCTGGGCAG	0.602000													51	32					0	0	0.323286	0	0
PPP3CB	5532	broad.mit.edu	37	10	75230956	75230956	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75230956G>A	ENST00000360663.5	-	6	792	c.681C>T	c.(679-681)ttC>ttT	p.F227F	PPP3CB_ENST00000394828.2_Silent_p.F227F|PPP3CB_ENST00000545874.1_Silent_p.F141F|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000394829.2_Silent_p.F227F|PPP3CB_ENST00000342558.3_Silent_p.F227F|PPP3CB_ENST00000394822.2_Silent_p.F245F			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	227	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GTGGCTCTTTGAATCTATCTA	0.343000													22	53					0	0	0.264190	0	0
DCDC1	341019	broad.mit.edu	37	11	30953466	30953466	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:30953466G>T	ENST00000597505.1	-	20	2748	c.2749C>A	c.(2749-2751)Ccg>Acg	p.P917T	DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	270					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGACTGCTCGGAACAAGCAGT	0.393000													16	20					2.62699e-14	2.77244e-14	0.132662	1	0
ZNF69	7620	broad.mit.edu	37	19	11998761	11998761	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11998761G>T	ENST00000429654.2	+	1	163	c.23G>T	c.(22-24)aGg>aTg	p.R8M	ZNF69_ENST00000340180.5_Missense_Mutation_p.R8M			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AGTCACAGGAGGTGTAGAGAG	0.637000													15	41					4.7546e-09	4.94322e-09	0.146539	1	0
PROS1	5627	broad.mit.edu	37	3	93646189	93646189	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:93646189C>G	ENST00000394236.3	-	2	455	c.139G>C	c.(139-141)Gaa>Caa	p.E47Q	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	47	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTGGTTTCTTCAAGTAAAGAA	0.388000													38	53					0	0	0.214465	0	0
SCRIB	23513	broad.mit.edu	37	8	144877604	144877604	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:144877604C>G	ENST00000356994.2	-	25	3706	c.3700G>C	c.(3700-3702)Gag>Cag	p.E1234Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.E1153Q|SCRIB_ENST00000320476.3_Missense_Mutation_p.E1234Q	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1234					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTGGGCCCTCAGGGCTCAGC	0.677000													4	10					0	0	0.150653	0	0
ZBTB16	7704	broad.mit.edu	37	11	113935271	113935271	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:113935271G>A	ENST00000335953.4	+	2	1629	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E417K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	417					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTGATAACGAGGCTGTGGA	0.632000													21	10					0	0	0.264190	0	0
TRANK1	9881	broad.mit.edu	37	3	36884182	36884182	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:36884182G>A	ENST00000429976.2	-	17	5326	c.5079C>T	c.(5077-5079)ttC>ttT	p.F1693F	TRANK1_ENST00000428977.2_Silent_p.F1143F|TRANK1_ENST00000463984.1_5'UTR|TRANK1_ENST00000301807.6_Silent_p.F1143F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1693					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGTCTTAACGAACATGCTAT	0.463000													10	28					0	0	0.335167	0	0
COL5A3	50509	broad.mit.edu	37	19	10104345	10104345	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:10104345C>T	ENST00000264828.3	-	18	1730	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	549	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AAGCCACGATCACCCTGTCCA	0.587000													18	47					0	0	0.160694	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511065	58511065	+	RNA	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:58511065G>A	ENST00000588627.1	-	0	2292																											ATCCTTTATTGAAATATTTTC	0.383000													12	22					0	0	0.093190	0	0
FNDC3B	64778	broad.mit.edu	37	3	172096154	172096154	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:172096154G>A	ENST00000336824.4	+	24	3202	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	FNDC3B_ENST00000415807.2_Missense_Mutation_p.E1035K|FNDC3B_ENST00000416957.1_Missense_Mutation_p.E1035K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1035	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGCAGCAAGCGAGGCTGGAGA	0.488000													50	42					0	0	0.323286	0	0
SALL1	6299	broad.mit.edu	37	16	51174620	51174620	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:51174620G>C	ENST00000440970.1	-	2	1653	c.1222C>G	c.(1222-1224)Cat>Gat	p.H408D	SALL1_ENST00000251020.4_Missense_Mutation_p.H505D|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	505					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATCTGGATATGAGGGTATTTC	0.512000													41	74					0	0	0.246493	0	0
QSER1	79832	broad.mit.edu	37	11	32953947	32953947	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:32953947G>C	ENST00000399302.2	+	4	1091	c.756G>C	c.(754-756)aaG>aaC	p.K252N	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	252	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TACAACAGAAGACCTCCCAGG	0.438000													30	46					0	0	0.163468	0	0
NR1D2	9975	broad.mit.edu	37	3	23996052	23996052	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:23996052C>G	ENST00000312521.4	+	2	360	c.41C>G	c.(40-42)tCt>tGt	p.S14C	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	14	Poly-Ser.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TATATCAGTTCTTCCAGCTCA	0.398000													57	94					0	0	0.323286	0	0
DNAJC11	55735	broad.mit.edu	37	1	6698379	6698379	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:6698379C>T	ENST00000377577.5	-	12	1422	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	DNAJC11_ENST00000294401.7_Silent_p.Q381Q|DNAJC11_ENST00000377573.5_Silent_p.Q343Q|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Silent_p.Q395Q	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	433					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTTCTTCTGCAGCACAT	0.632000													23	20					0	0	0.153744	0	0
DNAH3	55567	broad.mit.edu	37	16	20952835	20952835	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:20952835G>C	ENST00000261383.3	-	59	11541	c.11542C>G	c.(11542-11544)Ctc>Gtc	p.L3848V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3848					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCTTGGAGAGAATGTCTTGT	0.478000													56	151					0	0	0.323286	0	0
ZNF211	10520	broad.mit.edu	37	19	58153116	58153116	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:58153116G>C	ENST00000544273.1	+	5	1625	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A	ZNF211_ENST00000299871.5_Missense_Mutation_p.G486A|ZNF211_ENST00000541801.1_Missense_Mutation_p.G412A|ZNF211_ENST00000240731.4_Missense_Mutation_p.G434A|ZNF211_ENST00000347302.3_Missense_Mutation_p.G421A|ZNF211_ENST00000254182.7_Missense_Mutation_p.G412A|ZNF211_ENST00000420680.1_Missense_Mutation_p.G425A|ZNF211_ENST00000391703.3_Missense_Mutation_p.G360A			Q13398	ZN211_HUMAN	zinc finger protein 211	421						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCACACTGGAGAAAGACCC	0.478000													26	57					0	0	0.309145	0	0
USP19	10869	broad.mit.edu	37	3	49155409	49155409	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49155409G>A	ENST00000453664.1	-	3	587	c.269C>T	c.(268-270)tCc>tTc	p.S90F	USP19_ENST00000398896.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.S90F|USP19_ENST00000398888.2_Missense_Mutation_p.S90F|USP19_ENST00000398898.2_Missense_Mutation_p.S43F|USP19_ENST00000434032.2_Missense_Mutation_p.S90F|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398892.3_Missense_Mutation_p.S43F	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	90					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGAGGAGTGGATGCTGACCC	0.567000													63	43					0	0	0.323286	0	0
DDX54	79039	broad.mit.edu	37	12	113612896	113612896	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:113612896C>A	ENST00000314045.7	-	8	846	c.819G>T	c.(817-819)caG>caT	p.Q273H	DDX54_ENST00000306014.5_Missense_Mutation_p.Q273H	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	273	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGCACCGTCTGGTGGCCCC	0.657000											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	53					1.22384e-17	1.3114e-17	0.173368	1	0
C4orf40	401137	broad.mit.edu	37	4	71024438	71024438	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:71024438G>C	ENST00000344526.5	+	3	658	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E157Q	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	157	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGTTGCAGCTGAGCCTGCTGC	0.642000													43	11					0	0	0.279185	0	0
RGL3	57139	broad.mit.edu	37	19	11517470	11517470	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11517470G>A	ENST00000380456.3	-	6	771	c.708C>T	c.(706-708)ctC>ctT	p.L236L	RGL3_ENST00000393423.3_Silent_p.L236L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	236					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTTGAGGCATGAGCCCTTCCT	0.577000													22	34					0	0	0.249174	0	0
C12orf50	160419	broad.mit.edu	37	12	88381726	88381726	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:88381726G>A	ENST00000298699.2	-	9	898	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	240										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCTTTGGATGAGGACTGTCC	0.333000													24	37					0	0	0.279207	0	0
PHOX2A	401	broad.mit.edu	37	11	71952253	71952253	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:71952253C>T	ENST00000298231.5	-	2	469	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	100					noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TTGAGCTGCGCGCTGGTGAAC	0.637000													15	23					0	0	0.160694	0	0
RAP2A	5911	broad.mit.edu	37	13	98086796	98086796	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:98086796G>C	ENST00000245304.4	+	1	321	c.72G>C	c.(70-72)gtG>gtC	p.V24V		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	24					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			TGCAGTTCGTGACCGGCACCT	0.652000													34	19					0	0	0.193644	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460502	32460502	+	RNA	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:32460502G>C	ENST00000395900.1	+	0	1380				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						TCCCGGCCTCGAAGGTGCATA	0.542000													17	37					0	0	0.160694	0	0
ZNF473	25888	broad.mit.edu	37	19	50542425	50542425	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50542425T>G	ENST00000595661.1	+	4	512	c.17T>G	c.(16-18)gTg>gGg	p.V6G	ZNF473_ENST00000601364.1_Missense_Mutation_p.V6G|ZNF473_ENST00000445728.3_5'UTR|ZNF473_ENST00000391821.2_Missense_Mutation_p.V6G|ZNF473_ENST00000270617.3_Missense_Mutation_p.V6G			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	6	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGGAATTTGTGACCCTCAAG	0.577000													45	97					0	0	0.323286	0	0
GAB1	2549	broad.mit.edu	37	4	144354740	144354740	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:144354740C>T	ENST00000262995.4	+	3	891	c.464C>T	c.(463-465)tCt>tTt	p.S155F	GAB1_ENST00000505913.1_Missense_Mutation_p.S52F|GAB1_ENST00000262994.4_Missense_Mutation_p.S155F	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	155					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GATTCATCCTCTGCTACTCTA	0.483000													46	28					0	0	0.323286	0	0
CORO1C	23603	broad.mit.edu	37	12	109051145	109051145	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109051145C>T	ENST00000261401.3	-	6	857	c.685G>A	c.(685-687)Gat>Aat	p.D229N	CORO1C_ENST00000541050.1_Missense_Mutation_p.D229N|CORO1C_ENST00000549772.1_Missense_Mutation_p.D235N|CORO1C_ENST00000420959.2_Missense_Mutation_p.D282N|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Missense_Mutation_p.D124N	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	229					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.D229N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ACATTGCCATCGGCCAGGAAG	0.547000													37	54					0	0	0.193644	0	0
DDR2	4921	broad.mit.edu	37	1	162745470	162745470	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:162745470A>G	ENST00000367922.2	+	16	2323	c.1885A>G	c.(1885-1887)Atg>Gtg	p.M629V	DDR2_ENST00000367921.3_Missense_Mutation_p.M629V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	629	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GATAAAGATCATGTCTCGGCT	0.413000													12	173					0	0	0.105934	0	0
MYH7	4625	broad.mit.edu	37	14	23901905	23901905	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:23901905C>T	ENST00000355349.3	-	5	607	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	149	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCGGGGCCTCGCTCCTCTTC	0.597000													47	30					0	0	0.323286	0	0
INPP5F	22876	broad.mit.edu	37	10	121541174	121541174	+	Missense_Mutation	SNP	G	G	C	rs150684982		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:121541174G>C	ENST00000361976.2	+	3	372	c.206G>C	c.(205-207)cGg>cCg	p.R69P	INPP5F_ENST00000369083.3_Missense_Mutation_p.R69P|INPP5F_ENST00000369081.1_5'UTR	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	69							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTCTAATTCGGCAGAAAGCA	0.423000													15	41					0	0	0.132662	0	0
MST1R	4486	broad.mit.edu	37	3	49929191	49929191	+	Splice_Site	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49929191G>A	ENST00000296474.3	-	15	3379	c.3352_splice	c.e15+1	p.R1118_splice	MST1R_ENST00000344206.4_Splice_Site_p.R1069_splice	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1118	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCCACTTACGACTTAGTGAC	0.527000													49	86					0	0	0.323286	0	0
TIAM1	7074	broad.mit.edu	37	21	32513499	32513499	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32513499G>A	ENST00000286827.3	-	23	4182	c.3711C>T	c.(3709-3711)atC>atT	p.I1237I	TIAM1_ENST00000541036.1_Silent_p.I1177I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1237					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACTCTTCATGGATTTTCTGCA	0.463000													28	38					0	0	0.134883	0	0
EXOSC5	56915	broad.mit.edu	37	19	41895711	41895711	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:41895711C>G	ENST00000221233.4	-	4	634	c.484G>C	c.(484-486)Gat>Cat	p.D162H	EXOSC5_ENST00000596905.1_Missense_Mutation_p.D124H|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	162					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGGGTCCCATCAGAGTCCAGG	0.617000													49	73					0	0	0.323286	0	0
VPS53	55275	broad.mit.edu	37	17	463774	463774	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:463774G>A	ENST00000437048.2	-	15	1742	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	VPS53_ENST00000446250.2_Silent_p.L334L|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Silent_p.L503L|VPS53_ENST00000571805.1_Silent_p.L532L|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000401468.3_Silent_p.L255L	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	532					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTTCCTTGAGGAGGCTGCTGA	0.498000													3	35					0	0	0.184627	0	0
PDZRN3	23024	broad.mit.edu	37	3	73651507	73651507	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:73651507C>G	ENST00000263666.4	-	3	1030	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	PDZRN3_ENST00000308537.4_Missense_Mutation_p.E306Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	306	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCACATACCTCAATAATCCTG	0.478000													79	133					0	0	0.323286	0	0
FLG	2312	broad.mit.edu	37	1	152282183	152282183	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:152282183C>T	ENST00000368799.1	-	3	5214	c.5179G>A	c.(5179-5181)Gaa>Aaa	p.E1727K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1727	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)			TCTGACTCTTCTGAGTGTCCC	0.597000									Ichthyosis				151	465					0	0	0.323286	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777191	18777191	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:18777191G>A	ENST00000380548.4	+	19	3303	c.2964G>A	c.(2962-2964)ccG>ccA	p.P988P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	988						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGGCGGCCCGAAGGAGGCCC	0.652000													12	16					0	0	0.132662	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886199	24886199	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:24886199C>T	ENST00000382554.3	+	9	5562	c.5244C>T	c.(5242-5244)ttC>ttT	p.F1748F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1748	Integrase catalytic.				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						ACCTGGCCTTCAGGGCCTCCT	0.612000													12	9					0	0	0.080935	0	0
ATRN	8455	broad.mit.edu	37	20	3553417	3553417	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:3553417C>T	ENST00000262919.5	+	12	1979	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	ATRN_ENST00000446916.2_Silent_p.L637L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	637					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTCTCCTCCTCAGCGACATCC	0.468000													40	110					0	0	0.268233	0	0
IL16	3603	broad.mit.edu	37	15	81592437	81592437	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:81592437C>T	ENST00000394660.2	+	14	3130	c.2770C>T	c.(2770-2772)Ccc>Tcc	p.P924S	IL16_ENST00000394652.2_Missense_Mutation_p.P223S|IL16_ENST00000302987.4_Missense_Mutation_p.P924S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	924					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGAGTCCCCTCCCCCAGGGCG	0.652000													36	42					0	0	0.246493	0	0
GABRA5	2558	broad.mit.edu	37	15	27188522	27188522	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:27188522G>C	ENST00000335625.5	+	10	1926	c.1038G>C	c.(1036-1038)aaG>aaC	p.K346N	GABRA5_ENST00000400081.3_Missense_Mutation_p.K346N|GABRA5_ENST00000355395.5_Missense_Mutation_p.K346N	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	346					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTTACCAAGAGAGGCTGGG	0.522000													3	5					0	0	0.150653	0	0
C1orf87	127795	broad.mit.edu	37	1	60538268	60538268	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:60538268C>G	ENST00000371201.3	-	2	155	c.48G>C	c.(46-48)gaG>gaC	p.E16D	C1orf87_ENST00000450089.2_Missense_Mutation_p.E16D	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	16							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCACCATGATCTCAGGCATTG	0.393000													31	66					0	0	0.173368	0	0
KRT17	3872	broad.mit.edu	37	17	39780615	39780615	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:39780615G>A	ENST00000311208.8	-	1	214	c.147C>T	c.(145-147)ggC>ggT	p.G49G	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	49	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CGAGGGTGCTGCCCAGGCCGC	0.701000													12	18					0	0	0.093190	0	0
ADH1C	126	broad.mit.edu	37	4	100261734	100261734	+	RNA	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:100261734C>T	ENST00000515683.1	-	0	1313					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTACATACCTCCAAAAATAGC	0.413000													92	72					0	0	0.323286	0	0
MIA3	375056	broad.mit.edu	37	1	222802603	222802603	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:222802603G>A	ENST00000344922.5	+	4	2066	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E681K|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	681					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTCTGAGGGAGAAGCCAAAGA	0.498000													33	112					0	0	0.183431	0	0
SGCE	8910	broad.mit.edu	37	7	94230021	94230021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:94230021G>T	ENST00000415788.2	-	8	1169	c.1082C>A	c.(1081-1083)tCg>tAg	p.S361*	SGCE_ENST00000447873.1_Nonsense_Mutation_p.S325*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.S325*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.S284*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.S325*|SGCE_ENST00000265735.7_Nonsense_Mutation_p.S325*			O43556	SGCE_HUMAN	sarcoglycan, epsilon	325					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCACTGCCGAGGGCACAGC	0.433000													19	31					4.35082e-09	4.5309e-09	0.219247	1	0
EIF4A1	1973	broad.mit.edu	37	17	7481674	7481674	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:7481674G>C	ENST00000293831.8	+	11	1107	c.1091G>C	c.(1090-1092)gGa>gCa	p.G364A	EIF4A1_ENST00000577269.1_Missense_Mutation_p.W343C|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.W337C	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	364	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GGTCGAGGTGGACGGTTTGGC	0.507000													4	102					0	0	0.217242	0	0
OR8S1	341568	broad.mit.edu	37	12	48919765	48919765	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48919765G>T	ENST00000310194.1	+	1	351	c.351G>T	c.(349-351)ggG>ggT	p.G117G	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTCTCTCAGGGATGGCCTATG	0.537000													38	67					6.5261e-18	7.00498e-18	0.268233	1	0
LRFN3	79414	broad.mit.edu	37	19	36431159	36431159	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:36431159C>T	ENST00000588831.1	+	3	1886	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	LRFN3_ENST00000246529.3_Silent_p.L278L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	278	LRRCT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCACCTGCTCTGGGCGGCCG	0.711000													8	17					0	0	0.307466	0	0
TNR	7143	broad.mit.edu	37	1	175360470	175360470	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:175360470C>G	ENST00000367674.1	-	7	2169	c.1461G>C	c.(1459-1461)ctG>ctC	p.L487L	TNR_ENST00000263525.2_Silent_p.L487L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	487	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTGTTCTTTCAGAGCCACCA	0.557000													31	67					0	0	0.163468	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179365828	179365828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:179365828C>T	ENST00000234453.4	+	7	1102	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	234						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TACACTTCACCGACTCTCCCA	0.388000													57	29					0	0	0.323286	0	0
SZT2	23334	broad.mit.edu	37	1	43903370	43903370	+	Splice_Site	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:43903370C>T	ENST00000562955.1	+	44	6224	c.6225_splice	c.e44+1	p.S2075_splice	SZT2_ENST00000372442.1_Splice_Site_p.S1233_splice	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2132						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						GAGGAAGCCTCGGCATGTATC	0.592000													21	27					0	0	0.234183	0	0
ITM2C	81618	broad.mit.edu	37	2	231742261	231742261	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:231742261G>A	ENST00000326427.6	+	5	834	c.708G>A	c.(706-708)cgG>cgA	p.R236R	ITM2C_ENST00000409704.2_Silent_p.R174R|ITM2C_ENST00000335005.6_Silent_p.R189R|ITM2C_ENST00000326407.6_Silent_p.R199R	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	236					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGCAACGCGGAGGCGTGAGT	0.622000													23	26					0	0	0.134883	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20601168	20601168	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:20601168C>G	ENST00000202677.6	-	11	1482	c.1340G>C	c.(1339-1341)aGa>aCa	p.R447T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	447					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACATCTTTTCTATCTGGCTC	0.393000													31	47					0	0	0.173368	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724488	113724488	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:113724488C>G	ENST00000295878.3	-	10	1881	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E410Q	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	579										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTTCAGCTCGAGAATTGTT	0.507000													48	96					0	0	0.323286	0	0
PDE8B	8622	broad.mit.edu	37	5	76715710	76715710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:76715710G>A	ENST00000264917.5	+	19	2293	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	PDE8B_ENST00000346042.3_Missense_Mutation_p.E653K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E730K|PDE8B_ENST00000340978.3_Missense_Mutation_p.E703K|PDE8B_ENST00000505283.1_Missense_Mutation_p.E215K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E695K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	750	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AATGGCAGCTGAGGTGAGTAC	0.448000													17	33					0	0	0.219247	0	0
SEMA3B	7869	broad.mit.edu	37	3	50307782	50307782	+	RNA	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:50307782G>C	ENST00000418948.1	+	0	501							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCAGCCTGGAGAGACCCAGAG	0.637000													8	17					0	0	0.335167	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026412	27026412	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:27026412G>A	ENST00000354760.3	+	6	587	c.552G>A	c.(550-552)ccG>ccA	p.P184P	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	184	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CTCATGCCCCGACCTTCCAGG	0.597000													27	28					0	0	0.144211	0	0
SYDE1	85360	broad.mit.edu	37	19	15224468	15224468	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15224468G>A	ENST00000600252.1	+	5	2515	c.873G>A	c.(871-873)gtG>gtA	p.V291V	SYDE1_ENST00000342784.2_Silent_p.V634V|SYDE1_ENST00000600440.1_Silent_p.V567V			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	634					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCGAAGTGGTGACTCGGCCCC	0.697000													38	81					0	0	0.323286	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152198	151152198	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:151152198G>C	ENST00000367328.1	+	16	2263	c.1951G>C	c.(1951-1953)Gag>Cag	p.E651Q	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.E651Q	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	651					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTCATCCATAGAGTTGACTAT	0.453000													12	18					0	0	0.080935	0	0
MYH10	4628	broad.mit.edu	37	17	8393817	8393817	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:8393817C>G	ENST00000360416.3	-	35	4863	c.4725G>C	c.(4723-4725)atG>atC	p.M1575I	MYH10_ENST00000269243.4_Missense_Mutation_p.M1544I|MYH10_ENST00000396239.1_Missense_Mutation_p.M1565I|MYH10_ENST00000379980.4_Missense_Mutation_p.M1560I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1544					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|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						GCTGGGTCCTCATTTCCTCCA	0.557000													36	32					0	0	0.257332	0	0
ABHD3	171586	broad.mit.edu	37	18	19237110	19237110	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:19237110G>A	ENST00000578270.1	-	6	1201	c.261C>T	c.(259-261)caC>caT	p.H87H	ABHD3_ENST00000289119.2_Silent_p.H282H|ABHD3_ENST00000580981.1_Silent_p.H229H			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	282						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						ACATATGTCGGTGCCTGGAAC	0.338000													7	16					0	0	0.307466	0	0
PRSS27	83886	broad.mit.edu	37	16	2764177	2764177	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2764177G>C	ENST00000302641.3	-	4	451	c.397C>G	c.(397-399)Cca>Gca	p.P133A		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						AAGGGCACTGGTGCCTCCAGC	0.647000													23	26					0	0	0.264190	0	0
ACHE	43	broad.mit.edu	37	7	100488803	100488803	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:100488803C>T	ENST00000302913.4	-	4	1848	c.1710G>A	c.(1708-1710)ttG>ttA	p.L570L	ACHE_ENST00000412389.1_Silent_p.L570L|ACHE_ENST00000428317.1_Silent_p.L570L|ACHE_ENST00000419336.2_Silent_p.L482L|ACHE_ENST00000411582.1_Silent_p.L570L|ACHE_ENST00000241069.5_Silent_p.L570L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	570					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TGGCGCTGAGCAATTTGGGGA	0.701000													8	9					0	0	0.278610	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148867785	148867785	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:148867785G>A	ENST00000336498.3	+	15	1560	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.E90K	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	441	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AACATGCAATGAGGTGGACCT	0.383000													12	5					0	0	0.105934	0	0
EXOC6B	23233	broad.mit.edu	37	2	72562091	72562091	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:72562091G>A	ENST00000272427.6	-	20	2311	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	727					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCAAGTCGATGAAGGCCAACT	0.458000													48	33					0	0	0.323286	0	0
NUGGC	389643	broad.mit.edu	37	8	27898624	27898624	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27898624C>T	ENST00000413272.2	-	13	1697	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	NUGGC_ENST00000341513.6_Missense_Mutation_p.E519K	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		CTGACCCCTTCTTGCAGAGGC	0.567000													9	5					0	0	0.069234	0	0
TP53INP2	58476	broad.mit.edu	37	20	33297096	33297096	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:33297096C>G	ENST00000374810.3	+	4	570	c.181C>G	c.(181-183)Ccg>Gcg	p.P61A	TP53INP2_ENST00000374809.2_Missense_Mutation_p.P61A|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	61						nucleus				endometrium(1)|urinary_tract(1)	2						gggccgccctccgcccgcgcc	0.741000													7	8					0	0	0.307466	0	0
MMP24	10893	broad.mit.edu	37	20	33862274	33862274	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:33862274G>A	ENST00000246186.6	+	9	1885	c.1800G>A	c.(1798-1800)gtG>gtA	p.V600V	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	600					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGGCTCCGTGAACGCCGTGG	0.627000													37	64					0	0	0.279185	0	0
TSPYL1	7259	broad.mit.edu	37	6	116599934	116599934	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:116599934G>C	ENST00000368608.3	-	1	1132	c.1060C>G	c.(1060-1062)Cca>Gca	p.P354A	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	354					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CATATAATTGGAGTAGAAAGA	0.473000													43	98					0	0	0.301197	0	0
HUWE1	10075	broad.mit.edu	37	X	53654387	53654387	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:53654387C>T	ENST00000342160.3	-	16	1920	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	HUWE1_ENST00000262854.6_Missense_Mutation_p.G488E|HUWE1_ENST00000218328.8_Missense_Mutation_p.G488E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	488					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATTTCCTCTCCTTCTTGTGT	0.378000													40	18					0	0	0.301197	0	0
ZNF407	55628	broad.mit.edu	37	18	72344264	72344264	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:72344264G>A	ENST00000299687.5	+	1	1289	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q	ZNF407_ENST00000577538.1_Missense_Mutation_p.R430Q|ZNF407_ENST00000309902.6_Missense_Mutation_p.R430Q|ZNF407_ENST00000582337.1_Missense_Mutation_p.R430Q	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTTCGTCGACGAAGCAGCACT	0.428000													44	52					0	0	0.301197	0	0
ZNF131	7690	broad.mit.edu	37	5	43161724	43161724	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:43161724A>G	ENST00000399534.1	+	5	789	c.745A>G	c.(745-747)Att>Gtt	p.I249V	ZNF131_ENST00000306938.4_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.I249V|ZNF131_ENST00000505606.2_Intron|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	249						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGGTATTGAAATTGTGGAACT	0.403000													23	49					0	0	0.324025	0	0
IBTK	25998	broad.mit.edu	37	6	82927733	82927733	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:82927733C>G	ENST00000306270.7	-	10	1919	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A	IBTK_ENST00000503631.1_Missense_Mutation_p.G457A|IBTK_ENST00000510291.1_Missense_Mutation_p.G457A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	457					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAATCCTTCTCCATCTTGCGT	0.353000													21	32					0	0	0.249174	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150055	25150055	+	Silent	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:25150055T>G	ENST00000332271.5	-	8	1319	c.903A>C	c.(901-903)acA>acC	p.T301T	PIWIL3_ENST00000527701.1_Silent_p.T192T|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.T192T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	301	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCTGGGCAGATGTTCTCTTTA	0.388000													36	73					0	0	0.225048	0	0
ZNF214	7761	broad.mit.edu	37	11	7022289	7022289	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:7022289G>C	ENST00000278314.4	-	3	940	c.625C>G	c.(625-627)Cta>Gta	p.L209V	ZNF214_ENST00000536068.1_Missense_Mutation_p.L209V	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCTCAGTAGGTCTTCTTGA	0.398000													40	19					0	0	0.235728	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238671	57238671	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:57238671G>A	ENST00000537866.1	+	2	974	c.101G>A	c.(100-102)gGa>gAa	p.G34E	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G34E			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	34						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CTAGGGACTGGAGGTGCCGCT	0.532000													88	132					0	0	0.323286	0	0
OR8D1	283159	broad.mit.edu	37	11	124180474	124180474	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:124180474G>A	ENST00000357821.2	-	1	259	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAAGCTGCTGAGGAAATAGT	0.463000													26	24					0	0	0.294199	0	0
KANSL3	55683	broad.mit.edu	37	2	97278577	97278577	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:97278577G>C	ENST00000599854.1	-	7	1096	c.629C>G	c.(628-630)tCt>tGt	p.S210C	KANSL3_ENST00000441706.2_Missense_Mutation_p.S210C|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.S91C|KANSL3_ENST00000431828.1_Missense_Mutation_p.S297C	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	297																	GGACAGCTGAGATTGCCAGAA	0.552000													3	1					0	0	0.150653	0	0
MND1	84057	broad.mit.edu	37	4	154315459	154315459	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:154315459G>A	ENST00000240488.3	+	5	411	c.322G>A	c.(322-324)Gag>Aag	p.E108K	MND1_ENST00000504860.1_Missense_Mutation_p.E93K	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	108					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GAAAAGCATTGAGAAAGCTAA	0.353000													14	13					0	0	0.132662	0	0
ZNF555	148254	broad.mit.edu	37	19	2851477	2851477	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:2851477C>G	ENST00000334241.4	+	3	280	c.142C>G	c.(142-144)Caa>Gaa	p.Q48E	ZNF555_ENST00000591539.1_Missense_Mutation_p.Q48E|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TGATGAAACTCAATTTAAGGC	0.393000													18	25					0	0	0.175082	0	0
RTN4	57142	broad.mit.edu	37	2	55253905	55253905	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:55253905C>G	ENST00000337526.6	-	3	1573	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.D238H|RTN4_ENST00000405240.1_Missense_Mutation_p.D238H|RTN4_ENST00000404909.1_Missense_Mutation_p.D238H|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.D238H|RTN4_ENST00000354474.6_Missense_Mutation_p.D212H	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	444					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAAGAAGTATCATCATTACTA	0.398000													5	240					0	0	0.217242	0	0
USP33	23032	broad.mit.edu	37	1	78204976	78204976	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:78204976G>C	ENST00000370793.1	-	6	764	c.418C>G	c.(418-420)Cac>Gac	p.H140D	USP33_ENST00000370794.3_Missense_Mutation_p.H109D|USP33_ENST00000357428.1_Missense_Mutation_p.H140D|USP33_ENST00000370792.3_Missense_Mutation_p.H140D	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	140					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTATTTGGTGAGGTTGTCTT	0.373000													45	91					0	0	0.323286	0	0
GLOD4	51031	broad.mit.edu	37	17	685477	685477	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:685477G>A	ENST00000301329.6	-	1	104	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GLOD4_ENST00000536578.1_5'UTR|GLOD4_ENST00000301328.5_Silent_p.L7L	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	7						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACGAAGTGCAGAGCTCTGCGA	0.667000													8	8					0	0	0.278610	0	0
PIK3CD	5293	broad.mit.edu	37	1	9777022	9777022	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:9777022C>G	ENST00000377346.4	+	7	981	c.786C>G	c.(784-786)atC>atG	p.I262M	PIK3CD_ENST00000361110.2_Intron|PIK3CD_ENST00000536656.1_Intron	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	262					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)		CTCAGTACATCTGCAGCTGCC	0.662000													25	18					0	0	0.338820	0	0
KCNK5	8645	broad.mit.edu	37	6	39159321	39159321	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:39159321C>T	ENST00000359534.3	-	5	1183	c.845G>A	c.(844-846)aGc>aAc	p.S282N		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	282					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						GGAGGCTGTGCTCCCCTTCAC	0.547000													71	48					0	0	0.323286	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241000	134241000	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:134241000C>A	ENST00000535456.2	+	13	1502	c.1314C>A	c.(1312-1314)acC>acA	p.T438T	GLB1L2_ENST00000389881.3_Silent_p.T438T|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.T438T	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	438					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCAGCATCACCTCGTCTGGCA	0.527000													43	81					2.62258e-09	2.73566e-09	0.290176	1	0
GPRC6A	222545	broad.mit.edu	37	6	117150061	117150061	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:117150061C>G	ENST00000310357.3	-	1	137	c.116G>C	c.(115-117)gGa>gCa	p.G39A	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G39A|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G39A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	39					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAACAAACCTCCAATTATGAT	0.433000													22	33					0	0	0.249174	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956206	18956206	+	Silent	SNP	C	C	T	rs147529961	byFrequency	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:18956206C>T	ENST00000302797.3	-	1	350	c.126G>A	c.(124-126)ctG>ctA	p.L42L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	42					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGTTTCCTGTCAGCCCGACAA	0.562000													54	108					0	0	0.323286	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294644	110294644	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:110294644C>T	ENST00000369805.3	-	15	1639	c.1410G>A	c.(1408-1410)ctG>ctA	p.L470L	EPS8L3_ENST00000361852.4_Silent_p.L439L|EPS8L3_ENST00000361965.4_Silent_p.L469L|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	469	SH3.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGACCACAGTCAGTTCCCGTG	0.592000													42	93					0	0	0.290176	0	0
UPF1	5976	broad.mit.edu	37	19	18967806	18967806	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:18967806C>A	ENST00000262803.5	+	14	2217	c.1945C>A	c.(1945-1947)Ccc>Acc	p.P649T	UPF1_ENST00000599848.1_Missense_Mutation_p.P660T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	660					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGCATGGTTCCCGTGGTCCT	0.582000													39	63					2.54651e-27	2.79051e-27	0.246493	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756786	94756786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:94756786C>A	ENST00000554723.1	-	2	683	c.265G>T	c.(265-267)Gag>Tag	p.E89*	SERPINA10_ENST00000554173.1_Nonsense_Mutation_p.E49*|SERPINA10_ENST00000261994.4_Nonsense_Mutation_p.E49*|SERPINA10_ENST00000393096.1_Nonsense_Mutation_p.E49*			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	49					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCATCTTCCTCTTCCTCCTTG	0.617000													6	5					0.00116845	0.0011835	0.217242	1	0
CD27	939	broad.mit.edu	37	12	6554306	6554306	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:6554306G>A	ENST00000266557.3	+	1	274	c.45G>A	c.(43-45)ctG>ctA	p.L15L	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	15					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGGGGACCCTGGTGGGGCTCT	0.642000													9	15					0	0	0.069234	0	0
LRRC55	219527	broad.mit.edu	37	11	56950027	56950027	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:56950027C>T	ENST00000497933.1	+	1	807	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	190	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGGCCTTCCTCAGCCTGGAGG	0.652000													34	49					0	0	0.183431	0	0
WNT2	7472	broad.mit.edu	37	7	116918349	116918349	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:116918349T>G	ENST00000265441.3	-	5	1242	c.943A>C	c.(943-945)Acc>Ccc	p.T315P		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	315					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACATGGGAGGTGTCGTAGCCT	0.597000													10	34					0	0	0.132662	0	0
DNAH14	127602	broad.mit.edu	37	1	225155383	225155383	+	Splice_Site	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:225155383G>C	ENST00000366850.3	+	7	861	c.651_splice	c.e7-1	p.R218_splice	DNAH14_ENST00000400952.3_Intron|DNAH14_ENST00000366849.1_Intron|DNAH14_ENST00000430092.1_Intron|DNAH14_ENST00000366848.1_Splice_Site_p.R218_splice|DNAH14_ENST00000439375.2_Intron	NM_144989.2	NP_659426.2	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	0					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GTGTTTCAGAGATACTTGGTC	0.284000													22	66					0	0	0.249174	0	0
UBE3A	7337	broad.mit.edu	37	15	25599757	25599757	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:25599757C>T	ENST00000232165.3	-	10	2854	c.2198G>A	c.(2197-2199)gGt>gAt	p.G733D	UBE3A_ENST00000428984.2_Missense_Mutation_p.G713D|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.G713D|UBE3A_ENST00000566215.1_Missense_Mutation_p.G713D|UBE3A_ENST00000397954.2_Missense_Mutation_p.G736D	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	736					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CATATGAAAACCTCTCCGAAA	0.353000													34	64					0	0	0.163468	0	0
NPR3	4883	broad.mit.edu	37	5	32712159	32712159	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:32712159C>T	ENST00000265074.8	+	1	620	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.L93L|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	93					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGCGGCTTCTGCCGCCGGG	0.677000													17	41					0	0	0.160694	0	0
SPTBN4	57731	broad.mit.edu	37	19	40996095	40996095	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:40996095C>G	ENST00000352632.3	+	4	521	c.435C>G	c.(433-435)atC>atG	p.I145M	SPTBN4_ENST00000338932.3_Missense_Mutation_p.I145M|SPTBN4_ENST00000344104.3_Missense_Mutation_p.I145M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.I145M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.I145M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	145	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCATGACATCGTGGATGGGA	0.637000													26	35					0	0	0.338820	0	0
PRKACA	5566	broad.mit.edu	37	19	14203941	14203941	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:14203941C>G	ENST00000308677.4	-	10	1235	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.E339Q	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	347	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCAGAAAACTCCTTGCCACAC	0.468000													12	21					0	0	0.080935	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177203	67177203	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:67177203C>G	ENST00000312390.5	+	10	1348	c.1319C>G	c.(1318-1320)tCc>tGc	p.S440C	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.S440C|TBC1D10C_ENST00000526387.1_3'UTR	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	440	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCTCCACCTCCTTCCTGGAC	0.657000													19	22					0	0	0.204396	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597670	47597670	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:47597670C>T	ENST00000253048.5	-	3	394	c.357G>A	c.(355-357)aaG>aaA	p.K119K	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	119							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCTTCTTCGACCTCC	0.562000													137	280					0	0	0.323286	0	0
COL24A1	255631	broad.mit.edu	37	1	86252129	86252129	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:86252129G>T	ENST00000370571.2	-	48	4333	c.3967C>A	c.(3967-3969)Cca>Aca	p.P1323T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1323T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1323	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTTCTTCCTGGGCCGCCTCTG	0.463000													47	67					6.08268e-21	6.57389e-21	0.323286	1	0
APC	324	broad.mit.edu	37	5	112137026	112137026	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:112137026G>C	ENST00000457016.1	+	8	1160	c.780G>C	c.(778-780)caG>caC	p.Q260H	APC_ENST00000508376.2_Missense_Mutation_p.Q260H|APC_ENST00000257430.4_Missense_Mutation_p.Q260H			P25054	APC_HUMAN	adenomatous polyposis coli	260	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTGAGCGGCAGAATGAAGGTC	0.363000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			15	35					0	0	0.160694	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35921704	35921704	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:35921704G>A	ENST00000325722.3	-	10	1800	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	522	PKD 3.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTTCCCAAAGAGGGTGATGG	0.547000													117	172					0	0	0.323286	0	0
VRK3	51231	broad.mit.edu	37	19	50510833	50510833	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50510833G>C	ENST00000599538.1	-	5	1204	c.540C>G	c.(538-540)ctC>ctG	p.L180L	VRK3_ENST00000601912.1_Silent_p.L130L|VRK3_ENST00000594948.1_Silent_p.L180L|VRK3_ENST00000594092.1_Silent_p.L180L|VRK3_ENST00000601341.1_Silent_p.L130L|VRK3_ENST00000593919.1_Silent_p.L180L|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000377011.2_Silent_p.L130L|VRK3_ENST00000316763.3_Silent_p.L180L			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	180	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TACCTTCATAGAGAATGCCCT	0.582000													24	74					0	0	0.294199	0	0
NAGS	162417	broad.mit.edu	37	17	42084746	42084746	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:42084746C>G	ENST00000293404.3	+	5	1270	c.1152C>G	c.(1150-1152)gaC>gaG	p.D384E		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	384	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	GCAGCCTGGACAAGCTGGACC	0.662000											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	32					0	0	0.146539	0	0
HCAR3	8843	broad.mit.edu	37	12	123200745	123200745	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:123200745G>C	ENST00000528880.2	-	1	694	c.540C>G	c.(538-540)ttC>ttG	p.F180L	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	180						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GGCAGATGCTGAAGCTGATGC	0.522000													25	53					0	0	0.324025	0	0
INTS7	25896	broad.mit.edu	37	1	212161241	212161241	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:212161241G>T	ENST00000366994.3	-	8	1088	c.984C>A	c.(982-984)ttC>ttA	p.F328L	INTS7_ENST00000440600.2_Missense_Mutation_p.F279L|INTS7_ENST00000366992.3_Missense_Mutation_p.F328L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.F328L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	328					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAACTATACTGAAGTAATGTT	0.388000													18	62					2.35188e-11	2.46967e-11	0.175082	1	0
ATP6AP2	10159	broad.mit.edu	37	X	40456555	40456555	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:40456555G>C	ENST00000378438.4	+	4	513	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E43Q|ATP6AP2_ENST00000486558.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	119					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTATTTTCTGAGGAAACTCC	0.338000													33	19					0	0	0.246493	0	0
C3orf30	152405	broad.mit.edu	37	3	118865466	118865466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:118865466G>T	ENST00000295622.1	+	1	470	c.430G>T	c.(430-432)Gaa>Taa	p.E144*		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	144										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGAACTGCTGAACAGACTGA	0.488000													19	37					1.45105e-14	1.53397e-14	0.175082	1	0
AP2A1	160	broad.mit.edu	37	19	50285913	50285913	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50285913C>T	ENST00000354293.5	+	4	571	c.405C>T	c.(403-405)atC>atT	p.I135I	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000359032.5_Silent_p.I135I	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	135					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCACTGCATCGCCAACGTGG	0.647000													6	20					0	0	0.217242	0	0
COL13A1	1305	broad.mit.edu	37	10	71690269	71690269	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:71690269G>C	ENST00000356340.3	+	28	2147	c.1611G>C	c.(1609-1611)gaG>gaC	p.E537D	COL13A1_ENST00000398971.3_Missense_Mutation_p.E537D|COL13A1_ENST00000522165.1_Missense_Mutation_p.E518D|COL13A1_ENST00000398968.3_Missense_Mutation_p.E518D|COL13A1_ENST00000398974.3_Missense_Mutation_p.E525D|COL13A1_ENST00000520267.1_Missense_Mutation_p.E480D|COL13A1_ENST00000354547.3_Missense_Mutation_p.E515D|COL13A1_ENST00000520133.1_Missense_Mutation_p.E486D|COL13A1_ENST00000398972.3_Missense_Mutation_p.E537D|COL13A1_ENST00000398966.3_Missense_Mutation_p.E515D|COL13A1_ENST00000357811.3_Missense_Mutation_p.E515D|COL13A1_ENST00000517713.1_Missense_Mutation_p.E515D|COL13A1_ENST00000398973.3_Missense_Mutation_p.E537D|COL13A1_ENST00000398964.3_Missense_Mutation_p.E508D|COL13A1_ENST00000398969.3_Missense_Mutation_p.E480D|COL13A1_ENST00000398978.3_Missense_Mutation_p.E537D			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	537	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GCCCAGGAGAGAAGGGGGAAA	0.627000													13	23					0	0	0.105934	0	0
ERO1LB	56605	broad.mit.edu	37	1	236399689	236399689	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:236399689G>T	ENST00000354619.5	-	7	716	c.515C>A	c.(514-516)tCt>tAt	p.S172Y	ERO1LB_ENST00000327333.8_3'UTR	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	172					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGCAGCTGGAGATCTCTCATC	0.403000													61	144					7.91745e-34	8.72167e-34	0.323286	1	0
TRIP11	9321	broad.mit.edu	37	14	92488172	92488172	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:92488172C>G	ENST00000267622.4	-	4	689	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	106					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGGCTGATTTCTACCTATATA	0.358000			T	PDGFRB	AML								20	15					0	0	0.234183	0	0
EPHX2	2053	broad.mit.edu	37	8	27394310	27394310	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27394310G>A	ENST00000521400.1	+	13	1610	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	EPHX2_ENST00000521780.1_Missense_Mutation_p.E328K|EPHX2_ENST00000518379.1_Missense_Mutation_p.E362K|EPHX2_ENST00000517536.1_Missense_Mutation_p.E211K|EPHX2_ENST00000380476.3_Missense_Mutation_p.E341K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	394	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGGAGTGGCTGAGGCTGAACT	0.512000													30	68					0	0	0.134883	0	0
ATAD5	79915	broad.mit.edu	37	17	29185216	29185216	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:29185216G>C	ENST00000321990.4	+	9	3209	c.2831G>C	c.(2830-2832)aGa>aCa	p.R944T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	944					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGAAGTAAGAAATCTTTTG	0.303000													24	34					0	0	0.134883	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879964	53879964	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:53879964C>T	ENST00000267079.2	-	5	823	c.598G>A	c.(598-600)Gag>Aag	p.E200K	MAP3K12_ENST00000547488.1_Missense_Mutation_p.E233K|MAP3K12_ENST00000547035.1_Missense_Mutation_p.E233K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	200	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CGCAGTACCTCATACAGCTGG	0.597000													23	34					0	0	0.279207	0	0
MYO9A	4649	broad.mit.edu	37	15	72154892	72154892	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:72154892C>T	ENST00000356056.5	-	33	6512	c.6040G>A	c.(6040-6042)Gaa>Aaa	p.E2014K	MYO9A_ENST00000444904.1_Missense_Mutation_p.E1995K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E2014K|MYO9A_ENST00000424560.1_Missense_Mutation_p.E2085K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2014	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAACAGTATTCACAGTATGTA	0.358000													31	41					0	0	0.193644	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102045060	102045060	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:102045060G>C	ENST00000496391.1	+	8	1632	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	PRKRIP1_ENST00000397912.3_Missense_Mutation_p.E108Q|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.E70Q|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.E51Q|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	108	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						ATTGGATGCAGAGTTTCAGAA	0.483000											OREG0018229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	102					0	0	0.323286	0	0
AGO4	192670	broad.mit.edu	37	1	36298161	36298161	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:36298161G>C	ENST00000373210.3	+	11	1614	c.1369G>C	c.(1369-1371)Gat>Cat	p.D457H		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		ATGTAGGGAAGATTTACTAAA	0.393000													26	64					0	0	0.309145	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95087996	95087996	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:95087996G>A	ENST00000379982.3	+	5	1132	c.624G>A	c.(622-624)aaG>aaA	p.K208K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	208					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAAAAATGAAGAAAAGAAAAA	0.313000													46	96					0	0	0.323286	0	0
TARBP1	6894	broad.mit.edu	37	1	234546228	234546228	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:234546228G>C	ENST00000040877.1	-	23	3754	c.3755C>G	c.(3754-3756)tCa>tGa	p.S1252*		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1252					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTCTAAATGTGATAAAACTGC	0.259000													10	92					0	0	0.080935	0	0
SLC8A2	6543	broad.mit.edu	37	19	47960796	47960796	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:47960796C>A	ENST00000236877.6	-	3	1126	c.731G>T	c.(730-732)tGg>tTg	p.W244L	SLC8A2_ENST00000542837.1_5'UTR|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	244					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GTCGGCCATCCAGGCGAATAC	0.692000													24	35					5.61819e-17	5.98956e-17	0.324025	1	0
NEK10	152110	broad.mit.edu	37	3	27244013	27244013	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:27244013T>G	ENST00000429845.2	-	25	2488	c.2126A>C	c.(2125-2127)aAg>aCg	p.K709T	NEK10_ENST00000295720.6_Missense_Mutation_p.K21T|NEK10_ENST00000383771.4_Missense_Mutation_p.K21T|NEK10_ENST00000357467.2_Missense_Mutation_p.K106T|NEK10_ENST00000383770.3_Missense_Mutation_p.K21T			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	709	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GACATCAGCCTTCTCCCCATA	0.478000													27	35					0	0	0.338820	0	0
COPG1	22820	broad.mit.edu	37	3	128979529	128979529	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:128979529C>G	ENST00000314797.6	+	12	1111	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	336					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										GTCACAGATTCAAACCGCAGC	0.552000													33	43					0	0	0.163468	0	0
PRPF40A	55660	broad.mit.edu	37	2	153573906	153573906	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:153573906C>T	ENST00000410080.1	-	1	589	c.48G>A	c.(46-48)atG>atA	p.M16I	PRPF40A_ENST00000486100.1_5'UTR	NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	1					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCCCCGGCCTCATCGTCGGGC	0.642000													14	11					0	0	0.160694	0	0
KY	339855	broad.mit.edu	37	3	134327552	134327552	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:134327552C>G	ENST00000508956.1	-	9	1023	c.966G>C	c.(964-966)aaG>aaC	p.K322N	KY_ENST00000423778.2_Missense_Mutation_p.K343N|KY_ENST00000503669.1_Intron			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	343						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAATTCACTCTTGTGATACA	0.507000													56	75					0	0	0.323286	0	0
LTN1	26046	broad.mit.edu	37	21	30359144	30359144	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:30359144G>C	ENST00000361371.4	-	2	304	c.154C>G	c.(154-156)Caa>Gaa	p.Q52E	LTN1_ENST00000389195.2_Missense_Mutation_p.Q98E|LTN1_ENST00000389194.2_Missense_Mutation_p.Q98E	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	52							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						TCAGCTCCTTGAATAGCAGGA	0.428000													36	61					0	0	0.183431	0	0
TOPORS	10210	broad.mit.edu	37	9	32541770	32541770	+	Missense_Mutation	SNP	G	G	A	rs142671355		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:32541770G>A	ENST00000360538.2	-	3	2869	c.2753C>T	c.(2752-2754)tCt>tTt	p.S918F	TOPORS_ENST00000379858.1_Missense_Mutation_p.S853F	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	918					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTTTACTTCAGAATCCTTATC	0.378000													65	44					0	0	0.323286	0	0
FMOD	2331	broad.mit.edu	37	1	203316468	203316468	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203316468C>G	ENST00000354955.4	-	2	1394	c.931G>C	c.(931-933)Gtc>Ctc	p.V311L	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	311					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TTGGTGTTGACTGGGGGGATC	0.527000													41	133					0	0	0.323286	0	0
ECSIT	51295	broad.mit.edu	37	19	11618651	11618651	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11618651C>T	ENST00000270517.7	-	6	946	c.811G>A	c.(811-813)Gat>Aat	p.D271N	ECSIT_ENST00000592312.1_Silent_p.P201P|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000417981.2_Missense_Mutation_p.D57N	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	271					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GCCTGCTGATCGGGACTCTGG	0.632000													14	30					0	0	0.119110	0	0
C12orf71	728858	broad.mit.edu	37	12	27235188	27235188	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:27235188G>C	ENST00000429849.2	-	1	259	c.229C>G	c.(229-231)Cag>Gag	p.Q77E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	77										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GGTTCATCCTGAATTTGGTCT	0.507000													17	30					0	0	0.175082	0	0
MAGI3	260425	broad.mit.edu	37	1	114226508	114226508	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:114226508G>C	ENST00000307546.9	+	21	4393	c.4318G>C	c.(4318-4320)Gag>Cag	p.E1440Q	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1465					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAAACAAAGAGACTGGAAG	0.433000													4	14					0	0	0.150653	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121062	114121062	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:114121062G>C	ENST00000335953.4	+	7	2187	c.1807G>C	c.(1807-1809)Gag>Cag	p.E603Q	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.E603Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	603					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GAAGCCCTTTGAGTGTAAGCT	0.622000													21	23					0	0	0.279207	0	0
ESRP1	54845	broad.mit.edu	37	8	95709092	95709092	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:95709092G>C	ENST00000433389.2	+	15	2174	c.1984G>C	c.(1984-1986)Gat>Cat	p.D662H	ESRP1_ENST00000423620.2_Intron|ESRP1_ENST00000454170.2_Intron|ESRP1_ENST00000358397.5_Missense_Mutation_p.D658H	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	662					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGCAACCGAGGATGGACTTAT	0.388000													3	10					0	0	0.150653	0	0
MTA2	9219	broad.mit.edu	37	11	62365499	62365499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62365499C>A	ENST00000278823.2	-	6	876	c.487G>T	c.(487-489)Gag>Tag	p.E163*	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	163	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TGCTTACCCTCTACTAGGCGA	0.498000													58	155					7.05995e-25	7.70957e-25	0.323286	1	0
IREB2	3658	broad.mit.edu	37	15	78783062	78783062	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:78783062C>G	ENST00000258886.8	+	18	2432	c.2283C>G	c.(2281-2283)atC>atG	p.I761M		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	761							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CAGGAAGTATCGCTAGGAATA	0.398000													85	151					0	0	0.323286	0	0
VPS53	55275	broad.mit.edu	37	17	463775	463775	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:463775A>T	ENST00000437048.2	-	15	1741	c.1595T>A	c.(1594-1596)cTc>cAc	p.L532H	VPS53_ENST00000446250.2_Missense_Mutation_p.L334H|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.L503H|VPS53_ENST00000571805.1_Missense_Mutation_p.L532H|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000401468.3_Missense_Mutation_p.L255H	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	532					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTCCTTGAGGAGGCTGCTGAT	0.498000													3	35					0	0	0.150653	0	0
CDAN1	146059	broad.mit.edu	37	15	43020963	43020963	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:43020963G>C	ENST00000356231.3	-	20	2714	c.2691C>G	c.(2689-2691)ctC>ctG	p.L897L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	897						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCTGCTCTTGGAGAAGTGACT	0.607000													16	23					0	0	0.132662	0	0
JARID2	3720	broad.mit.edu	37	6	15410497	15410497	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:15410497C>T	ENST00000341776.2	+	3	468	c.224C>T	c.(223-225)tCa>tTa	p.S75L	JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.S37L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	75					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGACCAGCATCAGAACAGTCA	0.463000													114	27					0	0	0.323286	0	0
PPP1R2	5504	broad.mit.edu	37	3	195256617	195256617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:195256617C>A	ENST00000328432.3	-	2	568	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	70					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		GTGCTTGGTTCATCTATTTTC	0.373000													60	52					2.73361e-28	3.00077e-28	0.323286	1	0
LRP1	4035	broad.mit.edu	37	12	57573152	57573152	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57573152C>T	ENST00000243077.3	+	29	5245	c.4779C>T	c.(4777-4779)atC>atT	p.I1593I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1593					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGATGGAGATCCGAGGTGTGG	0.567000													13	19					0	0	0.146539	0	0
CACNA1E	777	broad.mit.edu	37	1	181689972	181689972	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:181689972C>G	ENST00000526775.1	+	15	2102	c.1937C>G	c.(1936-1938)gCc>gGc	p.A646G	CACNA1E_ENST00000357570.5_Missense_Mutation_p.A597G|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A253G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A646G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A646G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A646G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A597G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	646					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCCCTGCAGCCATCATGACT	0.433000													6	32					0	0	0.278610	0	0
C6orf120	387263	broad.mit.edu	37	6	170102948	170102948	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:170102948G>A	ENST00000332290.2	+	1	692	c.393G>A	c.(391-393)atG>atA	p.M131I	C6orf120_ENST00000439249.1_Missense_Mutation_p.M150I	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	131						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGTTCGAGATGAAGGTGTACT	0.711000													10	24					0	0	0.119110	0	0
ZNF850	342892	broad.mit.edu	37	19	37253246	37253246	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:37253246C>G	ENST00000591344.1	-	3	258	c.100G>C	c.(100-102)Gat>Cat	p.D34H	ZNF850_ENST00000589390.1_Missense_Mutation_p.D34H	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATCATTACATCTCTGTATAAG	0.453000													4	7					0	0	0.184627	0	0
ITPR3	3710	broad.mit.edu	37	6	33660555	33660555	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:33660555C>T	ENST00000374316.5	+	56	8569	c.7509C>T	c.(7507-7509)atC>atT	p.I2503I	ITPR3_ENST00000605930.1_Silent_p.I2503I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2503					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCTTCTTCATCGTCATCATCA	0.537000													32	35					0	0	0.193644	0	0
ZNF99	7652	broad.mit.edu	37	19	22940553	22940553	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:22940553G>C	ENST00000397104.3	-	5	1884	c.1885C>G	c.(1885-1887)Ctt>Gtt	p.L629V	ZNF99_ENST00000596209.1_Missense_Mutation_p.L720V					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTTCTAAGAGTTGAGGAC	0.363000													24	49					0	0	0.279207	0	0
INHBE	83729	broad.mit.edu	37	12	57850383	57850383	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57850383G>A	ENST00000266646.2	+	2	1021	c.805G>A	c.(805-807)Gag>Aag	p.E269K	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	269					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						ACTGCAGCCCGAGGGGTACCA	0.612000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	48					0	0	0.193644	0	0
SNX27	81609	broad.mit.edu	37	1	151630748	151630748	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:151630748C>G	ENST00000368843.3	+	3	701	c.581C>G	c.(580-582)tCt>tGt	p.S194C	SNX27_ENST00000458013.2_Missense_Mutation_p.S194C|SNX27_ENST00000368838.1_Missense_Mutation_p.S101C	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	194	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCTGTGTTCTAAGCGGTAC	0.408000													61	252					0	0	0.323286	0	0
RNF213	57674	broad.mit.edu	37	17	78348306	78348306	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:78348306G>A	ENST00000582970.1	+	50	13134	c.12991G>A	c.(12991-12993)Ggc>Agc	p.G4331S	RNF213_ENST00000508628.2_Missense_Mutation_p.G4380S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G2404S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGGTGTACGGCGATGAATA	0.562000													22	69					0	0	0.234183	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444203	84444203	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:84444203C>T	ENST00000416219.2	+	5	536	c.447C>T	c.(445-447)ttC>ttT	p.F149F	ATP2C2_ENST00000262429.4_Silent_p.F149F|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	149					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGTCGCCTTCATCCAGGTGA	0.582000													46	38					0	0	0.323286	0	0
NR5A2	2494	broad.mit.edu	37	1	200143123	200143123	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:200143123G>C	ENST00000367362.3	+	8	1657	c.1411G>C	c.(1411-1413)Gaa>Caa	p.E471Q	NR5A2_ENST00000544748.1_Missense_Mutation_p.E399Q|NR5A2_ENST00000236914.3_Missense_Mutation_p.E425Q	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	471					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCAGCTGGTAGAAGGTGTCCA	0.393000													3	15					0	0	0.115264	0	0
CCDC107	203260	broad.mit.edu	37	9	35660595	35660595	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:35660595G>C	ENST00000426546.2	+	4	427	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378407.3_Missense_Mutation_p.E121Q|CCDC107_ENST00000378406.1_Missense_Mutation_p.E121Q|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000327351.2_Missense_Mutation_p.E121Q|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.E121Q	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	121						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCAGACAGAGCAGCACCT	0.527000													23	44					0	0	0.294199	0	0
GUSB	2990	broad.mit.edu	37	7	65439419	65439419	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:65439419G>A	ENST00000304895.4	-	8	1384	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	GUSB_ENST00000345660.6_Silent_p.F367F|GUSB_ENST00000421103.1_Silent_p.F272F	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	418					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AAACGTTGTTGAAGAACTGCC	0.632000													35	47					0	0	0.214465	0	0
ZNF462	58499	broad.mit.edu	37	9	109687761	109687761	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:109687761C>G	ENST00000277225.5	+	3	1857	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	ZNF462_ENST00000457913.1_Nonsense_Mutation_p.S523*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	523					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATGAGAGCTCAAGCATCAAT	0.532000													18	17					0	0	0.204396	0	0
CASZ1	54897	broad.mit.edu	37	1	10707968	10707968	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:10707968C>T	ENST00000377022.3	-	16	3704	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	CASZ1_ENST00000344008.5_Missense_Mutation_p.M1129I|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1129	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGATCTGAGGCATCTGGGGTA	0.667000													32	15					0	0	0.183431	0	0
CXorf38	159013	broad.mit.edu	37	X	40496291	40496291	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:40496291C>G	ENST00000378426.1	-	3	829	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	CXorf38_ENST00000378421.1_Missense_Mutation_p.E78Q|CXorf38_ENST00000327877.5_Missense_Mutation_p.E197Q|CXorf38_ENST00000440784.2_Missense_Mutation_p.E112Q			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	197										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GCCACAATCTCTGGGATGTTC	0.368000													30	11					0	0	0.163468	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710402	140710402	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140710402G>A	ENST00000517417.1	+	1	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D51N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCGCCAAGGACCTAGGGCT	0.557000													31	89					0	0	0.183431	0	0
NEB	4703	broad.mit.edu	37	2	152507244	152507244	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:152507244G>A	ENST00000427231.2	-	53	7273	c.7071C>T	c.(7069-7071)ttC>ttT	p.F2357F	NEB_ENST00000409198.1_Silent_p.F2357F|NEB_ENST00000397345.3_Silent_p.F2357F|NEB_ENST00000603639.1_Silent_p.F2357F|NEB_ENST00000172853.10_Silent_p.F2357F|NEB_ENST00000604864.1_Silent_p.F2357F	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2357					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGGCTGGAGAACTTAGTTT	0.458000													135	108					0	0	0.323286	0	0
USP47	55031	broad.mit.edu	37	11	11924275	11924275	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:11924275G>A	ENST00000339865.5	+	5	1166	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.E203K|USP47_ENST00000399455.2_Missense_Mutation_p.E223K	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	223					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGAATTTGAAGAATCTGAAGA	0.259000													22	11					0	0	0.234183	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861873	67861873	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67861873C>G	ENST00000388833.3	+	16	2331	c.1954C>G	c.(1954-1956)Cga>Gga	p.R652G	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R706G|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R637G	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	652					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGTGGGACCTCGAGAGCCAGA	0.537000													36	74					0	0	0.225048	0	0
PDCD2L	84306	broad.mit.edu	37	19	34904736	34904736	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:34904736C>G	ENST00000246535.3	+	5	828	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	261						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCTGCTTGTCAGGAGCAGAT	0.328000													11	31					0	0	0.093190	0	0
SV2A	9900	broad.mit.edu	37	1	149878401	149878401	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149878401G>C	ENST00000369146.3	-	11	2176	c.1686C>G	c.(1684-1686)ttC>ttG	p.F562L	SV2A_ENST00000369145.1_Missense_Mutation_p.F562L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	562					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACTTGTACTCGAACAGGTCTG	0.537000													16	46					0	0	0.132662	0	0
ZNF99	7652	broad.mit.edu	37	19	22952052	22952052	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:22952052C>A	ENST00000397104.3	-	2	140	c.141G>T	c.(139-141)caG>caT	p.Q47H	ZNF99_ENST00000596209.1_Missense_Mutation_p.Q26H					zinc finger protein 99									p.Q47H(1)|p.Q47Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATATAAATTCTGCTGAGCCA	0.383000													41	74					5.44703e-19	5.87681e-19	0.279185	1	0
CRELD1	78987	broad.mit.edu	37	3	9984547	9984547	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:9984547T>C	ENST00000383811.3	+	7	1383	c.784T>C	c.(784-786)Tgc>Cgc	p.C262R	CRELD1_ENST00000452070.1_Missense_Mutation_p.C262R|CRELD1_ENST00000397170.3_Missense_Mutation_p.C262R|CRELD1_ENST00000326434.5_Missense_Mutation_p.C262R|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	262					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGACCAATTCTGCGTGAACAC	0.542000													32	47					0	0	0.183431	0	0
ZMYND11	10771	broad.mit.edu	37	10	294371	294371	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:294371G>A	ENST00000309776.4	+	13	1751	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	ZMYND11_ENST00000535374.1_Silent_p.K236K|ZMYND11_ENST00000397959.3_Silent_p.K356K|ZMYND11_ENST00000545619.1_Silent_p.K321K|ZMYND11_ENST00000381604.4_Silent_p.K401K|ZMYND11_ENST00000381591.1_Silent_p.K441K|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381584.1_Silent_p.K424K|ZMYND11_ENST00000403354.1_Silent_p.K361K|ZMYND11_ENST00000397962.3_Silent_p.K441K|ZMYND11_ENST00000381607.4_Silent_p.K347K|ZMYND11_ENST00000558098.2_Silent_p.K441K|ZMYND11_ENST00000402736.1_Silent_p.K410K|ZMYND11_ENST00000509513.2_Silent_p.K440K|ZMYND11_ENST00000602682.1_Silent_p.K356K|ZMYND11_ENST00000381602.4_Silent_p.K401K	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	401					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCAGACAAAGAAGTTAAGTG	0.488000													48	66					0	0	0.323286	0	0
PUS3	83480	broad.mit.edu	37	11	125765351	125765351	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:125765351G>C	ENST00000227474.3	-	3	809	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	PUS3_ENST00000530811.1_Missense_Mutation_p.Q238E|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	238						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		ATAGTCCTCTGAAAATTAATC	0.443000													33	19					0	0	0.153744	0	0
TAP1	6890	broad.mit.edu	37	6	32815407	32815407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:32815407G>A	ENST00000354258.4	-	9	2127	c.1966C>T	c.(1966-1968)Caa>Taa	p.Q656*	TAP1_ENST00000425148.2_Nonsense_Mutation_p.Q395*|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	656	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						ATATTTTCTTGAAGACTTCTT	0.468000													26	15					0	0	0.309145	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177168	67177168	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:67177168C>G	ENST00000312390.5	+	10	1313	c.1284C>G	c.(1282-1284)atC>atG	p.I428M	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.I428M|TBC1D10C_ENST00000526387.1_3'UTR	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	428	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCCCCCATCGAGGGGCCCC	0.682000													11	25					0	0	0.119110	0	0
STAT2	6773	broad.mit.edu	37	12	56742395	56742395	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:56742395G>T	ENST00000314128.4	-	19	1665	c.1642C>A	c.(1642-1644)Cct>Act	p.P548T	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.P544T			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	548					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AACTTGCCAGGAGGGCTCTCT	0.527000													35	52					2.42023e-17	2.58459e-17	0.183431	1	0
SLC9C2	284525	broad.mit.edu	37	1	173545823	173545823	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:173545823C>T	ENST00000367714.3	-	8	1301	c.879G>A	c.(877-879)ccG>ccA	p.P293P	SLC9C2_ENST00000536496.1_Silent_p.P191P|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	293					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.P293P(1)									GTTCGATCTTCGGTTTAAAAG	0.403000													12	34					0	0	0.105934	0	0
PNISR	25957	broad.mit.edu	37	6	99856061	99856061	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:99856061C>T	ENST00000369239.5	-	7	964	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	PNISR_ENST00000438806.1_Missense_Mutation_p.E254K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	254						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCATTCTTTCTTTCTCCAAT	0.443000													52	68					0	0	0.323286	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22148095	22148095	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:22148095G>C	ENST00000344642.2	+	4	983	c.796G>C	c.(796-798)Gct>Cct	p.A266P	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.A266P|LDLRAD2_ENST00000484271.1_3'UTR	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	266						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACAAGACGCAGCTTTGGAAGG	0.602000													39	64					0	0	0.290176	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38347604	38347604	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:38347604G>A	ENST00000436615.3	+	9	1244	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.G301S|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.G252S|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.G307S	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	458					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGGGGAGCGCGGCCGCCGGGA	0.711000													9	9					0	0	0.335167	0	0
SHMT2	6472	broad.mit.edu	37	12	57626334	57626334	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57626334C>G	ENST00000328923.3	+	6	1145	c.693C>G	c.(691-693)ctC>ctG	p.L231L	SHMT2_ENST00000553474.1_Silent_p.L210L|SHMT2_ENST00000414700.3_Silent_p.L210L|SHMT2_ENST00000557487.1_Silent_p.L221L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Silent_p.L210L|SHMT2_ENST00000393827.4_Silent_p.L135L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	231						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ATGCTCGCCTCATTGACTACG	0.632000													46	90					0	0	0.323286	0	0
SMCHD1	23347	broad.mit.edu	37	18	2700762	2700762	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:2700762G>C	ENST00000320876.6	+	12	1831	c.1493G>C	c.(1492-1494)aGa>aCa	p.R498T	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R498T|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	498					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCTAAGAAGAGAGGGCTTGCA	0.338000													24	31					0	0	0.264190	0	0
TAF5	6877	broad.mit.edu	37	10	105139422	105139422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:105139422G>T	ENST00000369839.3	+	4	1194	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	TAF5_ENST00000351396.4_Nonsense_Mutation_p.E391*	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	391					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGACGAGGATGAAGAGGGAGA	0.328000													11	23					3.27435e-08	3.38188e-08	0.119110	1	0
GRIK5	2901	broad.mit.edu	37	19	42558072	42558072	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42558072C>G	ENST00000262895.3	-	9	1065	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	GRIK5_ENST00000593562.1_Missense_Mutation_p.D356H|GRIK5_ENST00000301218.4_Missense_Mutation_p.D356H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	356						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTCAGCCCATCATACTCTACC	0.617000													12	17					0	0	0.132662	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532108	140532108	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140532108C>G	ENST00000231136.1	+	1	2270	c.2270C>G	c.(2269-2271)tCa>tGa	p.S757*	PCDHB6_ENST00000543635.1_Nonsense_Mutation_p.S621*	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		757					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGGAGGCTCAGAAACAAAT	0.562000													67	101					0	0	0.323286	0	0
PHLPP1	23239	broad.mit.edu	37	18	60642822	60642822	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:60642822G>A	ENST00000400316.4	+	16	4193	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	PHLPP1_ENST00000262719.5_Silent_p.L1316L	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1316					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AAGAAGAGCTGAAGAGGATTA	0.502000													51	87					0	0	0.323286	0	0
EPHB6	2051	broad.mit.edu	37	7	142561964	142561964	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:142561964G>A	ENST00000392957.2	+	7	1193	c.406G>A	c.(406-408)Gag>Aag	p.E136K	EPHB6_ENST00000442129.1_Missense_Mutation_p.E136K|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	136						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCGTCAGGCTGAGGAGCCCGA	0.622000													31	50					0	0	0.153744	0	0
UPF1	5976	broad.mit.edu	37	19	18956861	18956861	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:18956861G>A	ENST00000262803.5	+	2	576	c.304G>A	c.(304-306)Gag>Aag	p.E102K	UPF1_ENST00000599848.1_Missense_Mutation_p.E102K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	102	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTTGTTGGCTGAGTTGAACTT	0.577000													23	26					0	0	0.309145	0	0
PABPC1L	80336	broad.mit.edu	37	20	43566728	43566728	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:43566728G>A	ENST00000372824.1	+	4	1852	c.334G>A	c.(334-336)Gat>Aat	p.D112N	PABPC1L_ENST00000372819.1_Missense_Mutation_p.D112N|PABPC1L_ENST00000217073.2_Missense_Mutation_p.D558N|PABPC1L_ENST00000255136.3_Missense_Mutation_p.D558N|PABPC1L_ENST00000217075.2_Missense_Mutation_p.D112N|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	558	RRM 2.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCTTATCCATGATGTCCACAC	0.572000													21	29					0	0	0.204396	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245833	137245833	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:137245833G>C	ENST00000331858.4	+	2	1415	c.1250G>C	c.(1249-1251)tGa>tCa	p.*417S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	0					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCCAGTCCTTGAGAAGGAGGT	0.408000													25	34					0	0	0.294199	0	0
NUP43	348995	broad.mit.edu	37	6	150052833	150052833	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:150052833G>C	ENST00000340413.2	-	7	905	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	NUP43_ENST00000460354.2_Missense_Mutation_p.L277V|NUP43_ENST00000367404.4_Missense_Mutation_p.L181V|NUP43_ENST00000367403.3_3'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	277					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CAGGTAAAAAGATGTTCTGGG	0.423000													15	27					0	0	0.146539	0	0
STOX1	219736	broad.mit.edu	37	10	70645407	70645407	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:70645407G>A	ENST00000298596.6	+	3	1938	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	STOX1_ENST00000421961.2_Missense_Mutation_p.E509K|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.E619K	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	619						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGTAATTCCTGAAGTCTTGAG	0.443000													27	80					0	0	0.324025	0	0
CPEB3	22849	broad.mit.edu	37	10	93902855	93902855	+	Missense_Mutation	SNP	G	G	A	rs141047227		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:93902855G>A	ENST00000412050.4	-	6	1430	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	CPEB3_ENST00000265997.4_Missense_Mutation_p.R462C	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	462	RRM 1.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CCAAACCTGCGAAAGCTGGCA	0.388000													27	46					0	0	0.324025	0	0
RYR1	6261	broad.mit.edu	37	19	38976417	38976417	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:38976417G>A	ENST00000355481.4	+	34	5253	c.5122G>A	c.(5122-5124)Gca>Aca	p.A1708T	RYR1_ENST00000360985.3_Missense_Mutation_p.A1708T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1708T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1708	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCACTGCGCGCAGGCTACTA	0.647000													25	44					0	0	0.294199	0	0
IFNGR2	3460	broad.mit.edu	37	21	34787221	34787221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:34787221C>T	ENST00000290219.6	+	2	748	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	IFNGR2_ENST00000405436.1_5'UTR|IFNGR2_ENST00000381995.1_Nonsense_Mutation_p.Q53*	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	34	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GCCCGCTCCTCAGCACCCGAA	0.527000													15	16					0	0	0.119110	0	0
MUC16	94025	broad.mit.edu	37	19	9066076	9066076	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:9066076G>A	ENST00000397910.4	-	3	21573	c.21370C>T	c.(21370-21372)Ctt>Ttt	p.L7124F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7126	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						GTCACAGGAAGAGGAGAGGAG	0.517000													35	89					0	0	0.193644	0	0
WASF2	10163	broad.mit.edu	37	1	27755376	27755376	+	Missense_Mutation	SNP	C	C	T	rs151177492		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:27755376C>T	ENST00000430629.2	-	2	240	c.25G>A	c.(25-27)Gag>Aag	p.E9K	WASF2_ENST00000536657.1_Missense_Mutation_p.E9K	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	9					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGCCTTGGCTCGATGTTCCTC	0.488000													30	26					0	0	0.144211	0	0
MND1	84057	broad.mit.edu	37	4	154318395	154318395	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:154318395G>C	ENST00000240488.3	+	6	465	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	MND1_ENST00000504860.1_Missense_Mutation_p.E111Q	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	126					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GCTAGCAAAAGAGCTTTCTTC	0.358000													6	3					0	0	0.248553	0	0
KCNH7	90134	broad.mit.edu	37	2	163250937	163250937	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:163250937C>T	ENST00000332142.5	-	12	2771	c.2672G>A	c.(2671-2673)aGa>aAa	p.R891K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	891					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTCCTTCTTCTTAGTTTACA	0.333000													30	19					0	0	0.134883	0	0
SUSD4	55061	broad.mit.edu	37	1	223438081	223438081	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:223438081C>T	ENST00000343846.3	-	4	1248	c.615G>A	c.(613-615)gtG>gtA	p.V205V	SUSD4_ENST00000366878.4_Silent_p.V205V|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000344029.6_Silent_p.V205V|SUSD4_ENST00000454695.2_Silent_p.V45V			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	205	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GATAGGAGATCACAGTCCCCA	0.512000													46	117					0	0	0.323286	0	0
STX5	6811	broad.mit.edu	37	11	62575026	62575026	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62575026G>T	ENST00000294179.3	-	11	1136	c.983C>A	c.(982-984)tCt>tAt	p.S328Y	STX5_ENST00000541317.1_Missense_Mutation_p.S232Y|STX5_ENST00000377897.4_3'UTR|STX5_ENST00000394690.1_Missense_Mutation_p.S274Y	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	328					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GGAGGTGACAGACTGGAAGTA	0.532000													14	24					7.93312e-07	8.16683e-07	0.119110	1	0
COPA	1314	broad.mit.edu	37	1	160309718	160309718	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:160309718C>G	ENST00000241704.7	-	3	438	c.209G>C	c.(208-210)gGa>gCa	p.G70A	COPA_ENST00000368069.3_Missense_Mutation_p.G70A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	70					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATAGTCATCTCCTCCAGAGAC	0.458000													63	219					0	0	0.323286	0	0
GJA8	2703	broad.mit.edu	37	1	147381142	147381142	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:147381142G>A	ENST00000240986.4	+	2	1113	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	GJA8_ENST00000369235.1_Missense_Mutation_p.E354K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	354					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGAGGAAGCAGAGAGGCTGAC	0.632000													5	20					0	0	0.184627	0	0
ZNF547	284306	broad.mit.edu	37	19	57888534	57888534	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:57888534G>C	ENST00000282282.3	+	4	340	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCACCTTTAGAGCCAGGTGT	0.507000													22	38					0	0	0.264190	0	0
OR8I2	120586	broad.mit.edu	37	11	55860932	55860932	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:55860932G>A	ENST00000302124.2	+	1	180	c.149G>A	c.(148-150)aGa>aAa	p.R50K	OR8I2_ENST00000560768.1_Missense_Mutation_p.R50K			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACGTTAATCAGAATGGATTCT	0.373000													95	155					0	0	0.323286	0	0
RADIL	55698	broad.mit.edu	37	7	4862113	4862113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:4862113C>T	ENST00000399583.3	-	6	1714	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	RADIL_ENST00000538469.1_Nonsense_Mutation_p.W269*|RADIL_ENST00000536091.1_Intron	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	509	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGTTAGACATCCAGAAAAGAA	0.537000													12	42					0	0	0.093190	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246753	43246753	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:43246753C>A	ENST00000307275.3	+	4	874	c.438C>A	c.(436-438)ttC>ttA	p.F146L	RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.F146L|HEXIM2_ENST00000591576.1_Missense_Mutation_p.F146L	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	146					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						CCACCCAGTTCCTGATGAATG	0.632000													18	29					2.39187e-15	2.53708e-15	0.204396	1	0
MED11	400569	broad.mit.edu	37	17	4636382	4636382	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:4636382C>G	ENST00000293777.5	+	3	310	c.254C>G	c.(253-255)tCt>tGt	p.S85C	MED11_ENST00000575284.1_3'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	85					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						TCCAGCTACTCTTCGAGGAAG	0.552000													35	19					0	0	0.193644	0	0
CCDC64	92558	broad.mit.edu	37	12	120518755	120518755	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:120518755C>T	ENST00000397558.2	+	7	1373	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	CCDC64_ENST00000257583.4_Missense_Mutation_p.S155F|CCDC64_ENST00000446727.2_Missense_Mutation_p.S129F	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	458					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAGTCACTTCTGAGGACAAG	0.498000													21	34					0	0	0.279207	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938448	183938448	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:183938448T>C	ENST00000361927.4	-	5	1158	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	COLGALT2_ENST00000546159.1_Missense_Mutation_p.T263A	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		TCATCAAAGGTCCAGGTGTAG	0.527000													27	94					0	0	0.134883	0	0
AHR	196	broad.mit.edu	37	7	17379231	17379231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:17379231C>G	ENST00000242057.4	+	10	2425	c.1782C>G	c.(1780-1782)ttC>ttG	p.F594L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	594					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AGTCTCCCTTCATACCTTCAG	0.403000													51	79					0	0	0.323286	0	0
CCDC113	29070	broad.mit.edu	37	16	58301439	58301439	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:58301439G>T	ENST00000219299.4	+	7	919	c.840G>T	c.(838-840)ctG>ctT	p.L280L	CCDC113_ENST00000443128.2_Silent_p.L226L	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	280						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGATCTTGCTGAGAAAAGAGC	0.383000													32	53					1.56442e-22	1.70246e-22	0.163468	1	0
ZNF432	9668	broad.mit.edu	37	19	52537236	52537236	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:52537236C>G	ENST00000594154.1	-	5	1908	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	ZNF432_ENST00000221315.5_Missense_Mutation_p.E566Q			O94892	ZN432_HUMAN	zinc finger protein 432	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAAGATTTCTCTTCTGTATGA	0.398000													39	87					0	0	0.268233	0	0
MCM4	4173	broad.mit.edu	37	8	48885504	48885504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:48885504G>C	ENST00000262105.2	+	13	2225	c.2016G>C	c.(2014-2016)caG>caC	p.Q672H	MCM4_ENST00000523944.1_Missense_Mutation_p.Q672H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	672					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.Q672H(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTACTACCAGAGCGAGGAGC	0.552000													14	28					0	0	0.146539	0	0
MAGOH	4116	broad.mit.edu	37	1	53692756	53692756	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:53692756G>A	ENST00000371470.3	-	5	563	c.402C>T	c.(400-402)ttC>ttT	p.F134F	MAGOH_ENST00000371466.4_Silent_p.F97F	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	134					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						CAATAAGACTGAAGACCAAAC	0.373000													6	14					0	0	0.248553	0	0
PSCA	8000	broad.mit.edu	37	8	143763453	143763453	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:143763453G>A	ENST00000301258.4	+	3	331	c.248G>A	c.(247-249)tGc>tAc	p.C83Y		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	83										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCGACTTGTGCAACGCCAGC	0.627000													14	23					0	0	0.119110	0	0
NT5C	30833	broad.mit.edu	37	17	73127368	73127368	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73127368C>T	ENST00000245552.2	-	2	270	c.183G>A	c.(181-183)gtG>gtA	p.V61V	NT5C_ENST00000582160.1_5'UTR|NT5C_ENST00000578337.1_5'UTR|NT5C_ENST00000582170.1_Silent_p.V61V|NT5C_ENST00000579082.1_5'UTR	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	61					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			ACACACTGGCCACTTTATCCT	0.652000													7	21					0	0	0.278610	0	0
ALPL	249	broad.mit.edu	37	1	21903031	21903031	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:21903031G>A	ENST00000374840.3	+	11	1456	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ALPL_ENST00000374832.1_Silent_p.L402L|ALPL_ENST00000425315.2_Silent_p.L402L|ALPL_ENST00000374829.1_Silent_p.L48L|ALPL_ENST00000374830.1_Silent_p.L48L|ALPL_ENST00000540617.1_Silent_p.L347L|ALPL_ENST00000539907.1_Silent_p.L325L	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	402					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCCCCATGCTGAGTGACACAG	0.607000													49	65					0	0	0.323286	0	0
NPHP3	27031	broad.mit.edu	37	3	132423059	132423059	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132423059C>G	ENST00000326682.8	-	9	1583	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	NPHP3_ENST00000337331.5_Missense_Mutation_p.E503Q			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	503					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATCCCAACTCATGGGCTGAA	0.363000													95	106					0	0	0.323286	0	0
ELP3	55140	broad.mit.edu	37	8	27967950	27967950	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27967950G>C	ENST00000256398.8	+	6	834	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	ELP3_ENST00000380353.4_Missense_Mutation_p.E61Q|ELP3_ENST00000542181.1_Missense_Mutation_p.E24Q|ELP3_ENST00000524103.1_Missense_Mutation_p.E81Q|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000537665.1_Missense_Mutation_p.E34Q|ELP3_ENST00000521015.1_Missense_Mutation_p.E139Q	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	153					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACACCGAATAGAACAGGTACA	0.343000													31	59					0	0	0.183431	0	0
SDK2	54549	broad.mit.edu	37	17	71415334	71415334	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71415334C>G	ENST00000392650.3	-	16	2157	c.2157G>C	c.(2155-2157)caG>caC	p.Q719H	SDK2_ENST00000388726.3_Missense_Mutation_p.Q719H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	719	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAATTCCATTCTGGTGGCTCT	0.617000													7	17					0	0	0.278610	0	0
IRAK2	3656	broad.mit.edu	37	3	10264363	10264363	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:10264363C>T	ENST00000256458.4	+	9	1147	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	353	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAAACTTGCTCACCCAATGGC	0.473000													68	111					0	0	0.323286	0	0
MYH9	4627	broad.mit.edu	37	22	36684376	36684376	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:36684376G>A	ENST00000216181.5	-	34	5084	c.4854C>T	c.(4852-4854)gaC>gaT	p.D1618D		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1618					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGTCCTTCAGGTCCATCTCCA	0.642000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				17	61					0	0	0.219247	0	0
IFT172	26160	broad.mit.edu	37	2	27712512	27712512	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:27712512C>T	ENST00000260570.3	-	1	112	c.9G>A	c.(7-9)ttG>ttA	p.L3L	IFT172_ENST00000416524.2_5'UTR|IFT172_ENST00000359466.6_Silent_p.L3L	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	3					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCAGGTGCTTCAAGTGCATGA	0.562000													26	12					0	0	0.324025	0	0
PVR	5817	broad.mit.edu	37	19	45161157	45161157	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:45161157G>A	ENST00000425690.3	+	5	1269	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PVR_ENST00000406449.4_Missense_Mutation_p.E324K|PVR_ENST00000403059.4_Missense_Mutation_p.E324K|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.E324K	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	324	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCGCCAGGCAGAACTGACCGT	0.572000											OREG0025540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	25					0	0	0.093190	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205277	61205277	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:61205277G>A	ENST00000301761.2	+	2	291	c.217G>A	c.(217-219)Gag>Aag	p.E73K	SDHAF2_ENST00000537782.1_Missense_Mutation_p.E73K|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000534878.1_Missense_Mutation_p.E73K|SDHAF2_ENST00000543265.1_Missense_Mutation_p.E73K|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.E61K|SDHAF2_ENST00000542074.1_Intron	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	73					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CCTGCTCTATGAGAGCAGAAA	0.458000													38	77					0	0	0.257332	0	0
CCDC36	339834	broad.mit.edu	37	3	49278740	49278740	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49278740C>T	ENST00000438782.1	+	4	549	c.313C>T	c.(313-315)Cct>Tct	p.P105S	CCDC36_ENST00000366429.2_Missense_Mutation_p.P105S|CCDC36_ENST00000296449.5_Missense_Mutation_p.P105S|CCDC36_ENST00000452691.2_Missense_Mutation_p.P105S|CCDC36_ENST00000451634.2_Missense_Mutation_p.P95S			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	105										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTTATTTCCTCCTCCTTTGTC	0.383000													15	33					0	0	0.132662	0	0
PERP	64065	broad.mit.edu	37	6	138428475	138428475	+	Translation_Start_Site	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:138428475C>A	ENST00000421351.3	-	1	173	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	1					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CGCAGCGGATCATGTTGACGG	0.756000													20	35					2.39187e-15	2.53708e-15	0.204396	1	0
OR8S1	341568	broad.mit.edu	37	12	48919697	48919697	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48919697G>A	ENST00000310194.1	+	1	283	c.283G>A	c.(283-285)Gag>Aag	p.E95K	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CATTTCAGTAGAGGGCTGCCT	0.527000													21	53					0	0	0.249174	0	0
COBL	23242	broad.mit.edu	37	7	51096582	51096582	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:51096582C>A	ENST00000395542.2	-	12	2641	c.2457G>T	c.(2455-2457)ggG>ggT	p.G819G	COBL_ENST00000265136.7_Silent_p.G737G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	737										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCACCAAGTTCCCCAGCTCGT	0.507000													20	41					0.00188189	0.00190001	0.234183	1	0
FAM120B	84498	broad.mit.edu	37	6	170626882	170626882	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:170626882C>G	ENST00000476287.1	+	2	512	c.404C>G	c.(403-405)tCa>tGa	p.S135*	FAM120B_ENST00000540480.1_Nonsense_Mutation_p.S147*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.S158*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	135					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTCATCCCCTCAGGGCTAGCT	0.458000													36	67					0	0	0.225048	0	0
EPHA6	285220	broad.mit.edu	37	3	97439174	97439174	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:97439174G>C	ENST00000389672.5	+	15	2892	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	857						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCAGCAAGCGATGCATGGAG	0.463000													38	53					0	0	0.246493	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149790	45149790	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:45149790G>C	ENST00000458659.2	-	1	911	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	TSC22D1_ENST00000501704.2_Missense_Mutation_p.L141V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	141					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GATTCATCCAGATCATCATAG	0.488000													26	21					0	0	0.309145	0	0
RORA	6095	broad.mit.edu	37	15	60795042	60795042	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:60795042C>T	ENST00000335670.6	-	8	1200	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K	RORA_ENST00000449337.2_Missense_Mutation_p.R312K|RORA_ENST00000309157.4_Missense_Mutation_p.R392K|RORA_ENST00000261523.5_Missense_Mutation_p.R400K|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	400	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGCACATTCTGATAAACAC	0.458000													104	172					0	0	0.323286	0	0
NRD1	4898	broad.mit.edu	37	1	52256649	52256649	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:52256649C>T	ENST00000354831.7	-	30	3367	c.3178G>A	c.(3178-3180)Gat>Aat	p.D1060N	NRD1_ENST00000539524.1_Missense_Mutation_p.D928N|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.D992N	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	991					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATCTTCTTATCAACAACTTCA	0.398000													18	23					0	0	0.175082	0	0
MACF1	23499	broad.mit.edu	37	1	39852945	39852945	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:39852945G>A	ENST00000564288.1	+	58	15208	c.14431G>A	c.(14431-14433)Gat>Aat	p.D4811N	MACF1_ENST00000317713.7_Missense_Mutation_p.D2749N|MACF1_ENST00000539005.1_Missense_Mutation_p.D2728N|MACF1_ENST00000289893.4_Missense_Mutation_p.D3251N|MACF1_ENST00000372915.3_Missense_Mutation_p.D4816N|MACF1_ENST00000545844.1_Missense_Mutation_p.D2749N|MACF1_ENST00000567887.1_Missense_Mutation_p.D4848N|MACF1_ENST00000361689.2_Missense_Mutation_p.D2749N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4816					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGTTGGATGATAAACAAAG	0.448000													106	161					0	0	0.323286	0	0
SEMA3B	7869	broad.mit.edu	37	3	50308001	50308001	+	RNA	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:50308001G>C	ENST00000418948.1	+	0	564							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGCTAAAACAGAGGCCTGCCT	0.652000													6	15					0	0	0.248553	0	0
TRPV4	59341	broad.mit.edu	37	12	110246198	110246198	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:110246198G>C	ENST00000418703.2	-	2	556	c.462C>G	c.(460-462)ctC>ctG	p.L154L	TRPV4_ENST00000541794.1_Silent_p.L154L|TRPV4_ENST00000537083.1_Silent_p.L154L|TRPV4_ENST00000536838.1_Silent_p.L120L|TRPV4_ENST00000392719.2_Silent_p.L154L|TRPV4_ENST00000261740.2_Silent_p.L154L|TRPV4_ENST00000346520.2_Silent_p.L154L|TRPV4_ENST00000544971.1_Silent_p.L154L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	154					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGATGTCAAAGAGGATAGGCC	0.607000													17	56					0	0	0.204396	0	0
TALDO1	6888	broad.mit.edu	37	11	747535	747535	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:747535C>G	ENST00000319006.3	+	1	207	c.54C>G	c.(52-54)ctC>ctG	p.L18L	TALDO1_ENST00000528097.1_Silent_p.L18L			P37837	TALDO_HUMAN	transaldolase 1	18					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TGGACCAGCTCAAGCAGTTCA	0.736000													5	9					0	0	0.248553	0	0
ZNF707	286075	broad.mit.edu	37	8	144776267	144776267	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:144776267G>A	ENST00000532205.1	+	8	1582	c.683G>A	c.(682-684)cGc>cAc	p.R228H	ZNF707_ENST00000358656.4_Missense_Mutation_p.R228H|ZNF707_ENST00000454097.1_Missense_Mutation_p.R228H|ZNF707_ENST00000532158.1_Missense_Mutation_p.R228H|ZNF707_ENST00000418203.2_Missense_Mutation_p.R228H			Q96C28	ZN707_HUMAN	zinc finger protein 707	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACCACACGCGCGAGAAGCCC	0.667000													11	14					0	0	0.069234	0	0
C11orf31	280636	broad.mit.edu	37	11	57509396	57509396	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:57509396G>C	ENST00000388857.4	+	2	262	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_Missense_Mutation_p.E80Q			Q8IZQ5	SELH_HUMAN	chromosome 11 open reading frame 31	80					cell redox homeostasis		selenium binding										GGGCAGCTTCGAGGTGACGCT	0.677000													5	6					0	0	0.217242	0	0
ANKRD26	22852	broad.mit.edu	37	10	27326148	27326148	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:27326148C>G	ENST00000376087.4	-	23	2829	c.2664G>C	c.(2662-2664)gaG>gaC	p.E888D	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E445D|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E904D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	887						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CCATTTCAATCTCCTTTTGTT	0.328000													34	84					0	0	0.173368	0	0
NDUFS2	4720	broad.mit.edu	37	1	161172237	161172237	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:161172237G>C	ENST00000392179.4	+	1	301	c.62G>C	c.(61-63)gGg>gCg	p.G21A	NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.G21A	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	21					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CTGCGGCCTGGGGCTGGAGTC	0.652000													3	31					0	0	0.150653	0	0
RNF111	54778	broad.mit.edu	37	15	59373350	59373350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:59373350C>T	ENST00000348370.4	+	8	2597	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q722*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q722*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q722*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q722*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	722	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q722*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCAATCCCTCAGCATCTTCC	0.502000													48	91					0	0	0.323286	0	0
DERL1	79139	broad.mit.edu	37	8	124042888	124042888	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:124042888G>C	ENST00000259512.4	-	2	522	c.222C>G	c.(220-222)gtC>gtG	p.V74V	DERL1_ENST00000419562.2_Intron|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Silent_p.V74V	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	74					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATATAAATTGACCAAATAAA	0.363000													32	71					0	0	0.173368	0	0
HIF3A	64344	broad.mit.edu	37	19	46800352	46800352	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:46800352C>G	ENST00000377670.4	+	1	50	c.19C>G	c.(19-21)Cgc>Ggc	p.R7G		NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGGGCTGCAGCGCGCAAGGTA	0.716000													17	29					0	0	0.324025	0	0
FAM207A	85395	broad.mit.edu	37	21	46387037	46387037	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:46387037C>A	ENST00000291634.6	+	4	489	c.441C>A	c.(439-441)ctC>ctA	p.L147L	FAM207A_ENST00000397826.3_Silent_p.L132L|FAM207A_ENST00000479127.1_3'UTR	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	147																	TGCACCCTCTCAGGGATGCCC	0.677000													10	29					0.00136819	0.00138359	0.093190	1	0
SSR2	6746	broad.mit.edu	37	1	155984754	155984754	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:155984754C>A	ENST00000295702.4	-	4	432	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	SSR2_ENST00000480567.1_Missense_Mutation_p.V121L|SSR2_ENST00000529008.1_Intron|SSR2_ENST00000496742.1_Intron	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	121					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAACTCACCACAACGGGCCCA	0.517000													8	39					1.06961e-07	1.10293e-07	0.278610	1	0
EFCAB14	9813	broad.mit.edu	37	1	47182007	47182007	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:47182007G>C	ENST00000371933.3	-	2	1270	c.294C>G	c.(292-294)ctC>ctG	p.L98L	EFCAB14_ENST00000544071.1_Silent_p.L98L	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		GATCCTCCTTGAGAGCAACCT	0.418000													13	31					0	0	0.160694	0	0
GPR112	139378	broad.mit.edu	37	X	135430993	135430993	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:135430993G>A	ENST00000394143.1	+	6	5419	c.5128G>A	c.(5128-5130)Gat>Aat	p.D1710N	GPR112_ENST00000412101.1_Missense_Mutation_p.D1505N|GPR112_ENST00000370652.1_Missense_Mutation_p.D1710N|GPR112_ENST00000287534.4_Missense_Mutation_p.D1647N|GPR112_ENST00000394141.1_Missense_Mutation_p.D1505N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1710					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACAAGCAGATGAGGCTAC	0.438000													83	25					0	0	0.323286	0	0
GTF3C6	112495	broad.mit.edu	37	6	111288781	111288781	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:111288781C>G	ENST00000329970.7	+	6	640	c.430C>G	c.(430-432)Cta>Gta	p.L144V	GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	144						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TTGTAACTTTCTACATGAAAA	0.393000													62	121					0	0	0.323286	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451107	48451107	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:48451107G>C	ENST00000358536.4	-	33	6080	c.5811C>G	c.(5809-5811)ttC>ttG	p.F1937L	PLXNB1_ENST00000448774.2_Missense_Mutation_p.F548L|PLXNB1_ENST00000358459.4_Missense_Mutation_p.F1754L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.F1937L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.F1754L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1937					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAATCACCTGGAACAGGTCAT	0.607000													20	48					0	0	0.234183	0	0
CDK18	5129	broad.mit.edu	37	1	205495256	205495256	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:205495256G>C	ENST00000360066.2	+	6	821	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	CDK18_ENST00000429964.2_Missense_Mutation_p.E174Q|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Missense_Mutation_p.E204Q	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	172	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GGCCCTGAAAGAGATCCGGCT	0.647000													10	28					0	0	0.105934	0	0
CES4A	283848	broad.mit.edu	37	16	67042973	67042973	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67042973C>G	ENST00000326686.5	+	14	1614	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	CES4A_ENST00000398354.1_Silent_p.L468L|CES4A_ENST00000397205.2_3'UTR|CES4A_ENST00000540947.2_3'UTR|CES4A_ENST00000541479.1_Silent_p.L491L|CES4A_ENST00000535696.1_3'UTR|CES4A_ENST00000338718.4_3'UTR|CES4A_ENST00000540579.1_Silent_p.L440L			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	538						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GCATGAAGCTCAAGGAGAAGA	0.493000													63	133					0	0	0.323286	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915437	39915437	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:39915437G>C	ENST00000425673.1	+	17	3902	c.3577G>C	c.(3577-3579)Gac>Cac	p.D1193H	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D1163H|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D1222H|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1222					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGCTCTCTAGACATTCAGGG	0.532000													83	163					0	0	0.323286	0	0
E2F7	144455	broad.mit.edu	37	12	77419538	77419538	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:77419538C>T	ENST00000322886.7	-	12	2600	c.2365G>A	c.(2365-2367)Gga>Aga	p.G789R	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	789					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GCTATTGATCCAAGGCCAGGC	0.537000													20	32					0	0	0.189662	0	0
LPHN3	23284	broad.mit.edu	37	4	62935975	62935975	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:62935975C>T	ENST00000514591.1	+	25	4088	c.3759C>T	c.(3757-3759)acC>acT	p.T1253T	LPHN3_ENST00000507625.1_Silent_p.T1312T|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000506720.1_Silent_p.T1364T|LPHN3_ENST00000514996.1_Silent_p.T1287T|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.T1253T|LPHN3_ENST00000508946.1_Silent_p.T1296T|LPHN3_ENST00000506746.1_Silent_p.T1355T|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1231					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACGAGACCGCCCTAGAGA	0.458000													5	5					0	0	0.184627	0	0
MARK1	4139	broad.mit.edu	37	1	220809219	220809219	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:220809219C>G	ENST00000402574.1	+	13	1918	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	MARK1_ENST00000366918.4_Missense_Mutation_p.Q419E|MARK1_ENST00000366917.4_Missense_Mutation_p.Q441E	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	441	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAAAAGACCTCAGGCTAACAG	0.408000													30	76					0	0	0.134883	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70839806	70839806	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:70839806C>T	ENST00000256366.4	-	4	421	c.340G>A	c.(340-342)Gac>Aac	p.D114N	SYNJ2BP_ENST00000554216.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CCACTTGGGTCCCCTTCACCT	0.463000													38	21					0	0	0.225048	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918980	17918980	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:17918980C>T	ENST00000318683.6	+	2	511	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	B3GNT3_ENST00000595387.1_Missense_Mutation_p.R122C	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	122					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAACTATGTGCGCCGCGAGCT	0.677000													3	24					0	0	0.115264	0	0
CDH26	60437	broad.mit.edu	37	20	58571732	58571732	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:58571732G>A	ENST00000348616.4	+	13	2235	c.1935G>A	c.(1933-1935)aaG>aaA	p.K645K	CDH26_ENST00000244047.5_Silent_p.K645K|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Intron|CDH26_ENST00000244049.3_Intron	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	645					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTGAACCTAAGAGGCATGGAT	0.453000													75	124					0	0	0.323286	0	0
PLS1	5357	broad.mit.edu	37	3	142394998	142394998	+	Splice_Site	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:142394998G>C	ENST00000337777.3	+	5	577		c.e5-1		PLS1_ENST00000457734.2_Splice_Site|PLS1_ENST00000497002.1_Splice_Site	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1							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						TCTCCTTTCAGAGGAAGAAAA	0.353000													20	50					0	0	0.204396	0	0
DPP7	29952	broad.mit.edu	37	9	140007428	140007428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:140007428G>A	ENST00000371579.2	-	7	851	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	283						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCAGGGAGGGGACCCAGGAAG	0.667000													30	12					0	0	0.153744	0	0
TIAM1	7074	broad.mit.edu	37	21	32492803	32492803	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32492803G>C	ENST00000286827.3	-	29	5130	c.4659C>G	c.(4657-4659)ctC>ctG	p.L1553L	TIAM1_ENST00000541036.1_Silent_p.L1493L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1553					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCTTCTTGAGCTGTGCCA	0.597000													33	36					0	0	0.203993	0	0
ARL1	400	broad.mit.edu	37	12	101794928	101794928	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:101794928G>C	ENST00000261636.8	-	4	422	c.248C>G	c.(247-249)tCa>tGa	p.S83*	ARL1_ENST00000536227.1_Nonsense_Mutation_p.S66*|ARL1_ENST00000539055.1_Nonsense_Mutation_p.S37*|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Nonsense_Mutation_p.S66*|ARL1_ENST00000551671.1_Nonsense_Mutation_p.S83*	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	83					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	p.S83*(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ATCTGTGTTTGAATAGTAACA	0.368000													28	77					0	0	0.353513	0	0
MPPED1	758	broad.mit.edu	37	22	43831044	43831044	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:43831044C>G	ENST00000417669.1	+	3	759	c.315C>G	c.(313-315)atC>atG	p.I105M	MPPED1_ENST00000538182.1_Missense_Mutation_p.I138M|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.I105M|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000443721.1_Missense_Mutation_p.I105M			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	105							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGGACCCCATCCAGATGCCGT	0.642000													49	36					0	0	0.323286	0	0
OR5D14	219436	broad.mit.edu	37	11	55563457	55563457	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:55563457C>T	ENST00000335605.1	+	1	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CACAGAGGCTCTGTGCCCTGC	0.517000													32	50					0	0	0.163468	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985730	67985730	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67985730G>C	ENST00000422611.2	-	7	1173	c.1134C>G	c.(1132-1134)ctC>ctG	p.L378L	SLC12A4_ENST00000316341.3_Silent_p.L376L|SLC12A4_ENST00000572037.1_Silent_p.L328L|SLC12A4_ENST00000541864.2_Silent_p.L345L|SLC12A4_ENST00000537830.2_Silent_p.L370L|SLC12A4_ENST00000576616.1_Silent_p.L376L|SLC12A4_ENST00000338335.3_Silent_p.L376L	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	376					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACCCACCCTGGAGCACACCAG	0.632000													8	14					0	0	0.278610	0	0
LHX4	89884	broad.mit.edu	37	1	180199673	180199673	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:180199673G>A	ENST00000263726.2	+	1	253	c.9G>A	c.(7-9)caG>caA	p.Q3Q		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	3						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						AGATGATGCAGAGTGCGACTG	0.522000													13	46					0	0	0.132662	0	0
PLCB2	5330	broad.mit.edu	37	15	40591134	40591134	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:40591134C>G	ENST00000260402.3	-	9	964	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	PLCB2_ENST00000456256.2_Missense_Mutation_p.E239Q|PLCB2_ENST00000557821.1_Missense_Mutation_p.E239Q	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	239					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GTCAGGTGCTCCTTCGTCATG	0.577000													26	69					0	0	0.338820	0	0
RPL3L	6123	broad.mit.edu	37	16	1996986	1996986	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:1996986G>A	ENST00000268661.7	-	6	896	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	268					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCCCGGCCCGAGCAATGGAG	0.672000													30	68					0	0	0.153744	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201501	140201501	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140201501C>T	ENST00000529859.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I	PCDHA5_ENST00000378126.3_Silent_p.I47I|PCDHA5_ENST00000529619.1_Silent_p.I47I|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCCGCATCGCGCAGGACC	0.647000													46	56					0	0	0.323286	0	0
ABCA3	21	broad.mit.edu	37	16	2334310	2334310	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2334310C>T	ENST00000301732.5	-	25	4532	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K	ABCA3_ENST00000382381.3_Missense_Mutation_p.E1220K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1278					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCGGCGACCTCGGAGGAGGTG	0.622000													22	34					0	0	0.249174	0	0
DUSP16	80824	broad.mit.edu	37	12	12630651	12630651	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:12630651C>G	ENST00000228862.2	-	7	1745	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	372					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGGCTGTCCTCTAACAGCGAC	0.622000													23	35					0	0	0.249174	0	0
DLGAP4	22839	broad.mit.edu	37	20	35155433	35155433	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:35155433G>C	ENST00000373913.3	+	13	3449	c.2969G>C	c.(2968-2970)tGa>tCa	p.*990S	RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000339266.5_Nonstop_Mutation_p.*993S|DLGAP4_ENST00000401952.2_Nonstop_Mutation_p.*990S|DLGAP4_ENST00000340491.4_Nonstop_Mutation_p.*454S|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000373907.2_Nonstop_Mutation_p.*993S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	0					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCAGGCTCTGAGACCATGCA	0.502000													20	25					0	0	0.219247	0	0
WSB2	55884	broad.mit.edu	37	12	118474261	118474261	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:118474261G>C	ENST00000315436.3	-	6	856	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	WSB2_ENST00000542304.1_Missense_Mutation_p.Q14E|WSB2_ENST00000535496.1_Missense_Mutation_p.Q241E|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.Q256E|WSB2_ENST00000544233.1_Missense_Mutation_p.Q29E	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	239					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACTGCTTTGATGGCCCTCT	0.507000													56	87					0	0	0.323286	0	0
FGD6	55785	broad.mit.edu	37	12	95603900	95603900	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:95603900T>A	ENST00000343958.4	-	2	1383	c.1160A>T	c.(1159-1161)aAt>aTt	p.N387I	FGD6_ENST00000546711.1_Missense_Mutation_p.N387I|FGD6_ENST00000549499.1_Missense_Mutation_p.N387I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	387					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGATTCCATATTCAATTCACT	0.333000													30	68					0	0	0.134883	0	0
LCE2C	353140	broad.mit.edu	37	1	152648745	152648745	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:152648745G>T	ENST00000368783.1	+	2	309	c.254G>T	c.(253-255)cGg>cTg	p.R85L	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	85	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCGGCGCCGGCACCAGAGC	0.677000													5	112					0.00116845	0.0011835	0.217242	1	0
SRSF6	6431	broad.mit.edu	37	20	42088733	42088733	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:42088733G>C	ENST00000244020.3	+	4	548	c.442G>C	c.(442-444)Gag>Cag	p.E148Q		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	148	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						ACGAACAAATGAGGGTGTAAT	0.418000													23	51					0	0	0.144211	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858839	149858839	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149858839G>T	ENST00000331380.2	+	1	315	c.315G>T	c.(313-315)caG>caT	p.Q105H		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	105					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q105H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCATCGCCCAGGGCGGCGTTT	0.522000													41	163					1.68508e-10	1.76359e-10	0.279185	1	0
EVPL	2125	broad.mit.edu	37	17	74006418	74006418	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:74006418C>T	ENST00000301607.3	-	22	3121	c.2868G>A	c.(2866-2868)gaG>gaA	p.E956E	EVPL_ENST00000586740.1_Silent_p.E978E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	956	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACTTCCTTCTCCTCCAGCC	0.682000													16	55					0	0	0.146539	0	0
ARR3	407	broad.mit.edu	37	X	69496305	69496305	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:69496305C>G	ENST00000374495.3	+	7	466	c.368C>G	c.(367-369)tCt>tGt	p.S123C	ARR3_ENST00000307959.8_Missense_Mutation_p.S123C			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	123					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CTGCCCTGTTCTGTGACACTG	0.478000													27	8					0	0	0.134883	0	0
LITAF	9516	broad.mit.edu	37	16	11643571	11643571	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:11643571G>C	ENST00000571688.1	-	4	638	c.408C>G	c.(406-408)ttC>ttG	p.F136L	LITAF_ENST00000571459.1_3'UTR|LITAF_ENST00000381810.3_Missense_Mutation_p.L137V|LITAF_ENST00000572255.1_Missense_Mutation_p.F43L|LITAF_ENST00000413364.2_3'UTR|LITAF_ENST00000339430.5_Missense_Mutation_p.F136L|LITAF_ENST00000570904.1_Missense_Mutation_p.F136L|LITAF_ENST00000574763.1_Missense_Mutation_p.F136L|LITAF_ENST00000576036.1_Missense_Mutation_p.F136L	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	136					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						CATCCACGCAGAAGGGGATGA	0.582000													11	13					0	0	0.093190	0	0
N4BP1	9683	broad.mit.edu	37	16	48595296	48595296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:48595296C>A	ENST00000262384.3	-	2	1494	c.1258G>T	c.(1258-1260)Gag>Tag	p.E420*	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	420					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTTGTAAGCTCATTTGTGCTG	0.363000													27	40					7.41945e-09	7.68836e-09	0.324025	1	0
SHPRH	257218	broad.mit.edu	37	6	146264599	146264599	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:146264599C>T	ENST00000367503.3	-	9	2316	c.1918G>A	c.(1918-1920)Gat>Aat	p.D640N	SHPRH_ENST00000275233.7_Missense_Mutation_p.D640N|SHPRH_ENST00000367505.2_Missense_Mutation_p.D640N|SHPRH_ENST00000438092.2_Missense_Mutation_p.D640N	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	640					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.D640N(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACATCACTATCAGCATGATTT	0.393000													42	90					0	0	0.301197	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44433831	44433831	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:44433831C>G	ENST00000372622.3	+	9	718	c.650C>G	c.(649-651)tCt>tGt	p.S217C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	217						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GTGTTGGGATCTCGAGCCAAC	0.463000													97	150					0	0	0.323286	0	0
INTS8	55656	broad.mit.edu	37	8	95869113	95869113	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:95869113C>T	ENST00000523731.1	+	15	1994	c.1861C>T	c.(1861-1863)Cat>Tat	p.H621Y	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.H621Y	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	621					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TTTGGATATTCATACACACGA	0.488000													51	77					0	0	0.323286	0	0
ADAM21	8747	broad.mit.edu	37	14	70925890	70925890	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:70925890C>G	ENST00000603540.1	+	2	1932	c.1674C>G	c.(1672-1674)gtC>gtG	p.V558V	ADAM21_ENST00000267499.3_Silent_p.V558V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	558	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTCTGATGTCTTTTGTGGGA	0.398000													34	20					0	0	0.323286	0	0
CACNB1	782	broad.mit.edu	37	17	37340341	37340341	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:37340341G>C	ENST00000394303.3	-	10	1048	c.841C>G	c.(841-843)Ctc>Gtc	p.L281V	CACNB1_ENST00000344140.5_Missense_Mutation_p.L326V|CACNB1_ENST00000394310.3_Missense_Mutation_p.L281V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	281					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGGTTGTTGAGAACTGAGCGC	0.582000													22	36					0	0	0.264190	0	0
TSEN2	80746	broad.mit.edu	37	3	12545233	12545233	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:12545233G>A	ENST00000444864.1	+	5	1168	c.781G>A	c.(781-783)Gag>Aag	p.E261K	TSEN2_ENST00000383797.5_Missense_Mutation_p.E261K|TSEN2_ENST00000454502.2_Missense_Mutation_p.E202K|TSEN2_ENST00000284995.6_Missense_Mutation_p.E261K|TSEN2_ENST00000402228.3_Missense_Mutation_p.E261K|TSEN2_ENST00000314571.7_Missense_Mutation_p.E261K|TSEN2_ENST00000415684.1_Missense_Mutation_p.E261K	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	261					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CGTGCTGGTCGAGGAAGCGGA	0.567000													14	28					0	0	0.160694	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982264	61982264	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:61982264A>C	ENST00000370263.4	-	5	720	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	167					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AAGGGGAAGAAGGTGACGTCG	0.607000													33	53					0	0	0.214465	0	0
UMODL1	89766	broad.mit.edu	37	21	43508453	43508453	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:43508453C>G	ENST00000400427.1	+	5	833	c.437C>G	c.(436-438)tCa>tGa	p.S146*	UMODL1_ENST00000408989.2_Nonsense_Mutation_p.S218*|UMODL1_ENST00000408910.2_Nonsense_Mutation_p.S218*|UMODL1_ENST00000400424.1_Nonsense_Mutation_p.S146*	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	218	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CACCTGCACTCAGCCCCTGGG	0.642000													21	7					0	0	0.249174	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201580	140201580	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140201580C>T	ENST00000529859.1	+	1	220	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	PCDHA5_ENST00000378126.3_Silent_p.L74L|PCDHA5_ENST00000529619.1_Silent_p.L74L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1												p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGACCTTCTGGAGGTAAA	0.647000													67	130					0	0	0.323286	0	0
MSRA	4482	broad.mit.edu	37	8	10102704	10102704	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:10102704C>T	ENST00000528246.1	+	4	727	c.104C>T	c.(103-105)tCa>tTa	p.S35L	MSRA_ENST00000521209.2_Missense_Mutation_p.S35L|MSRA_ENST00000317173.4_Missense_Mutation_p.S101L|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000382490.5_Missense_Mutation_p.S58L|MSRA_ENST00000518255.1_Missense_Mutation_p.S101L	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	101					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GGCTATACTTCAAATCCTACT	0.408000													34	60					0	0	0.173368	0	0
TAF1L	138474	broad.mit.edu	37	9	32630255	32630255	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:32630255C>A	ENST00000242310.4	-	1	5412	c.5323G>T	c.(5323-5325)Gat>Tat	p.D1775Y		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1775					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCCAGCATCTTCCTCATCA	0.453000													48	47					2.14674e-31	2.36066e-31	0.323286	1	0
PEX1	5189	broad.mit.edu	37	7	92131290	92131290	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:92131290C>G	ENST00000248633.4	-	14	2425	c.2330G>C	c.(2329-2331)gGc>gCc	p.G777A	PEX1_ENST00000428214.1_Missense_Mutation_p.G720A|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.G455A	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	777					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CACAAACCCGCCAGTTTCTTT	0.378000													121	191					0	0	0.323286	0	0
GEN1	348654	broad.mit.edu	37	2	17946179	17946179	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:17946179G>C	ENST00000381254.2	+	4	578	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E122Q	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	122	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCATATGCTCGAATGCTTAGG	0.428000								Homologous recombination					68	27					0	0	0.323286	0	0
PJA2	9867	broad.mit.edu	37	5	108691708	108691708	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:108691708C>T	ENST00000361189.2	-	7	1911	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	PJA2_ENST00000361557.3_Missense_Mutation_p.D558N	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	558	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CCTAGTCCATCTGCAAAGCCA	0.383000													40	77					0	0	0.225048	0	0
MTA2	9219	broad.mit.edu	37	11	62365820	62365820	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62365820C>G	ENST00000278823.2	-	5	740	c.351G>C	c.(349-351)ttG>ttC	p.L117F	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	117	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTACTGGCTCAAGATATCTG	0.517000													181	348					0	0	0.323286	0	0
LTBP1	4052	broad.mit.edu	37	2	33488459	33488459	+	Splice_Site	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:33488459G>T	ENST00000404816.2	+	15	2970	c.2617_splice	c.e15+1	p.E873_splice	LTBP1_ENST00000402934.1_Splice_Site_p.E494_splice|LTBP1_ENST00000404525.1_Splice_Site_p.E494_splice|LTBP1_ENST00000354476.3_Splice_Site_p.E874_splice|LTBP1_ENST00000390003.4_Splice_Site_p.E548_splice|LTBP1_ENST00000418533.2_Splice_Site_p.E547_splice|LTBP1_ENST00000407925.1_Splice_Site_p.E547_splice			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	873	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAAGTGACAGGTTGGTGCAG	0.428000													32	71					1.62565e-12	1.71278e-12	0.163468	1	0
SLC4A1	6521	broad.mit.edu	37	17	42338013	42338013	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:42338013G>C	ENST00000262418.6	-	5	494	c.339C>G	c.(337-339)gtC>gtG	p.V113V	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	113					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTGGTGAAGACTCTACGCA	0.642000													23	28					0	0	0.294199	0	0
SLC35F4	341880	broad.mit.edu	37	14	58048118	58048118	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:58048118C>A	ENST00000556826.1	-	4	857	c.621G>T	c.(619-621)ctG>ctT	p.L207L	SLC35F4_ENST00000339762.6_Silent_p.L243L|SLC35F4_ENST00000554729.1_Silent_p.L84L	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTTCAGCGTCAGACCATCTT	0.403000													3	9					0.004672	0.0047019	0.115264	1	0
SLC27A1	376497	broad.mit.edu	37	19	17608070	17608070	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:17608070C>G	ENST00000252595.7	+	7	1100	c.1003C>G	c.(1003-1005)Cag>Gag	p.Q335E	SLC27A1_ENST00000598424.1_Missense_Mutation_p.Q156E|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.Q335E	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	335	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCAGGTGGTTCAGTACATCGG	0.711000													10	19					0	0	0.105934	0	0
SNF8	11267	broad.mit.edu	37	17	47022055	47022055	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:47022055C>G	ENST00000502492.1	-	1	424	c.42G>C	c.(40-42)aaG>aaC	p.K14N	SNF8_ENST00000290330.3_Missense_Mutation_p.K14N			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	14					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						CTGCAAGTTTCTTCTTGGCGA	0.687000													86	128					0	0	0.323286	0	0
GLIPR2	152007	broad.mit.edu	37	9	36162499	36162499	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:36162499G>A	ENST00000377960.4	+	5	479	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.V123I	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	149				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CGAAGAAAACGTCCTGCCGCC	0.537000													29	22					0	0	0.144211	0	0
REXO1	57455	broad.mit.edu	37	19	1828053	1828053	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:1828053G>A	ENST00000170168.4	-	2	829	c.735C>T	c.(733-735)ctC>ctT	p.L245L	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	245						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TGGCCCTGCTGAGGTGCCGGG	0.677000													23	43					0	0	0.279207	0	0
BBS2	583	broad.mit.edu	37	16	56536599	56536599	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:56536599G>A	ENST00000245157.5	-	8	1346	c.926C>T	c.(925-927)tCa>tTa	p.S309L	BBS2_ENST00000568104.1_Missense_Mutation_p.S309L|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	309					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCCATCCACTGAGCAGCAGAT	0.408000									Bardet-Biedl syndrome				43	86					0	0	0.323286	0	0
MYRF	745	broad.mit.edu	37	11	61543821	61543821	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:61543821G>A	ENST00000278836.5	+	10	1512	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	MYRF_ENST00000265460.5_Silent_p.T463T|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Silent_p.T97T	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		AGCAGGTCACGAAGGTGACTG	0.657000											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					0	0	0.278610	0	0
COMMD5	28991	broad.mit.edu	37	8	146076069	146076069	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:146076069C>G	ENST00000450361.2	-	2	1076	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	COMMD5_ENST00000402718.3_Missense_Mutation_p.E219Q|COMMD5_ENST00000305103.3_Missense_Mutation_p.E219Q	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	219						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGTCTGCGCTCACACCTCTTC	0.582000													10	20					0	0	0.069234	0	0
METTL1	4234	broad.mit.edu	37	12	58163393	58163393	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:58163393G>C	ENST00000324871.7	-	4	1237	c.528C>G	c.(526-528)atC>atG	p.I176M	METTL1_ENST00000257848.7_Missense_Mutation_p.Q115E	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	176						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			GGGTGGGACTGATGATTCGCC	0.542000													45	95					0	0	0.323286	0	0
POLRMT	5442	broad.mit.edu	37	19	619625	619625	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:619625C>A	ENST00000588649.2	-	13	3111	c.3027G>T	c.(3025-3027)caG>caT	p.Q1009H		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1009	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCTTCTCAATCTGCAGGCGCC	0.612000													27	51					7.76418e-22	8.42012e-22	0.324025	1	0
PRRC2C	23215	broad.mit.edu	37	1	171560972	171560972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:171560972G>T	ENST00000367742.3	+	34	8688	c.8446G>T	c.(8446-8448)Gaa>Taa	p.E2816*	PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E2895*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E2749*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E2814*			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1089							protein C-terminus binding										CAAAACCGAAGAAACAAAATC	0.478000													38	155					6.5261e-18	7.00498e-18	0.268233	1	0
OR5B17	219965	broad.mit.edu	37	11	58126450	58126450	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:58126450G>A	ENST00000357377.3	-	1	92	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGGTAGATGAGGGTAAACA	0.443000													60	89					0	0	0.323286	0	0
COL6A6	131873	broad.mit.edu	37	3	130293197	130293197	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:130293197G>A	ENST00000358511.6	+	7	3406	c.3375G>A	c.(3373-3375)ctG>ctA	p.L1125L	COL6A6_ENST00000453409.2_Silent_p.L1125L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1125	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGAAGCCCTGAGACACAGAG	0.567000													27	52					0	0	0.353513	0	0
NAF1	92345	broad.mit.edu	37	4	164050069	164050069	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:164050069G>A	ENST00000274054.2	-	8	1658	c.1465C>T	c.(1465-1467)Cat>Tat	p.H489Y	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	489					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTCCAAAATGAGAATTACTA	0.433000													17	12					0	0	0.204396	0	0
PEX11B	8799	broad.mit.edu	37	1	145522727	145522727	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:145522727C>A	ENST00000369306.3	+	4	737	c.588C>A	c.(586-588)ctC>ctA	p.L196L	PEX11B_ENST00000537888.1_Silent_p.L182L	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	196					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGTCCTGCTCCTGGCTCGAG	0.577000													34	192					2.26627e-22	2.46198e-22	0.257332	1	0
KIAA1468	57614	broad.mit.edu	37	18	59895656	59895656	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:59895656G>A	ENST00000256858.6	+	8	1521	c.1273G>A	c.(1273-1275)Gta>Ata	p.V425I	KIAA1468_ENST00000398130.2_Missense_Mutation_p.V425I|KIAA1468_ENST00000592479.1_3'UTR			Q9P260	K1468_HUMAN	KIAA1468	425							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCATCCAGATGTAAATAGTTC	0.428000													26	50					0	0	0.294199	0	0
USP19	10869	broad.mit.edu	37	3	49152909	49152909	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49152909G>C	ENST00000453664.1	-	12	2138	c.1820C>G	c.(1819-1821)tCc>tGc	p.S607C	USP19_ENST00000398896.1_Missense_Mutation_p.S324C|USP19_ENST00000417901.1_Missense_Mutation_p.S619C|USP19_ENST00000398888.2_Missense_Mutation_p.S516C|USP19_ENST00000398898.2_Missense_Mutation_p.S556C|USP19_ENST00000434032.2_Missense_Mutation_p.S617C|USP19_ENST00000398892.3_Missense_Mutation_p.S556C	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	516					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGAGTGTTGGACAGAGACTG	0.547000													49	56					0	0	0.323286	0	0
ECI1	1632	broad.mit.edu	37	16	2296965	2296965	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2296965C>G	ENST00000301729.4	-	3	236	c.189G>C	c.(187-189)aaG>aaC	p.K63N	ECI1_ENST00000562238.1_Missense_Mutation_p.K63N|ECI1_ENST00000570258.1_Missense_Mutation_p.K4N	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	63					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						CTGGGGGGTTCTTGAATTTCA	0.517000													12	25					0	0	0.093190	0	0
ZNF217	7764	broad.mit.edu	37	20	52198855	52198855	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:52198855G>A	ENST00000371471.2	-	2	936	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	ZNF217_ENST00000302342.3_Missense_Mutation_p.L171F			O75362	ZN217_HUMAN	zinc finger protein 217	171					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGATTTTTAAGAAACCAAGGC	0.463000													64	125					0	0	0.323286	0	0
DCAF6	55827	broad.mit.edu	37	1	168014240	168014240	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:168014240C>T	ENST00000367840.3	+	16	2127	c.2033C>T	c.(2032-2034)tCa>tTa	p.S678L	DCAF6_ENST00000312263.6_Missense_Mutation_p.S601L|DCAF6_ENST00000367843.3_Missense_Mutation_p.S621L|DCAF6_ENST00000432587.2_Missense_Mutation_p.S647L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	603	IQ.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAATCTGCTTCATCTGAAAAA	0.433000													43	161					0	0	0.279185	0	0
DOPEY1	23033	broad.mit.edu	37	6	83830475	83830475	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:83830475G>A	ENST00000349129.2	+	10	1324	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R346H|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R346H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	355					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCCTTTTCGCATTTTAATC	0.368000													12	45					0	0	0.119110	0	0
MYH10	4628	broad.mit.edu	37	17	8379172	8379172	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:8379172C>G	ENST00000360416.3	-	43	6112	c.5974G>C	c.(5974-5976)Gaa>Caa	p.E1992Q	MYH10_ENST00000269243.4_Missense_Mutation_p.E1961Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1977Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1982Q|NDEL1_ENST00000299734.7_Intron	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1961					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|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						GTCTTACTTTCTGTGTCATCG	0.582000													88	61					0	0	0.323286	0	0
OR2W5	441932	broad.mit.edu	37	1	247655066	247655066	+	RNA	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:247655066C>T	ENST00000522351.1	+	0	697							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGCCGCTCTCCCTCATCCTCA	0.562000													9	150					0	0	0.335167	0	0
TULP2	7288	broad.mit.edu	37	19	49391429	49391429	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49391429C>A	ENST00000221399.3	-	8	870	c.726G>T	c.(724-726)ctG>ctT	p.L242L		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	242					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CCTCGCCTTTCAGGGCCTTGG	0.592000													35	39					7.53189e-24	8.21068e-24	0.257332	1	0
POLR3F	10621	broad.mit.edu	37	20	18448199	18448199	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:18448199G>A	ENST00000377603.4	+	1	429	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	17					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						GGATCCGGTCGAAATAGAAAA	0.622000													22	40					0	0	0.249174	0	0
CNGB1	1258	broad.mit.edu	37	16	57954370	57954370	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:57954370G>C	ENST00000564448.1	-	19	1764	c.1704C>G	c.(1702-1704)ctC>ctG	p.L568L	CNGB1_ENST00000251102.8_Silent_p.L574L			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	574					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCTCCTTGAAGAGCTTCACCA	0.592000													40	40					0	0	0.257332	0	0
MECP2	4204	broad.mit.edu	37	X	153296808	153296808	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:153296808G>A	ENST00000303391.6	-	4	720	c.471C>T	c.(469-471)ttC>ttT	p.F157F	MECP2_ENST00000407218.1_Intron|MECP2_ENST00000453960.2_Silent_p.F169F	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	157	MBD.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTACCGTGAAGTCAAAAT	0.562000													53	12					0	0	0.323286	0	0
ACTN1	87	broad.mit.edu	37	14	69352204	69352204	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:69352204C>G	ENST00000193403.6	-	12	1706	c.1323G>C	c.(1321-1323)gaG>gaC	p.E441D	ACTN1_ENST00000376839.3_Missense_Mutation_p.E376D|ACTN1_ENST00000438964.2_Missense_Mutation_p.E441D|ACTN1_ENST00000538545.2_Missense_Mutation_p.E441D|ACTN1_ENST00000394419.4_Missense_Mutation_p.E441D	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	441	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGGTCACTCTCGAAGGCCT	0.617000													16	11					0	0	0.146539	0	0
CHCHD6	84303	broad.mit.edu	37	3	126451938	126451938	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:126451938C>G	ENST00000508789.1	+	4	356	c.284C>G	c.(283-285)gCt>gGt	p.A95G	CHCHD6_ENST00000290913.3_Missense_Mutation_p.A95G			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	95			A -> S (in dbSNP:rs2272487).							endometrium(2)|large_intestine(3)|lung(3)	8						CAGGAGCATGCTGCTATCCAG	0.552000													8	57					0	0	0.335167	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419170	65419170	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:65419170C>G	ENST00000360768.3	+	3	519	c.414C>G	c.(412-414)ttC>ttG	p.F138L	VKORC1L1_ENST00000434382.2_Missense_Mutation_p.L102V	NM_173517.3	NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	138						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TGAAGGAGTTCTGCATCATCT	0.517000													35	39					0	0	0.183431	0	0
SCN8A	6334	broad.mit.edu	37	12	52156422	52156422	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:52156422G>C	ENST00000354534.5	+	15	2684	c.2506G>C	c.(2506-2508)Gac>Cac	p.D836H	SCN8A_ENST00000550891.1_Missense_Mutation_p.D836H|SCN8A_ENST00000545061.1_Missense_Mutation_p.D836H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	836					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GAGTCTAGCAGACGTGGAGGG	0.408000													47	86					0	0	0.312237	0	0
SPTLC2	9517	broad.mit.edu	37	14	77984395	77984395	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:77984395C>G	ENST00000216484.2	-	11	1748	c.1555G>C	c.(1555-1557)Gaa>Caa	p.E519Q		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	519						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCAAGTATTTCTTTGGTATGA	0.393000													48	15					0	0	0.323286	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61907878	61907878	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:61907878G>C	ENST00000370275.4	+	4	309	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E20Q|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E73Q|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E73Q|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000547204.1_5'UTR			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	73	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CATTGAGCTTGAGAAGATGAA	0.522000													22	31					0	0	0.279207	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18439791	18439791	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:18439791G>C	ENST00000433979.1	+	3	805	c.689G>C	c.(688-690)tGt>tCt	p.C230S	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.C230S|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.C230S|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.C230S|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	230					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCAATAGGTTGTTCCATTCAG	0.299000													3	8					0	0	0.115264	0	0
CRTC2	200186	broad.mit.edu	37	1	153925047	153925047	+	Splice_Site	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:153925047C>G	ENST00000368633.1	-	8	829	c.702_splice	c.e8+1	p.K234_splice	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	234					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			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)			CTCCTCCTACCTTCTTAGCAT	0.522000													9	521					0	0	0.080935	0	0
AFF4	27125	broad.mit.edu	37	5	132232368	132232368	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:132232368C>G	ENST00000265343.5	-	11	2333	c.1954G>C	c.(1954-1956)Gat>Cat	p.D652H	AFF4_ENST00000378595.3_Missense_Mutation_p.D652H	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	652					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCTGAATCTGAGGATGAG	0.438000													38	73					0	0	0.203993	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019074	14019074	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:14019074G>C	ENST00000279593.3	-	2	278	c.69C>G	c.(67-69)ggC>ggG	p.G23G		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	23					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAGCTCTGCTGCCTGACACGG	0.582000													23	34					0	0	0.264190	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599330	136599330	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:136599330G>A	ENST00000531224.1	-	4	941	c.689C>T	c.(688-690)tCa>tTa	p.S230L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.S228L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S228L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S230L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S228L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S230L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	230					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGCAATAGGTGAAGGACTATG	0.433000													41	125					0	0	0.268233	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41253202	41253202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:41253202C>A	ENST00000357137.4	+	1	101	c.17C>A	c.(16-18)tCa>tAa	p.S6*	XPNPEP3_ENST00000414396.1_Nonsense_Mutation_p.S6*|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000541156.1_Nonsense_Mutation_p.S6*	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	6					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGCTGCTCTCAGCCCCCAAG	0.632000													8	4					0.000442599	0.00045194	0.335167	1	0
TECR	9524	broad.mit.edu	37	19	14676041	14676041	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:14676041C>T	ENST00000600083.1	+	11	860	c.227C>T	c.(226-228)cCc>cTc	p.P76L	TECR_ENST00000436007.2_Missense_Mutation_p.P246L|TECR_ENST00000215567.5_Missense_Mutation_p.P231L|TECR_ENST00000596073.1_Missense_Mutation_p.P76L			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	231					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						ATCCCATACCCCACCAAGAAC	0.637000													39	60					0	0	0.246493	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954344	79954344	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:79954344G>C	ENST00000306729.7	+	7	652	c.555G>C	c.(553-555)ctG>ctC	p.L185L	ASPSCR1_ENST00000306739.4_Silent_p.L185L|ASPSCR1_ENST00000580534.1_Silent_p.L108L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	185							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGGAAGCCTGGGCTCGTCAG	0.672000			T	TFE3	alveolar soft part sarcoma								8	36					0	0	0.307466	0	0
C8orf4	56892	broad.mit.edu	37	8	40011187	40011187	+	Missense_Mutation	SNP	G	G	A	rs10353		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:40011187G>A	ENST00000315792.3	+	1	199	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	46					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CACAGACCAAGAATCACTAGA	0.488000													29	46					0	0	0.134883	0	0
LMAN2L	81562	broad.mit.edu	37	2	97400156	97400156	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:97400156C>G	ENST00000426463.2	-	3	437	c.62G>C	c.(61-63)gGa>gCa	p.G21A	LMAN2L_ENST00000377079.4_Silent_p.R138R|LMAN2L_ENST00000534882.1_Missense_Mutation_p.G21A|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000264963.4_Silent_p.R138R			Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	0					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTGGCTGCATCCGATCCTTTG	0.498000													53	49					0	0	0.323286	0	0
ASPM	259266	broad.mit.edu	37	1	197070880	197070880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:197070880G>A	ENST00000367409.4	-	18	7757	c.7501C>T	c.(7501-7503)Cag>Tag	p.Q2501*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2501					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCCAAGTCTGAAATGTAATA	0.348000													44	122					0	0	0.323286	0	0
EIF4E2	9470	broad.mit.edu	37	2	233421129	233421129	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:233421129G>C	ENST00000409514.1	+	2	66	c.24G>C	c.(22-24)ttG>ttC	p.L8F	EIF4E2_ENST00000479834.1_3'UTR|EIF4E2_ENST00000258416.3_Missense_Mutation_p.L8F|EIF4E2_ENST00000409495.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000409394.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000409322.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000409098.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000409167.3_Missense_Mutation_p.L8F			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	8				MNNKFDALKDDDSGDHDQNEENSTQKD -> MMTVGTMIRM KKTAHRKI (in Ref. 3; AAC39871).	regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CATTCAGTTTGAAAGATGATG	0.413000													14	11					0	0	0.105934	0	0
CEP350	9857	broad.mit.edu	37	1	179972362	179972362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:179972362G>C	ENST00000367607.3	+	7	1490	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	358						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGTGTGGCAGGAGGCTGAGTT	0.378000													14	45					0	0	0.119110	0	0
CNN2	1265	broad.mit.edu	37	19	1032417	1032417	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:1032417C>G	ENST00000263097.4	+	3	575	c.212C>G	c.(211-213)tCc>tGc	p.S71C	CNN2_ENST00000348419.3_Missense_Mutation_p.S71C|CNN2_ENST00000565096.2_Missense_Mutation_p.S71C|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.S71C	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	71	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCGGGCTCCGTCCCCAAG	0.622000													40	67					0	0	0.323286	0	0
ASXL3	80816	broad.mit.edu	37	18	31314318	31314318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:31314318G>T	ENST00000269197.5	+	10	1021	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.E48Q(1)|p.E341Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAGAAATTGAGAAGGAAAA	0.323000													8	21					9.70103e-10	1.01361e-09	0.069234	1	0
FCGR1A	2209	broad.mit.edu	37	1	149762936	149762936	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149762936G>C	ENST00000369168.4	+	6	1042	c.988G>C	c.(988-990)Gat>Cat	p.D330H	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	330	Interaction with EPB41L2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AATCTCTTTGGATTCTGGTCA	0.383000													28	142					0	0	0.153744	0	0
SBK2	646643	broad.mit.edu	37	19	56041144	56041144	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:56041144C>T	ENST00000413299.1	-	4	1040	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	SBK2_ENST00000344158.3_Missense_Mutation_p.E335K	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	335							ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCTCCGCCTCGCCCTCCCGC	0.731000													17	23					0	0	0.146539	0	0
RGL4	266747	broad.mit.edu	37	22	24034855	24034855	+	Splice_Site	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:24034855G>A	ENST00000290691.5	+	3	1543		c.e3-1		GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Splice_Site	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4						small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TCCTTTTCCAGATCCTGCTCC	0.547000													20	35					0	0	0.204396	0	0
DPY19L1	23333	broad.mit.edu	37	7	34997615	34997615	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:34997615G>A	ENST00000310974.4	-	11	1085	c.941C>T	c.(940-942)tCt>tTt	p.S314F	DPY19L1_ENST00000462134.2_Intron	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	314						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TACCAAAGAAGAAGCATAATA	0.289000													4	17					0	0	0.184627	0	0
ALPK3	57538	broad.mit.edu	37	15	85399943	85399943	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:85399943G>A	ENST00000258888.5	+	6	2747	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	860					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGTGCACAGAAGGGCATGA	0.542000													15	32					0	0	0.132662	0	0
UBE3B	89910	broad.mit.edu	37	12	109945505	109945505	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109945505G>A	ENST00000342494.3	+	15	2182	c.1587G>A	c.(1585-1587)ctG>ctA	p.L529L	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Silent_p.L529L|UBE3B_ENST00000434735.2_Silent_p.L529L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	529					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGGCCATGCTGATGCTGTTCT	0.498000													56	82					0	0	0.323286	0	0
ZNF3	7551	broad.mit.edu	37	7	99674971	99674971	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99674971G>C	ENST00000303915.6	-	2	977	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	ZNF3_ENST00000413658.2_Missense_Mutation_p.Q4E|ZNF3_ENST00000424697.1_Missense_Mutation_p.Q4E|ZNF3_ENST00000299667.4_Missense_Mutation_p.Q4E			P17036	ZNF3_HUMAN	zinc finger protein 3	4					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGATCAGCCTGAGTTTCCATG	0.488000													50	88					0	0	0.323286	0	0
LRAT	9227	broad.mit.edu	37	4	155665794	155665794	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:155665794G>T	ENST00000336356.3	+	2	569	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S	LRAT_ENST00000507827.1_Missense_Mutation_p.A106S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	106					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TGTCAAAGTGGCCAGCATCCG	0.572000													9	4					5.4927e-09	5.70117e-09	0.307466	1	0
HIPK3	10114	broad.mit.edu	37	11	33308711	33308711	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:33308711G>A	ENST00000303296.4	+	2	1056	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	HIPK3_ENST00000525975.1_Missense_Mutation_p.E251K|HIPK3_ENST00000379016.3_Missense_Mutation_p.E251K|HIPK3_ENST00000456517.1_Missense_Mutation_p.E251K	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	251	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GCTCAGTACTGAAAATGCTGA	0.363000													24	30					0	0	0.279207	0	0
BASP1	10409	broad.mit.edu	37	5	17275436	17275436	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:17275436G>A	ENST00000322611.3	+	2	371	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	37					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						AGGGGACCCCGAAGGAGAGTG	0.647000													11	12					0	0	0.093190	0	0
NOTCH3	4854	broad.mit.edu	37	19	15292503	15292503	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15292503C>G	ENST00000263388.2	-	17	2751	c.2676G>C	c.(2674-2676)ctG>ctC	p.L892L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	892	EGF-like 23; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGGGTTGCTCAGGCACTCAT	0.677000													3	1					0	0	0.115264	0	0
PRRC2C	23215	broad.mit.edu	37	1	171530231	171530231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:171530231C>G	ENST00000367742.3	+	20	6348	c.6106C>G	c.(6106-6108)Cct>Gct	p.P2036A	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2036A|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2034A|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P2034A			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2034							protein C-terminus binding										TGGATCAGCTCCTTCATCAGA	0.458000													95	269					0	0	0.323286	0	0
BCL6	604	broad.mit.edu	37	3	187447411	187447411	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:187447411G>C	ENST00000406870.2	-	5	1148	c.782C>G	c.(781-783)cCc>cGc	p.P261R	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.P261R|BCL6_ENST00000232014.4_Missense_Mutation_p.P261R|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	261					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTTTCCTTGGGTGAATAGAT	0.572000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								28	62					0	0	0.338820	0	0
VPS4B	9525	broad.mit.edu	37	18	61064456	61064456	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:61064456C>T	ENST00000238497.5	-	9	1106	c.903G>A	c.(901-903)ccG>ccA	p.P301P		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	301					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CATGGGGTTCCGGCAAGGGAA	0.393000													6	58					0	0	0.217242	0	0
NUTM1	256646	broad.mit.edu	37	15	34646777	34646777	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:34646777C>G	ENST00000537011.1	+	6	1588	c.1206C>G	c.(1204-1206)atC>atG	p.I402M	NUTM1_ENST00000333756.4_Missense_Mutation_p.I374M|NUTM1_ENST00000438749.3_Missense_Mutation_p.I392M					NUT midline carcinoma, family member 1																		ATGTTGACATCATGGAATGGC	0.587000													40	57					0	0	0.257332	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711728	140711728	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140711728G>A	ENST00000517417.1	+	1	1477	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E493K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTAATAGAGGACACTAT	0.537000													53	135					0	0	0.323286	0	0
SUPT5H	6829	broad.mit.edu	37	19	39962116	39962116	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:39962116C>T	ENST00000599117.1	+	20	2164	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	SUPT5H_ENST00000359191.6_Silent_p.I595I|SUPT5H_ENST00000432763.2_Silent_p.I599I|SUPT5H_ENST00000598725.1_Silent_p.I599I|SUPT5H_ENST00000402194.2_Silent_p.I595I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	599	KOW 4.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAAAGACATCGTTAAGGTCA	0.512000													29	51					0	0	0.163468	0	0
FAM111A	63901	broad.mit.edu	37	11	58920182	58920182	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:58920182G>T	ENST00000528737.1	+	5	3859	c.1041G>T	c.(1039-1041)gtG>gtT	p.V347V	FAM111A_ENST00000361723.3_Silent_p.V347V|FAM111A_ENST00000420244.1_Silent_p.V347V|FAM111A_ENST00000531147.1_Silent_p.V347V|FAM111A_ENST00000533703.1_Silent_p.V347V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	347					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTAAAGTAGTGAAACTTCTTG	0.348000													34	53					4.34311e-12	4.56825e-12	0.183431	1	0
DEFB126	81623	broad.mit.edu	37	20	126135	126135	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:126135G>C	ENST00000382398.3	+	2	398	c.138G>C	c.(136-138)aaG>aaC	p.K46N	DEFB126_ENST00000542572.1_Intron	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	46					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGCATGTAAAGAATGGTTGGG	0.403000													27	55					0	0	0.183431	0	0
RASAL2	9462	broad.mit.edu	37	1	178389654	178389654	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:178389654C>G	ENST00000448150.3	+	5	1337	c.519C>G	c.(517-519)ttC>ttG	p.F173L	RASAL2_ENST00000367649.3_Missense_Mutation_p.F191L|RASAL2_ENST00000462775.1_Missense_Mutation_p.F43L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	43	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGGGATTCTTCAGCAAGCGCC	0.468000													12	51					0	0	0.105934	0	0
C12orf54	121273	broad.mit.edu	37	12	48888677	48888677	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48888677G>A	ENST00000314014.2	+	8	470	c.339G>A	c.(337-339)ctG>ctA	p.L113L	C12orf54_ENST00000548364.1_Silent_p.L113L|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	113										endometrium(1)|large_intestine(4)	5						TCCACAACCTGAAGACACAGC	0.498000													45	84					0	0	0.323286	0	0
ABI1	10006	broad.mit.edu	37	10	27048155	27048155	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:27048155G>A	ENST00000355394.4	-	9	1140	c.917C>T	c.(916-918)tCa>tTa	p.S306L	ABI1_ENST00000359188.4_Missense_Mutation_p.S277L|ABI1_ENST00000376134.3_Missense_Mutation_p.S279L|ABI1_ENST00000376160.1_Missense_Mutation_p.S272L|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.S322L|ABI1_ENST00000376170.4_Missense_Mutation_p.S277L|ABI1_ENST00000376166.1_Missense_Mutation_p.S272L|ABI1_ENST00000376138.3_Missense_Mutation_p.S278L|ABI1_ENST00000376140.3_Missense_Mutation_p.S278L|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376142.2_Missense_Mutation_p.S305L|ABI1_ENST00000376139.2_Missense_Mutation_p.S273L|ABI1_ENST00000376137.4_Intron			Q8IZP0	ABI1_HUMAN	abl-interactor 1	305	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCAGGAGCTGAGCCCGGGGC	0.498000													28	56					0	0	0.134883	0	0
ZNF169	169841	broad.mit.edu	37	9	97062208	97062208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:97062208C>A	ENST00000395395.2	+	5	458	c.368C>A	c.(367-369)tCa>tAa	p.S123*	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TTCCCAAGCTCATCTGCAGGA	0.507000													27	22					1.12875e-08	1.16774e-08	0.338820	1	0
C7orf43	55262	broad.mit.edu	37	7	99754719	99754719	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99754719G>A	ENST00000316937.3	-	5	1028	c.843C>T	c.(841-843)gtC>gtT	p.V281V	C7orf43_ENST00000419841.1_Silent_p.V49V|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Silent_p.V12V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	281										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACCTCACCAGACATTGTCCA	0.572000													21	66					0	0	0.279207	0	0
SEC24C	9632	broad.mit.edu	37	10	75525644	75525644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75525644G>T	ENST00000339365.2	+	11	1615	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Nonsense_Mutation_p.E485*|SEC24C_ENST00000411652.2_Nonsense_Mutation_p.E366*	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	485					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGGCTCTTATGAATTCTTGGC	0.507000													73	128					3.54697e-40	3.91411e-40	0.323286	1	0
NFATC3	4775	broad.mit.edu	37	16	68217146	68217146	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:68217146C>G	ENST00000349223.5	+	8	2199	c.1975C>G	c.(1975-1977)Cac>Gac	p.H659D	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.H659D|NFATC3_ENST00000575270.1_Missense_Mutation_p.H659D|NFATC3_ENST00000346183.3_Missense_Mutation_p.H659D	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	659					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCCTTAGGCTCACATTGTCCT	0.418000													44	95					0	0	0.323286	0	0
PHLPP1	23239	broad.mit.edu	37	18	60642700	60642700	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:60642700G>C	ENST00000400316.4	+	16	4071	c.2290G>C	c.(2290-2292)Gat>Cat	p.D764H	PHLPP1_ENST00000262719.5_Missense_Mutation_p.D1276H	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1276					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TGACCCTGTGGATCCAGGAGG	0.522000													64	97					0	0	0.323286	0	0
ROBO1	6091	broad.mit.edu	37	3	78737857	78737857	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:78737857G>T	ENST00000436010.2	-	7	1991	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	ROBO1_ENST00000495273.1_Missense_Mutation_p.Q335K|ROBO1_ENST00000464233.1_Missense_Mutation_p.Q371K|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q335K			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	371	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCTTCACACTGAAAAGTTACA	0.413000													7	8					0.00198382	0.00199971	0.248553	1	0
DAAM2	23500	broad.mit.edu	37	6	39846340	39846340	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:39846340G>C	ENST00000538976.1	+	13	1703	c.1521G>C	c.(1519-1521)ctG>ctC	p.L507L	DAAM2_ENST00000398904.2_Silent_p.L507L|DAAM2_ENST00000274867.4_Silent_p.L507L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	507					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGCAGAGCTGGTAGCCCAGC	0.582000													3	1					0	0	0.115264	0	0
ITGB4	3691	broad.mit.edu	37	17	73736024	73736024	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73736024A>G	ENST00000200181.3	+	20	2505	c.2318A>G	c.(2317-2319)cAc>cGc	p.H773R	ITGB4_ENST00000450894.3_Missense_Mutation_p.H773R|ITGB4_ENST00000579662.1_Missense_Mutation_p.H773R|ITGB4_ENST00000449880.2_Missense_Mutation_p.H773R|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.H773R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	773					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTCTGACCACTTGGACACG	0.612000													13	57					0	0	0.105934	0	0
CTSB	1508	broad.mit.edu	37	8	11706668	11706668	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:11706668G>A	ENST00000353047.6	-	5	586	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CTSB_ENST00000415599.2_Intron|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000534510.1_Silent_p.F111F|CTSB_ENST00000533455.1_Silent_p.F111F|CTSB_ENST00000434271.1_Silent_p.F111F|CTSB_ENST00000453527.2_Silent_p.F111F|CTSB_ENST00000345125.3_Silent_p.F111F|CTSB_ENST00000530640.2_Silent_p.F111F|CTSB_ENST00000531089.1_Silent_p.F111F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	111					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCACAGCCCCGAAGGCCTGCA	0.657000													7	27					0	0	0.307466	0	0
ELFN2	114794	broad.mit.edu	37	22	37769912	37769912	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:37769912G>C	ENST00000402918.1	-	3	2448	c.1663C>G	c.(1663-1665)Ctc>Gtc	p.L555V	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.L555V	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	555						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCAGCTTGAGAGCATCGATG	0.627000													30	28					0	0	0.134883	0	0
KANSL1	284058	broad.mit.edu	37	17	44248690	44248690	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:44248690G>C	ENST00000262419.6	-	2	1290	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	KANSL1_ENST00000574590.1_Missense_Mutation_p.L274V|KANSL1_ENST00000432791.1_Missense_Mutation_p.L274V|KANSL1_ENST00000575318.1_Missense_Mutation_p.L274V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.L274V	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	274						MLL1 complex	protein binding	p.L274V(1)									GCACTGAAAAGAATGGAAGAC	0.483000													20	76					0	0	0.234183	0	0
SDK1	221935	broad.mit.edu	37	7	4247913	4247913	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:4247913G>A	ENST00000404826.2	+	37	5536	c.5397G>A	c.(5395-5397)caG>caA	p.Q1799Q	SDK1_ENST00000389531.3_Silent_p.Q1779Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1799					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCACCCACCAGGCCGGTAGGA	0.627000													8	26					0	0	0.119110	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812070	140812070	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140812070G>A	ENST00000252085.3	+	1	1886	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.A582T(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGCTCCGCAGAGCCCGG	0.682000													58	105					0	0	0.323286	0	0
NUDT6	11162	broad.mit.edu	37	4	123814217	123814217	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:123814217G>A	ENST00000304430.5	-	5	750	c.717C>T	c.(715-717)tgC>tgT	p.C239C	FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000339154.2_Silent_p.C70C|NUDT6_ENST00000502270.1_Silent_p.C70C	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	239	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						ATTCTTCCTGGCAAAAATTTA	0.443000													4	81					0	0	0.150653	0	0
ACAD11	84129	broad.mit.edu	37	3	132294631	132294631	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132294631C>G	ENST00000264990.6	-	17	2957	c.1986G>C	c.(1984-1986)aaG>aaC	p.K662N	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.K187N	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CATACAACTTCTTCTTGAAAG	0.438000													23	54					0	0	0.249174	0	0
GPR133	283383	broad.mit.edu	37	12	131569129	131569129	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:131569129G>C	ENST00000261654.5	+	15	2151	c.1592G>C	c.(1591-1593)aGa>aCa	p.R531T	GPR133_ENST00000535015.1_Missense_Mutation_p.R563T|GPR133_ENST00000376682.4_Missense_Mutation_p.R217T|GPR133_ENST00000543617.1_Missense_Mutation_p.R50T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	531	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCGCTCACGAGAGGAAACCTC	0.622000													20	32					0	0	0.234183	0	0
NUP205	23165	broad.mit.edu	37	7	135292103	135292103	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:135292103C>G	ENST00000285968.6	+	22	3205	c.3179C>G	c.(3178-3180)gCt>gGt	p.A1060G		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1060					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						CCTCAGCTGGCTGAGCTATGT	0.498000													24	19					0	0	0.294199	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149798	45149798	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:45149798T>C	ENST00000458659.2	-	1	903	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	TSC22D1_ENST00000501704.2_Missense_Mutation_p.Y138C	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	138					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAGATCATCATAGCTCTCAGT	0.473000													25	23					0	0	0.309145	0	0
MYOG	4656	broad.mit.edu	37	1	203054939	203054939	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203054939C>T	ENST00000241651.4	-	1	225	c.151G>A	c.(151-153)Gag>Aag	p.E51K		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	51					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCCTTGTCCTCAAGGGGCCCT	0.672000													40	77					0	0	0.257332	0	0
SGTA	6449	broad.mit.edu	37	19	2759262	2759262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:2759262G>A	ENST00000221566.2	-	9	891	c.730C>T	c.(730-732)Cag>Tag	p.Q244*		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	244					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		TACAGCTGCTGAATCTGGGGA	0.393000													62	145					0	0	0.323286	0	0
ZNF730	100129543	broad.mit.edu	37	19	23318824	23318824	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:23318824G>C	ENST00000597761.2	+	3	404	c.205G>C	c.(205-207)Gat>Cat	p.D69H	ZNF730_ENST00000593635.1_Missense_Mutation_p.D37H	NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GAAGACACATGATATGGTAGC	0.348000													41	59					0	0	0.323286	0	0
EPCAM	4072	broad.mit.edu	37	2	47596657	47596657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:47596657C>T	ENST00000263735.4	+	1	371	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	EPCAM_ENST00000405271.1_Intron	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	5					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GGCGCCCCCGCAGGTCCTCGC	0.741000													8	5					0	0	0.335167	0	0
C2orf62	375307	broad.mit.edu	37	2	219229377	219229377	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:219229377G>A	ENST00000289388.3	+	7	686	c.657G>A	c.(655-657)caG>caA	p.Q219Q	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	219										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCATCCAGGTAGACCATC	0.582000													24	11					0	0	0.279207	0	0
UBA5	79876	broad.mit.edu	37	3	132394720	132394720	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132394720C>G	ENST00000356232.4	+	11	2156	c.1084C>G	c.(1084-1086)Cca>Gca	p.P362A	UBA5_ENST00000473651.1_Intron|UBA5_ENST00000493720.2_Missense_Mutation_p.362_362insA|UBA5_ENST00000494238.2_Missense_Mutation_p.P306A|UBA5_ENST00000264991.4_Missense_Mutation_p.P306A	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	362					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGTCCAGTTCCAGACTTACC	0.308000													24	33					0	0	0.353513	0	0
TXNDC11	51061	broad.mit.edu	37	16	11773491	11773491	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:11773491C>T	ENST00000356957.3	-	13	2625	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.E813K			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	840					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGCTTATTTCTGCTCTCAGT	0.597000													20	39					0	0	0.189662	0	0
SPAG9	9043	broad.mit.edu	37	17	49054546	49054546	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:49054546G>C	ENST00000262013.7	-	27	3654	c.3446C>G	c.(3445-3447)aCa>aGa	p.T1149R	SPAG9_ENST00000505279.1_Missense_Mutation_p.T1139R|SPAG9_ENST00000510283.1_Missense_Mutation_p.T992R|SPAG9_ENST00000357122.4_Missense_Mutation_p.T1135R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1149					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CATAAGAGCTGTAATTCTCAC	0.388000													55	82					0	0	0.323286	0	0
RNASEL	6041	broad.mit.edu	37	1	182555377	182555377	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:182555377C>G	ENST00000367559.3	-	2	818	c.565G>C	c.(565-567)Gat>Cat	p.D189H	RNASEL_ENST00000539397.1_Missense_Mutation_p.D189H|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189H	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	189					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCATCTCATCAAGGAGAATC	0.502000													32	93					0	0	0.173368	0	0
SDK2	54549	broad.mit.edu	37	17	71364591	71364591	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71364591C>T	ENST00000392650.3	-	37	5122	c.5122G>A	c.(5122-5124)Gat>Aat	p.D1708N	SDK2_ENST00000388726.3_Missense_Mutation_p.D1689N|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1708	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGAGGCCCATCCCCAGCGGCG	0.647000													3	21					0	0	0.115264	0	0
ITSN2	50618	broad.mit.edu	37	2	24522843	24522843	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:24522843C>G	ENST00000355123.4	-	12	1722	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	ITSN2_ENST00000406921.3_Missense_Mutation_p.E427Q|ITSN2_ENST00000361999.3_Missense_Mutation_p.E427Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	427					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTGCTTCTCTAAGCGTTTT	0.358000													70	25					0	0	0.323286	0	0
ZNF700	90592	broad.mit.edu	37	19	12060754	12060754	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:12060754G>A	ENST00000482090.1	+	3	2279	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.E639K			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAGATGCATGAAAGGACTCA	0.423000													32	62					0	0	0.134883	0	0
NEK1	4750	broad.mit.edu	37	4	170428916	170428916	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:170428916C>G	ENST00000439128.2	-	20	2417	c.1777G>C	c.(1777-1779)Gaa>Caa	p.E593Q	NEK1_ENST00000511633.1_Missense_Mutation_p.E577Q|NEK1_ENST00000510533.1_Missense_Mutation_p.E549Q|NEK1_ENST00000512193.1_Missense_Mutation_p.E524Q|NEK1_ENST00000507142.1_Missense_Mutation_p.E621Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	593					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCACTTCCTTCTTGTCCTTCA	0.358000													30	22					0	0	0.173368	0	0
MACF1	23499	broad.mit.edu	37	1	39907972	39907972	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:39907972G>A	ENST00000564288.1	+	76	19705	c.18928G>A	c.(18928-18930)Gag>Aag	p.E6310K	MACF1_ENST00000317713.7_Missense_Mutation_p.E4251K|MACF1_ENST00000539005.1_Missense_Mutation_p.E4121K|MACF1_ENST00000289893.4_Missense_Mutation_p.E4753K|MACF1_ENST00000372915.3_Missense_Mutation_p.E6209K|MACF1_ENST00000545844.1_Missense_Mutation_p.E4251K|MACF1_ENST00000567887.1_Missense_Mutation_p.E6347K|MACF1_ENST00000361689.2_Missense_Mutation_p.E4251K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6318					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACCTGGGTGAGAAAATTGC	0.448000													17	36					0	0	0.160694	0	0
CCDC18	343099	broad.mit.edu	37	1	93649049	93649049	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:93649049C>G	ENST00000343253.7	+	2	633	c.131C>G	c.(130-132)tCc>tGc	p.S44C	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.S162C|CCDC18_ENST00000401026.3_Missense_Mutation_p.S44C|CCDC18_ENST00000338949.4_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	44										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAAGAGTTATCCAGGTAAGTA	0.343000													23	28					0	0	0.279207	0	0
TMEM145	284339	broad.mit.edu	37	19	42827884	42827884	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42827884C>T	ENST00000301204.3	+	14	1385	c.1344C>T	c.(1342-1344)atC>atT	p.I448I		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	448						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TGACGTTTATCAGCGACTCGG	0.682000													26	47					0	0	0.353513	0	0
PFKFB3	5209	broad.mit.edu	37	10	6263358	6263358	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:6263358G>C	ENST00000379775.4	+	9	1176	c.846G>C	c.(844-846)ctG>ctC	p.L282L	PFKFB3_ENST00000360521.2_Silent_p.L282L|PFKFB3_ENST00000379789.4_Silent_p.L262L|PFKFB3_ENST00000379785.1_Silent_p.L282L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379782.3_Silent_p.L282L|PFKFB3_ENST00000317350.4_Silent_p.L282L|PFKFB3_ENST00000540253.1_Silent_p.L296L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	282	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCAGTGCTCTGAGCAAGTTCG	0.647000													14	14					0	0	0.146539	0	0
LAMC2	3918	broad.mit.edu	37	1	183196670	183196670	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:183196670G>A	ENST00000264144.4	+	10	1371	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	LAMC2_ENST00000493293.1_Missense_Mutation_p.E436K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	436	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTCAGGGGATGAGAATCCTGA	0.522000													55	262					0	0	0.323286	0	0
CMTM2	146225	broad.mit.edu	37	16	66620961	66620961	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:66620961G>C	ENST00000268595.2	+	3	657	c.506G>C	c.(505-507)aGa>aCa	p.R169T	CMTM2_ENST00000379486.2_Missense_Mutation_p.R116T	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	169	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TTTGCTGTGAGAAGTCGGCGA	0.517000													37	85					0	0	0.268233	0	0
PDIA2	64714	broad.mit.edu	37	16	336596	336596	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:336596G>C	ENST00000219406.6	+	9	1301	c.1283G>C	c.(1282-1284)tGg>tCg	p.W428S	PDIA2_ENST00000404312.1_Missense_Mutation_p.W425S	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	428	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCCCTGCCTGGGAGGCATTG	0.627000													17	36					0	0	0.160694	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540507	169540507	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:169540507G>C	ENST00000340806.6	+	1	798	c.798G>C	c.(796-798)ggG>ggC	p.G266G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	266										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGCTGAGCGGGAACCGCCTGG	0.612000													26	19					0	0	0.324025	0	0
HOXC13	3229	broad.mit.edu	37	12	54338956	54338956	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:54338956G>C	ENST00000243056.3	+	2	1065	c.909G>C	c.(907-909)caG>caC	p.Q303H		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	303						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						CTGAGCGCCAGGTAACCATCT	0.577000			T	NUP98	AML								26	39					0	0	0.324025	0	0
RRP12	23223	broad.mit.edu	37	10	99120333	99120333	+	Missense_Mutation	SNP	C	C	T	rs116818150	by1000genomes	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:99120333C>T	ENST00000370992.4	-	31	3721	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	RRP12_ENST00000414986.1_Missense_Mutation_p.E1143K|RRP12_ENST00000536831.1_Missense_Mutation_p.E922K|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.E1104K	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1204						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCAGCTCCTCCTCCTCAGCC	0.557000													35	55					0	0	0.235728	0	0
C5	727	broad.mit.edu	37	9	123808549	123808549	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:123808549G>C	ENST00000223642.1	-	2	207	c.178C>G	c.(178-180)Cct>Gct	p.P60A		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	60					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTTATCAGGATAACTTTTA	0.313000													30	21					0	0	0.163468	0	0
TRDN	10345	broad.mit.edu	37	6	123869710	123869710	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:123869710C>T	ENST00000334268.4	-	3	597	c.280G>A	c.(280-282)Gat>Aat	p.D94N	TRDN_ENST00000542443.1_Missense_Mutation_p.D94N|TRDN_ENST00000546248.1_Missense_Mutation_p.D94N|TRDN_ENST00000398178.3_Missense_Mutation_p.D94N			Q13061	TRDN_HUMAN	triadin	94					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCCATAGCATCACGTACCAGT	0.353000													4	4					0	0	0.184627	0	0
ACACB	32	broad.mit.edu	37	12	109675123	109675123	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109675123G>C	ENST00000338432.7	+	34	4719	c.4600G>C	c.(4600-4602)Gaa>Caa	p.E1534Q	ACACB_ENST00000543201.1_Missense_Mutation_p.E200Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1464Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1534Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1534					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAAGGTGTGGAAGTGACGGA	0.532000													27	42					0	0	0.309145	0	0
FAM134C	162427	broad.mit.edu	37	17	40734073	40734073	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:40734073G>A	ENST00000309428.5	-	9	1218	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	FAM134C_ENST00000585894.1_Missense_Mutation_p.L290F|FAM134C_ENST00000543197.1_Missense_Mutation_p.L192F	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	387						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CCTACAGGAAGAGCACCAAGC	0.657000													35	55					0	0	0.193644	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42322147	42322147	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:42322147G>T	ENST00000291232.3	-	2	369	c.325C>A	c.(325-327)Cgc>Agc	p.R109S		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	109						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						GACGCGCCGCGAAGCCGCCGC	0.731000													10	12					6.40141e-05	6.5578e-05	0.080935	1	0
AAK1	22848	broad.mit.edu	37	2	69732794	69732794	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:69732794C>T	ENST00000409085.4	-	16	2552	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Missense_Mutation_p.E726K	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	726						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.E726K(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCAAGCTTCTCGGGATGTTTG	0.488000													13	5					0	0	0.132662	0	0
GBP2	2634	broad.mit.edu	37	1	89579735	89579735	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:89579735G>C	ENST00000370466.3	-	7	1381	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	371					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACATCCTTGAAAGAGTTCT	0.488000													54	79					0	0	0.323286	0	0
RECQL	5965	broad.mit.edu	37	12	21629873	21629873	+	Silent	SNP	G	G	C	rs138413466		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:21629873G>C	ENST00000444129.2	-	8	1389	c.921C>G	c.(919-921)ctC>ctG	p.L307L	RECQL_ENST00000421138.2_Silent_p.L307L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	307	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCCATTAATGAGCTTTACAA	0.318000								Other identified genes with known or suspected DNA repair function					3	23					0	0	0.115264	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24950913	24950913	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:24950913C>G	ENST00000289968.6	-	17	1565	c.1496G>C	c.(1495-1497)gGt>gCt	p.G499A	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	499					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGCTTCACACCAAAGCTACA	0.537000													15	9					0	0	0.132662	0	0
MRPS35	60488	broad.mit.edu	37	12	27869326	27869326	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:27869326C>G	ENST00000081029.3	+	3	327	c.256C>G	c.(256-258)Cga>Gga	p.R86G	MRPS35_ENST00000538315.1_Missense_Mutation_p.R86G	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	86					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TCTTCCTGTTCGAATGGGTTA	0.453000													25	27					0	0	0.324025	0	0
STAU1	6780	broad.mit.edu	37	20	47733708	47733708	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:47733708C>G	ENST00000371828.3	-	12	1849	c.1362G>C	c.(1360-1362)ctG>ctC	p.L454L	STAU1_ENST00000360426.4_Silent_p.L448L|STAU1_ENST00000371792.1_Silent_p.L446L|STAU1_ENST00000371802.1_Silent_p.L454L|STAU1_ENST00000347458.5_Silent_p.L448L|STAU1_ENST00000340954.7_Silent_p.L448L|STAU1_ENST00000371856.2_Silent_p.L529L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	529						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CATGGCTGATCAGAGGTGGCT	0.478000													28	32					0	0	0.324025	0	0
PKD1	5310	broad.mit.edu	37	16	2153846	2153846	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2153846C>G	ENST00000262304.4	-	23	8420	c.8212G>C	c.(8212-8214)Gag>Cag	p.E2738Q	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.E2738Q	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2738	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTCCCAGCTCTGAGGGCTGT	0.642000													4	10					0	0	0.150653	0	0
FLOT2	2319	broad.mit.edu	37	17	27208935	27208935	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:27208935C>G	ENST00000394906.2	-	10	1053	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	FLOT2_ENST00000585169.1_Missense_Mutation_p.E271Q|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.E271Q			Q14254	FLOT2_HUMAN	flotillin 2	271					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCCTGTGCCTCCACGGCAATC	0.612000													21	43					0	0	0.294199	0	0
FADD	8772	broad.mit.edu	37	11	70049837	70049837	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:70049837C>T	ENST00000301838.4	+	1	569	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	91					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			gccggggccgcgcctggggaa	0.791000													3	12					0	0	0.150653	0	0
PPP1R21	129285	broad.mit.edu	37	2	48707126	48707126	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:48707126C>T	ENST00000294952.8	+	13	1446	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	PPP1R21_ENST00000449090.2_Missense_Mutation_p.A430V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.A430V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	430										endometrium(2)|kidney(4)|lung(9)	15						GTTGGTGCTGCTCTGCATGGA	0.403000													59	28					0	0	0.323286	0	0
CREBBP	1387	broad.mit.edu	37	16	3779048	3779048	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:3779048C>T	ENST00000262367.5	-	31	6809	c.6000G>A	c.(5998-6000)ctG>ctA	p.L2000L	CREBBP_ENST00000382070.3_Silent_p.L1962L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2000					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGGCACATTCAGGCTCACGG	0.692000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	4					0	0	0.278610	0	0
MYT1	4661	broad.mit.edu	37	20	62837064	62837064	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:62837064C>G	ENST00000536311.1	+	6	672	c.308C>G	c.(307-309)tCt>tGt	p.S103C	MYT1_ENST00000328439.1_Missense_Mutation_p.S103C|MYT1_ENST00000360149.4_Missense_Mutation_p.S103C			Q01538	MYT1_HUMAN	myelin transcription factor 1	103					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGGACGCCTCTGTTTCGGAT	0.597000													6	13					0	0	0.248553	0	0
STYXL1	51657	broad.mit.edu	37	7	75630281	75630281	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:75630281G>T	ENST00000451157.1	-	8	906	c.737C>A	c.(736-738)tCc>tAc	p.S246Y	STYXL1_ENST00000359697.3_Missense_Mutation_p.S246Y|STYXL1_ENST00000340062.5_Missense_Mutation_p.S150Y|STYXL1_ENST00000248600.1_Missense_Mutation_p.S246Y|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.S246Y			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	246	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ACCTTGGGTGGAAAAGATCAG	0.567000													33	103					1.30998e-17	1.40133e-17	0.225048	1	0
EIF3D	8664	broad.mit.edu	37	22	36912642	36912642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:36912642C>T	ENST00000216190.8	-	12	1459	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	EIF3D_ENST00000541106.1_Nonsense_Mutation_p.W314*|EIF3D_ENST00000405442.1_Nonsense_Mutation_p.W363*	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	363						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CTCCAAGCTTCCACCTGCGGT	0.512000													95	172					0	0	0.323286	0	0
AP3M1	26985	broad.mit.edu	37	10	75897965	75897965	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75897965C>T	ENST00000355264.4	-	2	484	c.173G>A	c.(172-174)aGt>aAt	p.S58N	AP3M1_ENST00000372745.1_Missense_Mutation_p.S58N	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	58					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CCGGTAGATACTGATGAGGTA	0.428000													30	48					0	0	0.134883	0	0
POLR1A	25885	broad.mit.edu	37	2	86276328	86276328	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:86276328G>C	ENST00000263857.6	-	17	2808	c.2430C>G	c.(2428-2430)gtC>gtG	p.V810V	POLR1A_ENST00000409681.1_Silent_p.V810V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	810					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTTGCCTCTTGACATCTGCCT	0.542000													46	30					0	0	0.323286	0	0
EPHA5	2044	broad.mit.edu	37	4	66467879	66467879	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:66467879G>C	ENST00000273854.3	-	3	990	c.390C>G	c.(388-390)ctC>ctG	p.L130L	EPHA5_ENST00000354839.4_Silent_p.L130L|EPHA5_ENST00000432638.2_Silent_p.L130L|EPHA5_ENST00000511294.1_Silent_p.L130L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	130					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGGTAAATTTGAGTTCTATGA	0.428000										TSP Lung(17;0.13)			52	29					0	0	0.323286	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186271	5186271	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:5186271G>C	ENST00000274181.7	+	5	1008	c.870G>C	c.(868-870)ctG>ctC	p.L290L	ADAMTS16_ENST00000511368.1_Silent_p.L290L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	290	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATGAAGAACTGAACGTGGAGA	0.473000													38	51					0	0	0.203993	0	0
FGD6	55785	broad.mit.edu	37	12	95603902	95603902	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:95603902C>T	ENST00000343958.4	-	2	1381	c.1158G>A	c.(1156-1158)ttG>ttA	p.L386L	FGD6_ENST00000546711.1_Silent_p.L386L|FGD6_ENST00000549499.1_Silent_p.L386L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	386					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATTCCATATTCAATTCACTTT	0.333000													29	68					0	0	0.353513	0	0
SPG11	80208	broad.mit.edu	37	15	44955770	44955770	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:44955770G>C	ENST00000261866.7	-	1	92	c.76C>G	c.(76-78)Cta>Gta	p.L26V	SPG11_ENST00000427534.2_Missense_Mutation_p.L26V|SPG11_ENST00000535302.2_Missense_Mutation_p.L26V|SPG11_ENST00000559193.1_Missense_Mutation_p.L26V|SPG11_ENST00000558319.1_Missense_Mutation_p.L26V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	26					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCATCGGTAGAACCCGCCCC	0.721000													5	3					0	0	0.184627	0	0
OR2G2	81470	broad.mit.edu	37	1	247751981	247751981	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:247751981C>T	ENST00000320065.1	+	1	320	c.320C>T	c.(319-321)tCc>tTc	p.S107F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTTACAACTCCCATGCCCTG	0.537000													58	161					0	0	0.323286	0	0
ZBP1	81030	broad.mit.edu	37	20	56188387	56188387	+	Splice_Site	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:56188387C>G	ENST00000340462.4	-	4	714		c.e4-1		ZBP1_ENST00000541799.1_Splice_Site|ZBP1_ENST00000395822.3_Splice_Site|ZBP1_ENST00000371173.3_Splice_Site|ZBP1_ENST00000343535.4_Splice_Site			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1							cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA 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)			CCAGAATCTTCTGCAAAATAA	0.448000													51	74					0	0	0.323286	0	0
HRC	3270	broad.mit.edu	37	19	49657828	49657828	+	Missense_Mutation	SNP	C	C	G	rs139799783		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49657828C>G	ENST00000252825.4	-	1	853	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	HRC_ENST00000595625.1_Missense_Mutation_p.E223Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	223	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCATCCTCTTCACTCCCA	0.547000													14	36					0	0	0.119110	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103474	55103474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:55103474C>T	ENST00000491143.2	+	1	558	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	176	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		gcaccaccatccgcaccacca	0.662000													6	5					0	0	0.217242	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179681	90179681	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:90179681G>C	ENST00000370454.4	+	3	1807	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	518						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAATCTGGAAGAGCTGTACCT	0.468000													22	37					0	0	0.219247	0	0
OR11A1	26531	broad.mit.edu	37	6	29394966	29394966	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:29394966G>C	ENST00000377149.1	-	5	925	c.453C>G	c.(451-453)ctC>ctG	p.L151L	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.L151L|OR11A1_ENST00000377148.1_Silent_p.L151L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAAATCCAGAGAGCCAGGTTG	0.547000													17	19					0	0	0.189662	0	0
BCHE	590	broad.mit.edu	37	3	165548094	165548094	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:165548094G>A	ENST00000264381.3	-	2	894	c.728C>T	c.(727-729)tCa>tTa	p.S243L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	243					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GGTGAACAATGAATGGCTTCC	0.438000													35	132					0	0	0.225048	0	0
TTN	7273	broad.mit.edu	37	2	179416824	179416824	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:179416824G>A	ENST00000589042.1	-	335	91027	c.90803C>T	c.(90802-90804)tCa>tTa	p.S30268L	TTN_ENST00000359218.5_Missense_Mutation_p.S21328L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27700L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21395L|TTN_ENST00000460472.2_Missense_Mutation_p.S21203L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28627L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28627							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)			GTTAGTTTGTGAAGTTTCCCG	0.423000													67	40					0	0	0.323286	0	0
CPT1A	1374	broad.mit.edu	37	11	68542817	68542817	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:68542817G>A	ENST00000265641.5	-	13	1696	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y	CPT1A_ENST00000540367.1_Silent_p.Y514Y|CPT1A_ENST00000539743.1_Silent_p.Y514Y|CPT1A_ENST00000376618.2_Silent_p.Y514Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	514					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCCTGGTGGGGTACGGAATGT	0.502000													44	75					0	0	0.323286	0	0
CYTH1	9267	broad.mit.edu	37	17	76694965	76694965	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:76694965C>G	ENST00000589297.1	-	8	1151	c.459G>C	c.(457-459)gaG>gaC	p.E153D	CYTH1_ENST00000361101.4_Missense_Mutation_p.E212D|CYTH1_ENST00000585509.1_Missense_Mutation_p.E153D|CYTH1_ENST00000591455.1_Missense_Mutation_p.E212D|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Missense_Mutation_p.E212D			Q15438	CYH1_HUMAN	cytohesin 1	212	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CAATGAACCTCTCCACAGTGG	0.483000													122	344					0	0	0.323286	0	0
LAMB4	22798	broad.mit.edu	37	7	107678026	107678026	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:107678026G>C	ENST00000388781.3	-	30	4569	c.4486C>G	c.(4486-4488)Cca>Gca	p.P1496A	LAMB4_ENST00000205386.4_Missense_Mutation_p.P1496A|LAMB4_ENST00000388780.3_Missense_Mutation_p.P1496A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1496	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGTCTTCTGGAGGCACGTTT	0.388000													31	71					0	0	0.183431	0	0
DDX20	11218	broad.mit.edu	37	1	112309284	112309284	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:112309284G>A	ENST00000475700.1	+	3	3420	c.1062G>A	c.(1060-1062)ttG>ttA	p.L354L	DDX20_ENST00000369702.4_Silent_p.L746L			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	746	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTCAGATTGCAGACTGAAG	0.473000													21	46					0	0	0.249174	0	0
LEPR	3953	broad.mit.edu	37	1	66058502	66058502	+	Silent	SNP	A	A	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:66058502A>C	ENST00000349533.6	+	6	842	c.657A>C	c.(655-657)ggA>ggC	p.G219G	LEPR_ENST00000371060.3_Silent_p.G219G|LEPR_ENST00000344610.8_Silent_p.G219G|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.G219G|LEPR_ENST00000371059.3_Silent_p.G219G	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	219					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CATCTGGTGGAGTAATTTTCC	0.378000													13	31					0	0	0.105934	0	0
FBXO31	79791	broad.mit.edu	37	16	87369778	87369778	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:87369778G>C	ENST00000311635.7	-	6	837	c.825C>G	c.(823-825)atC>atG	p.I275M		NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	275					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GACTGGTGTAGATGAACTTCA	0.617000													12	17					0	0	0.080935	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006744	30006744	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:30006744G>T	ENST00000279392.3	-	2	936	c.106C>A	c.(106-108)Cac>Aac	p.H36N	INO80E_ENST00000563197.1_5'UTR|HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.H36N	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	36					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CGGCCCGAGTGAGCTAAGTAC	0.662000													19	52					8.28177e-16	8.81427e-16	0.189662	1	0
LGR6	59352	broad.mit.edu	37	1	202288024	202288024	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:202288024G>A	ENST00000367278.3	+	18	2682	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N	LGR6_ENST00000255432.7_Missense_Mutation_p.D813N|LGR6_ENST00000439764.2_Missense_Mutation_p.D726N	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	865						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGCTCCTGTGATTCTACCCA	0.652000													33	97					0	0	0.183431	0	0
RTN3	10313	broad.mit.edu	37	11	63487851	63487851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:63487851C>A	ENST00000377819.5	+	3	2031	c.1877C>A	c.(1876-1878)tCa>tAa	p.S626*	RTN3_ENST00000339997.4_Nonsense_Mutation_p.S607*|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Nonsense_Mutation_p.S514*|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	626					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACAGAATTCTCATTAAATGTG	0.388000													40	62					5.59293e-11	5.86325e-11	0.246493	1	0
IL10	3586	broad.mit.edu	37	1	206942023	206942023	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:206942023G>A	ENST00000423557.1	-	5	553	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	165					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTATGTAGTTGATGAAGATGT	0.408000													33	31					0	0	0.203993	0	0
TIAM1	7074	broad.mit.edu	37	21	32513759	32513759	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32513759G>A	ENST00000286827.3	-	22	4010	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1120F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1180	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCCAGCGTGGATGAGTGCTG	0.577000													43	91					0	0	0.323286	0	0
FLNA	2316	broad.mit.edu	37	X	153580937	153580937	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:153580937G>A	ENST00000422373.1	-	39	6710	c.6462C>T	c.(6460-6462)ctC>ctT	p.L2154L	FLNA_ENST00000360319.4_Silent_p.L2154L|FLNA_ENST00000369856.3_Silent_p.L295L|FLNA_ENST00000344736.4_Silent_p.L2122L|FLNA_ENST00000369850.3_Silent_p.L2162L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2162					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.L2162L(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTTCAGGCTGAGGTCACAAT	0.637000													26	14					0	0	0.309145	0	0
N4BP1	9683	broad.mit.edu	37	16	48595137	48595137	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:48595137C>T	ENST00000262384.3	-	2	1653	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	473					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CCCCAGACTTCATGTTTCTGT	0.383000													30	58					0	0	0.144211	0	0
S1PR1	1901	broad.mit.edu	37	1	101704696	101704696	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:101704696C>T	ENST00000305352.6	+	2	531	c.156C>T	c.(154-156)ttC>ttT	p.F52F	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	52					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.F52L(1)|p.F52>?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGGTGGTGTTCATTCTCATCT	0.438000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	85					0	0	0.323286	0	0
CELSR3	1951	broad.mit.edu	37	3	48699002	48699002	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:48699002C>G	ENST00000544264.1	-	1	1346	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.E356Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	356	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCGGCCTCGCCGGCGTCC	0.672000													24	45					0	0	0.279207	0	0
CBFA2T3	863	broad.mit.edu	37	16	88947816	88947816	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:88947816C>T	ENST00000268679.4	-	9	1681	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E353K|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E391K|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E343K|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E343K|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	429	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).		E -> G (in dbSNP:rs1053526).		cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TTGAGCTCCTCGCGGTCGGCC	0.736000			T	RUNX1	AML								6	3					0	0	0.217242	0	0
ASTN1	460	broad.mit.edu	37	1	176983947	176983947	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:176983947G>A	ENST00000367654.2	-	8	1540	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N	ASTN1_ENST00000424564.2_Silent_p.N501N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.N501N|ASTN1_ENST00000361833.2_Silent_p.N501N			O14525	ASTN1_HUMAN	astrotactin 1	509					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCCCATTCGTTCCGAATGC	0.493000													179	419					0	0	0.323286	0	0
NDNF	79625	broad.mit.edu	37	4	121957931	121957931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:121957931G>A	ENST00000379692.4	-	4	1721	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	399										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCCACATTCTGAGACAGAAGA	0.418000													46	41					0	0	0.323286	0	0
COL5A2	1290	broad.mit.edu	37	2	189932835	189932835	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:189932835G>C	ENST00000374866.3	-	21	1581	c.1307C>G	c.(1306-1308)tCt>tGt	p.S436C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	436					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTACCTGGAGAGCCCTATTA	0.537000													34	29					0	0	0.203993	0	0
ATG2A	23130	broad.mit.edu	37	11	64662529	64662529	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:64662529C>G	ENST00000421419.2	-	41	5853	c.5739G>C	c.(5737-5739)ctG>ctC	p.L1913L	ATG2A_ENST00000377264.3_Silent_p.L1911L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1911							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						TGCCCCCGAGCAGGCTGGACG	0.706000													23	47					0	0	0.264190	0	0
SMCHD1	23347	broad.mit.edu	37	18	2724980	2724980	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:2724980C>A	ENST00000320876.6	+	21	3025	c.2687C>A	c.(2686-2688)tCt>tAt	p.S896Y	SMCHD1_ENST00000261598.8_Missense_Mutation_p.S896Y|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	896					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCTGTAAACTCTTGTCAAGGC	0.323000													10	10					0.000673444	0.000685431	0.069234	1	0
LEO1	123169	broad.mit.edu	37	15	52242003	52242003	+	Splice_Site	SNP	A	A	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:52242003A>T	ENST00000299601.5	-	10	1859		c.e10+1		LEO1_ENST00000315141.5_Splice_Site	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TACACGACTCACCTCGAATGC	0.453000													53	128					0	0	0.323286	0	0
VSTM4	196740	broad.mit.edu	37	10	50311796	50311796	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:50311796C>G	ENST00000298454.3	-	3	590	c.567G>C	c.(565-567)caG>caC	p.Q189H	VSTM4_ENST00000332853.3_Intron	NM_144984.2	NP_659421.1	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	0						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ATCAAGAACTCTGCAGGAAGG	0.488000													27	61					0	0	0.324025	0	0
ZNF658	26149	broad.mit.edu	37	9	40772752	40772752	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:40772752G>C	ENST00000602553.1	-	5	2817	c.2523C>G	c.(2521-2523)ctC>ctG	p.L841L	ZNF658_ENST00000377626.3_Silent_p.L841L|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGTGCACAGAGGTGTGTTC	0.433000													15	66					0	0	0.160694	0	0
POLQ	10721	broad.mit.edu	37	3	121258384	121258384	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:121258384G>C	ENST00000264233.5	-	4	655	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	176	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTTGATGGAGAGGTGCTGCC	0.393000								DNA polymerases (catalytic subunits)					22	48					0	0	0.234183	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174363181	174363181	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:174363181G>C	ENST00000251507.4	+	13	1782	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	RABGAP1L_ENST00000367689.3_Missense_Mutation_p.K183N|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.K499N	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	536					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTCTGGTGAAGAGTGGTGTCC	0.473000													45	123					0	0	0.323286	0	0
JPH2	57158	broad.mit.edu	37	20	42815224	42815224	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:42815224G>C	ENST00000372980.3	-	1	994	c.122C>G	c.(121-123)tCc>tGc	p.S41C	JPH2_ENST00000342272.3_Missense_Mutation_p.S41C	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	41	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAAGTTCCAGGAGCCAGAGTA	0.617000													10	24					0	0	0.069234	0	0
FBXL16	146330	broad.mit.edu	37	16	745766	745766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:745766G>T	ENST00000397621.1	-	3	1122	c.791C>A	c.(790-792)tCg>tAg	p.S264*	FBXL16_ENST00000562563.1_Nonsense_Mutation_p.S52*|FBXL16_ENST00000324361.5_Nonsense_Mutation_p.S264*	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	264										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CAGCAGCTGCGAGATGGCCGC	0.692000													7	20					0.000673444	0.000685431	0.069234	1	0
FMOD	2331	broad.mit.edu	37	1	203316478	203316478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203316478C>G	ENST00000354955.4	-	2	1384	c.921G>C	c.(919-921)aaG>aaC	p.K307N	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	307					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGGGGGATCTTCTGCAGCT	0.542000													43	132					0	0	0.301197	0	0
MYH11	4629	broad.mit.edu	37	16	15917115	15917115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:15917115G>A	ENST00000338282.6	-	3	605	c.499C>T	c.(499-501)Caa>Taa	p.Q167*	MYH11_ENST00000452625.2_Nonsense_Mutation_p.Q167*|MYH11_ENST00000300036.5_Nonsense_Mutation_p.Q167*|MYH11_ENST00000576790.1_Nonsense_Mutation_p.Q167*|MYH11_ENST00000396324.3_Nonsense_Mutation_p.Q167*	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	167	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CACTCACCTTGAAGCATGCTC	0.592000			T	CBFB	AML								25	51					0	0	0.324025	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603995	64603995	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:64603995C>G	ENST00000342711.5	-	12	1391	c.1392G>C	c.(1390-1392)ctG>ctC	p.L464L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	464					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCTTGTCCCTCAGCATCTCTG	0.637000											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	37					0	0	0.234183	0	0
LRRK2	120892	broad.mit.edu	37	12	40696615	40696615	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:40696615C>G	ENST00000298910.7	+	26	3579	c.3521C>G	c.(3520-3522)tCt>tGt	p.S1174C	LRRK2_ENST00000343742.2_Missense_Mutation_p.S1174C	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1174					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGCCTCCTTCTATGACAATC	0.269000													46	121					0	0	0.323286	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24243009	24243009	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:24243009G>A	ENST00000382263.3	+	9	1202	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E340K|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E340K|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E208K	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	340					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTCAATCCAGAACTTGAAAG	0.448000													46	40					0	0	0.323286	0	0
FAM170A	340069	broad.mit.edu	37	5	118968548	118968548	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:118968548C>G	ENST00000515256.1	+	2	348	c.176C>G	c.(175-177)tCc>tGc	p.S59C				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	59						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GAATACTGCTCCTGCGTTTCT	0.547000													33	61					0	0	0.193644	0	0
LCAT	3931	broad.mit.edu	37	16	67974294	67974294	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67974294G>C	ENST00000264005.5	-	6	865	c.836C>G	c.(835-837)tCt>tGt	p.S279C		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	279					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CGCCATGCGAGAGGGAAACAT	0.552000													34	76					0	0	0.203993	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782700	140782700	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140782700G>T	ENST00000573521.1	+	1	181	c.181G>T	c.(181-183)Gag>Tag	p.E61*	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGCGGAGCGCCGAGT	0.607000													53	86					7.41606e-26	8.11252e-26	0.323286	1	0
NSL1	25936	broad.mit.edu	37	1	212964964	212964964	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:212964964C>T	ENST00000366977.3	-	1	160	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	NSL1_ENST00000422588.2_Missense_Mutation_p.E48K|NSL1_ENST00000366975.6_Missense_Mutation_p.E48K|NSL1_ENST00000366976.1_Missense_Mutation_p.E48K	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	48					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TGTAGCATTTCGGTCACAGCC	0.652000													41	140					0	0	0.268233	0	0
ALDH7A1	501	broad.mit.edu	37	5	125918566	125918566	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:125918566C>T	ENST00000409134.3	-	5	713	c.494G>A	c.(493-495)gGa>gAa	p.G165E	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.G192E|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.G165E|ALDH7A1_ENST00000413020.1_5'UTR	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	165					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	GATAGGTCCTCCAATCATCCT	0.388000													30	27					0	0	0.163468	0	0
TTLL6	284076	broad.mit.edu	37	17	46862508	46862508	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:46862508C>G	ENST00000393382.3	-	13	1958	c.1817G>C	c.(1816-1818)aGa>aCa	p.R606T	TTLL6_ENST00000433608.2_Missense_Mutation_p.R299T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	558						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTTTCACCTCTGACACTCAA	0.527000													37	63					0	0	0.183431	0	0
FSCN3	29999	broad.mit.edu	37	7	127240257	127240257	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:127240257G>A	ENST00000265825.5	+	6	1520	c.1301G>A	c.(1300-1302)gGa>gAa	p.G434E	FSCN3_ENST00000420086.2_Silent_p.G298G	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	434						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCACAGGGGGGATCCTTCTGG	0.562000													21	41					0	0	0.219247	0	0
RET	5979	broad.mit.edu	37	10	43619153	43619153	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:43619153A>G	ENST00000355710.3	+	17	3068	c.2836A>G	c.(2836-2838)Acc>Gcc	p.T946A	RET_ENST00000340058.5_Missense_Mutation_p.T946A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	946	Protein kinase.		T -> M (in MEN2B and MTC; familial form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGAGATCGTGACCCTAGGGGG	0.612000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				73	104					0	0	0.323286	0	0
UBASH3A	53347	broad.mit.edu	37	21	43852254	43852254	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:43852254G>A	ENST00000319294.6	+	9	1244	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	UBASH3A_ENST00000398367.1_Missense_Mutation_p.E367K|UBASH3A_ENST00000291535.6_Missense_Mutation_p.E367K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	405	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCGCCACGGGGAGAGAGTGGA	0.567000													5	7					0	0	0.217242	0	0
PHF20L1	51105	broad.mit.edu	37	8	133855066	133855066	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:133855066G>A	ENST00000395386.2	+	19	2993	c.2694G>A	c.(2692-2694)atG>atA	p.M898I	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.M285I|PHF20L1_ENST00000395390.2_Missense_Mutation_p.M873I	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	898							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATTCCACATGAGAAGTAAAA	0.383000													34	78					0	0	0.203993	0	0
XPR1	9213	broad.mit.edu	37	1	180843068	180843068	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:180843068G>C	ENST00000367590.4	+	13	1996	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	XPR1_ENST00000367589.3_Missense_Mutation_p.E535Q	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	600	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCCCCACTTGAGGTTTTCCG	0.363000													22	40					0	0	0.249174	0	0
ITSN2	50618	broad.mit.edu	37	2	24522802	24522802	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:24522802C>G	ENST00000355123.4	-	12	1763	c.1320G>C	c.(1318-1320)agG>agC	p.R440S	ITSN2_ENST00000406921.3_Missense_Mutation_p.R440S|ITSN2_ENST00000361999.3_Missense_Mutation_p.R440S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	440					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTTTCTCCTTTCTTCCT	0.299000													50	18					0	0	0.323286	0	0
FAM134C	162427	broad.mit.edu	37	17	40733894	40733894	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:40733894G>C	ENST00000309428.5	-	9	1397	c.1338C>G	c.(1336-1338)gaC>gaG	p.D446E	FAM134C_ENST00000585894.1_Missense_Mutation_p.D349E|FAM134C_ENST00000543197.1_Missense_Mutation_p.D251E	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	446						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GAAGTTCAAAGTCATCCCCCT	0.587000													22	32					0	0	0.264190	0	0
KCNA2	3737	broad.mit.edu	37	1	111146834	111146834	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:111146834C>T	ENST00000485317.1	-	3	1244	c.571G>A	c.(571-573)Gag>Aag	p.E191K	KCNA2_ENST00000316361.4_Missense_Mutation_p.E191K|KCNA2_ENST00000440270.1_Missense_Mutation_p.E191K|KCNA2_ENST00000369770.3_Missense_Mutation_p.E191K|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	191						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TCTTCATTCTCATCCCGGAAG	0.493000													31	54					0	0	0.353513	0	0
P2RY13	53829	broad.mit.edu	37	3	151046746	151046746	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:151046746G>C	ENST00000325602.5	-	2	117	c.98C>G	c.(97-99)tCt>tGt	p.S33C	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	33						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GCACCGCTCAGATCTGTTGAA	0.458000													62	80					0	0	0.323286	0	0
EMC2	9694	broad.mit.edu	37	8	109462710	109462710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:109462710G>A	ENST00000220853.3	+	3	243	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		TGGTCGGGATGACTTGGCATT	0.318000													34	63					0	0	0.235728	0	0
EPHA1	2041	broad.mit.edu	37	7	143104760	143104760	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:143104760C>T	ENST00000275815.3	-	2	180	c.94G>A	c.(94-96)Gac>Aac	p.D32N		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	32						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGCTTGTGTCCATCAGAGTA	0.562000													99	149					0	0	0.323286	0	0
GDI2	2665	broad.mit.edu	37	10	5807996	5807996	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:5807996C>G	ENST00000380191.4	-	11	1601	c.1311G>C	c.(1309-1311)aaG>aaC	p.K437N	GDI2_ENST00000380181.3_Missense_Mutation_p.K392N|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.K441N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	437					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TGTCATTCTTCTTGCGCTTCA	0.338000													56	103					0	0	0.323286	0	0
TRIP12	9320	broad.mit.edu	37	2	230643289	230643289	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:230643289T>C	ENST00000283943.5	-	35	5177	c.4999A>G	c.(4999-5001)Acc>Gcc	p.T1667A	TRIP12_ENST00000389044.4_Missense_Mutation_p.T1715A|TRIP12_ENST00000389045.3_Missense_Mutation_p.T1397A	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1667					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATATACTTGGTCCCTTCTTGG	0.403000													30	39					0	0	0.144211	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586745	15586745	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15586745C>T	ENST00000292609.4	-	2	865	c.736G>A	c.(736-738)Gag>Aag	p.E246K	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.E246K			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	246					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGCAGCCCTCAGTTCCCAGG	0.617000													22	40					0	0	0.234183	0	0
TMEM42	131616	broad.mit.edu	37	3	44903512	44903512	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:44903512G>C	ENST00000302392.4	+	1	152	c.96G>C	c.(94-96)gcG>gcC	p.A32A		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	32						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		AGGCGGGTGCGATGCGGCGCC	0.741000													4	3					0	0	0.217242	0	0
ANXA6	309	broad.mit.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:150512081C>T	ENST00000354546.5	-	10	919	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ANXA6_ENST00000523714.1_Missense_Mutation_p.R199Q|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231Q|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	231						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552000													7	22					0	0	0.278610	0	0
KRT38	8687	broad.mit.edu	37	17	39595601	39595601	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:39595601C>T	ENST00000246646.3	-	3	585	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	196	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGGGAGCGCTCACTCTCCAGC	0.622000													22	46					0	0	0.294199	0	0
KCNK15	60598	broad.mit.edu	37	20	43374746	43374746	+	Silent	SNP	G	G	A	rs112757483		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:43374746G>A	ENST00000372861.3	+	1	326	c.195G>A	c.(193-195)ctG>ctA	p.L65L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	65						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGGAGCGCCTGGCGCTCCAGG	0.697000													6	11					0	0	0.248553	0	0
NELL1	4745	broad.mit.edu	37	11	21581825	21581825	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:21581825C>T	ENST00000298925.5	+	18	2114	c.1961C>T	c.(1960-1962)tCt>tTt	p.S654F	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000325319.5_Missense_Mutation_p.S569F|NELL1_ENST00000532434.1_Missense_Mutation_p.S579F|NELL1_ENST00000357134.5_Missense_Mutation_p.S626F			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	626	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTCTGCCCCTCTGGGCCCTCC	0.537000													29	24					0	0	0.163468	0	0
C7orf43	55262	broad.mit.edu	37	7	99755503	99755503	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99755503G>A	ENST00000316937.3	-	2	655	c.470C>T	c.(469-471)tCa>tTa	p.S157L	C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	157										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTATCCAGTGAAACGGTGAG	0.537000													11	29					0	0	0.080935	0	0
SLC22A16	85413	broad.mit.edu	37	6	110778028	110778028	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:110778028C>G	ENST00000368919.3	-	2	312	c.246G>C	c.(244-246)caG>caC	p.Q82H	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.Q82H|SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000456137.2_Missense_Mutation_p.Q82H	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	82					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CATAATCTTTCTGGCCTGAAG	0.488000													64	128					0	0	0.323286	0	0
HEY1	23462	broad.mit.edu	37	8	80677568	80677568	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:80677568G>A	ENST00000337919.5	-	5	975	c.782C>T	c.(781-783)tCa>tTa	p.S261L	HEY1_ENST00000523976.1_Missense_Mutation_p.S167L|HEY1_ENST00000354724.3_Missense_Mutation_p.S257L|HEY1_ENST00000435063.2_5'UTR	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	257					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GGAGGCCACTGAGGAGAGCAG	0.652000			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	6					0	0	0.217242	0	0
ENPP3	5169	broad.mit.edu	37	6	131999049	131999049	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:131999049C>G	ENST00000414305.1	+	12	1308	c.980C>G	c.(979-981)tCt>tGt	p.S327C	ENPP3_ENST00000358229.5_Missense_Mutation_p.S327C|ENPP3_ENST00000357639.3_Missense_Mutation_p.S327C|ENPP3_ENST00000427148.2_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	327	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCTGATTCCTCTGGACATGCA	0.348000													18	40					0	0	0.264190	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976891	41976904	+	Frame_Shift_Del	DEL	TGAGCAGGGCCGGG	TGAGCAGGGCCGGG	-	rs147310017		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:41976891_41976904delTGAGCAGGGCCGGG	ENST00000372584.1	-	8	7450_7463	c.6436_6449delCCCGGCCCTGCTCA	c.(6436-6450)tfs	p.PGPAH2146fs	HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.PGPAH2147fs|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.PGPAH2146fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.PGPAH2147fs|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2147	6 X 4 AA tandem repeats of S-P-X-[RK].				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)				GGAGAGAGGATGAGCAGGGCCGGGTGAGCAGGAG	0.617													13	46	---	---	---	---					
CELSR2	1952	broad.mit.edu	37	1	109811620	109811621	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:109811620_109811621delTG	ENST00000271332.3	+	19	6682_6683	c.6621_6622delTG	c.(6619-6624)tctcfs	p.SV2207fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2207					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCTGAGTCTGTCTTCAGAGG	0.599													17	32	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232649840	232649841	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:232649840_232649841delTC	ENST00000366630.1	-	2	1603_1604	c.1245_1246delGA	c.(1243-1248)gactfs	p.ET415fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Del_p.ET415fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	415					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCCCTCCAGTCTCATTTCTAA	0.520													73	258	---	---	---	---					
RP11-978I15.10	0	broad.mit.edu	37	1	247751564	247751565	+	RNA	INS	-	-	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:247751564_247751565insT	ENST00000435333.1	-	0	225				RP11-978I15.10_ENST00000446347.1_RNA																							ACATACAATACTTTTTTGGGTA	0.356													16	40	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													2	4	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													5	4	---	---	---	---					
SLC4A4	8671	broad.mit.edu	37	4	72429528	72429529	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:72429528_72429529insA	ENST00000340595.3	+	21	3182_3183	c.2986_2987insA	c.(2986-2988)aaafs	p.K996fs	SLC4A4_ENST00000264485.5_Frame_Shift_Ins_p.K1040fs|SLC4A4_ENST00000351898.6_Frame_Shift_Ins_p.K956fs|SLC4A4_ENST00000425175.1_Intron	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1040						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCCATACTCAGAAAAAGTTCCA	0.381													69	174	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													3	5	---	---	---	---					
ACTL6B	51412	broad.mit.edu	37	7	100246206	100246211	+	In_Frame_Del	DEL	GATGTC	GATGTC	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:100246206_100246211delGATGTC	ENST00000160382.5	-	7	743_748	c.637_642delGACATC	c.(637-642)del	p.DI213del		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	213					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AAGGTGGGATGATGTCAATGGCCATC	0.597													9	12	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104703989	104704002	+	Frame_Shift_Del	DEL	ACATGATGATGGAT	ACATGATGATGGAT	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:104703989_104704002delACATGATGATGGAT	ENST00000334877.4	+	5	912_925	c.378_391delACATGATGATGGAT	c.(376-393)acacfs	p.THDDGY126fs	KMT2E_ENST00000257745.4_Frame_Shift_Del_p.THDDGY126fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Frame_Shift_Del_p.THDDGY126fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.THDDGY126fs					lysine (K)-specific methyltransferase 2E																		GTGGTTTTACACATGATGATGGATACATGATCTG	0.346													23	79	---	---	---	---					
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	RNA	DEL	A	A	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373													2	4	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19247323	19247332	+	Frame_Shift_Del	DEL	CTTGAGTTTT	CTTGAGTTTT	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:19247323_19247332delCTTGAGTTTT	ENST00000527884.1	-	11	2205_2214	c.1973_1982delAAAACTCAAG	c.(1972-1983)gtfs	p.ENSS658fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.ENSS658fs|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'UTR	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	658					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAAAGAGCACTTGAGTTTTCTTTACCAGA	0.490													43	69	---	---	---	---					
TMEM132B	114795	broad.mit.edu	37	12	125834005	125834020	+	Frame_Shift_Del	DEL	GAGTCGAGGGATTGTG	GAGTCGAGGGATTGTG	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:125834005_125834020delGAGTCGAGGGATTGTG	ENST00000299308.3	+	2	68_83	c.60_75delGAGTCGAGGGATTGTG	c.(58-75)gafs	p.ESRGIV20fs	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	20						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)		CAGTGACAGAGAGTCGAGGGATTGTGGATAGCCTGC	0.472													21	120	---	---	---	---					
TNFAIP2	7127	broad.mit.edu	37	14	103592944	103592946	+	In_Frame_Del	DEL	GAA	GAA	-	rs142147196		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:103592944_103592946delGAA	ENST00000560869.1	+	2	789_791	c.150_152delGAA	c.(148-153)ggg>gg	p.GK50del	TNFAIP2_ENST00000333007.1_In_Frame_Del_p.GK50del			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	50	Lys-rich (basic).				angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TCACCAAAGGGAAGAAGAAGAAG	0.616													2	4	---	---	---	---					
ITGAE	3682	broad.mit.edu	37	17	3658507	3658507	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:3658507delC	ENST00000263087.4	-	12	1386	c.1288delG	c.(1288-1290)cgfs	p.A430fs		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	430					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TAGAGCAACGCCCCTCCGGAC	0.716													5	4	---	---	---	---					
ARHGEF1	9138	broad.mit.edu	37	19	42406794	42406803	+	Frame_Shift_Del	DEL	TGTGCCTTCG	TGTGCCTTCG	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42406794_42406803delTGTGCCTTCG	ENST00000599846.1	+	18	1902_1911	c.1777_1786delTGTGCCTTCG	c.(1777-1788)tgfs	p.CAFV593fs	ARHGEF1_ENST00000378152.4_Frame_Shift_Del_p.CAFV519fs|ARHGEF1_ENST00000337665.4_Frame_Shift_Del_p.CAFV552fs|ARHGEF1_ENST00000347545.4_Frame_Shift_Del_p.CAFV504fs|ARHGEF1_ENST00000354532.3_Frame_Shift_Del_p.CAFV537fs			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	537	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCTCGGTTCTGTGCCTTCGTGCAGGTGAG	0.624													19	43	---	---	---	---					
HRC	3270	broad.mit.edu	37	19	49657906	49657907	+	In_Frame_Ins	INS	-	-	CTG			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49657906_49657907insCTG	ENST00000252825.4	-	1	774_775	c.588_589insCAG	c.(586-591)gaagga>gaCAGagga	p.196_196E>DR	HRC_ENST00000595625.1_In_Frame_Ins_p.196_196E>DR	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	196	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcctcctcctcctcctcctctt	0.559													18	70	---	---	---	---