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
ANKRD11	29123	broad.mit.edu	37	16	89357086	89357086	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89357086C>T	ENST00000301030.4	-	6	1008	c.548G>A	c.(547-549)cGc>cAc	p.R183H	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R183H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	183						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCTTTGATGCGCCGGGCGTC	0.627000													41	59					0	0	0.014410	0	0
OR8H1	219469	broad.mit.edu	37	11	56058390	56058390	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:56058390C>T	ENST00000313022.2	-	1	176	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGGTCCAGGCGGATTATCAA	0.423000													80	115					0	0	0.014410	0	0
E2F7	144455	broad.mit.edu	37	12	77458337	77458337	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:77458337C>G	ENST00000322886.7	-	2	314	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q	E2F7_ENST00000416496.2_Missense_Mutation_p.E27Q	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	27					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						TGTGCATTTTCCCCATCTTCA	0.373000													19	58					0	0	0.010504	0	0
COL9A3	1299	broad.mit.edu	37	20	61467685	61467685	+	Splice_Site	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:61467685G>C	ENST00000343916.3	+	28	1551	c.1548G>C	c.(1546-1548)ccG>ccC	p.P516P	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	516	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CGGGAGTTCCGGTACGTCGCT	0.632000													27	43					0	0	0.008361	0	0
OBSL1	23363	broad.mit.edu	37	2	220427307	220427307	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:220427307G>A	ENST00000404537.1	-	8	2826	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W	OBSL1_ENST00000373876.1_Missense_Mutation_p.R924W|OBSL1_ENST00000373873.4_Missense_Mutation_p.R924W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R924W|OBSL1_ENST00000289656.3_Missense_Mutation_p.R511W|OBSL1_ENST00000265318.4_Missense_Mutation_p.R924W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	924	Ig-like 7.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCCCAGGGCCGGCATAGCTCA	0.652000													5	22					0	0	0.001984	0	0
OR6B1	135946	broad.mit.edu	37	7	143701527	143701527	+	Silent	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:143701527T>A	ENST00000408922.2	+	1	506	c.438T>A	c.(436-438)ctT>ctA	p.L146L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCCTCGCTCTTGGTTCCTGGG	0.562000													12	29					0	0	0.013537	0	0
DOPEY2	9980	broad.mit.edu	37	21	37665713	37665713	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:37665713C>T	ENST00000399151.3	+	37	6826	c.6741C>T	c.(6739-6741)ttC>ttT	p.F2247F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2247					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCATTCTTCATGACTCTAA	0.478000													31	33					0	0	0.008361	0	0
DLG2	1740	broad.mit.edu	37	11	84028143	84028143	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:84028143C>G	ENST00000280241.8	-	1	45	c.46G>C	c.(46-48)Gat>Cat	p.D16H	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.D16H|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCATCCCATCGGACCCCCGG	0.572000													41	140					0	0	0.006230	0	0
IL17C	27189	broad.mit.edu	37	16	88706293	88706293	+	Missense_Mutation	SNP	A	A	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:88706293A>C	ENST00000244241.4	+	3	456	c.407A>C	c.(406-408)gAt>gCt	p.D136A		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	136					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GGCTGTATCGATGCACGGACG	0.687000													11	9					0	0	0.008291	0	0
ABCC4	10257	broad.mit.edu	37	13	95840790	95840790	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr13:95840790C>T	ENST00000376887.4	-	10	1384	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	ABCC4_ENST00000412704.1_Missense_Mutation_p.E424K|ABCC4_ENST00000536256.1_Missense_Mutation_p.E349K|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.E424K	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	424	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTTGGGGTCTCTGATGCCTAC	0.418000													25	49					0	0	0.003330	0	0
SPIDR	23514	broad.mit.edu	37	8	48614292	48614292	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:48614292C>T	ENST00000297423.4	+	13	2167	c.1783C>T	c.(1783-1785)Cat>Tat	p.H595Y	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.H525Y|SPIDR_ENST00000517693.1_Missense_Mutation_p.H70Y|SPIDR_ENST00000518074.1_Missense_Mutation_p.H535Y	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		GATAAAAACTCATCTGCCTCC	0.353000													74	108					0	0	0.014410	0	0
FAM124A	220108	broad.mit.edu	37	13	51855235	51855235	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr13:51855235G>T	ENST00000322475.8	+	4	1619	c.1484G>T	c.(1483-1485)cGt>cTt	p.R495L	FAM124A_ENST00000280057.6_Missense_Mutation_p.R531L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	495										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GCGACAGCTCGTGCTGCTCCC	0.612000													28	46					1.39806e-14	1.5646e-14	0.008361	1	0
LCA5L	150082	broad.mit.edu	37	21	40783687	40783687	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:40783687A>G	ENST00000358268.2	-	7	1545	c.1017T>C	c.(1015-1017)caT>caC	p.H339H	LCA5L_ENST00000380671.2_Silent_p.H339H|LCA5L_ENST00000288350.3_Silent_p.H339H|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	339										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TAAGTATTCGATGACTATAGA	0.294000													14	30					0	0	0.004007	0	0
FOXP3	50943	broad.mit.edu	37	X	49107796	49107796	+	Nonstop_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:49107796C>G	ENST00000376207.4	-	12	1482	c.1295G>C	c.(1294-1296)tGa>tCa	p.*432S	FOXP3_ENST00000455775.2_Nonstop_Mutation_p.*405S|FOXP3_ENST00000518685.1_Nonstop_Mutation_p.*397S|FOXP3_ENST00000376197.1_Nonstop_Mutation_p.*442S|FOXP3_ENST00000557224.1_Nonstop_Mutation_p.*457S|FOXP3_ENST00000376199.2_Nonstop_Mutation_p.*397S	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	0					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					ATCTTGAGGTCAGGGGCCAGG	0.617000													9	23					0	0	0.008291	0	0
MYBL2	4605	broad.mit.edu	37	20	42320809	42320809	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:42320809T>C	ENST00000217026.4	+	6	640	c.513T>C	c.(511-513)gcT>gcC	p.A171A	MYBL2_ENST00000396863.4_Silent_p.A147A	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	171	HTH myb-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGACAATGCTGTGAAGAATC	0.562000													37	52					0	0	0.008740	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	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)			7	13					0	0	0.001984	0	0
UBE2L6	9246	broad.mit.edu	37	11	57319864	57319864	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:57319864G>A	ENST00000340573.4	-	4	837	c.231C>T	c.(229-231)ttC>ttT	p.F77F	UBE2L6_ENST00000287156.4_Silent_p.F143F	NM_198183.2	NP_937826.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	143					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						ATCGGAGGGTGAACTCTTCGG	0.572000													71	99					0	0	0.014410	0	0
FER1L6	654463	broad.mit.edu	37	8	125015577	125015577	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:125015577G>C	ENST00000522917.1	+	13	1896	c.1690G>C	c.(1690-1692)Gaa>Caa	p.E564Q	FER1L6_ENST00000399018.1_Missense_Mutation_p.E564Q|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	564						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)			ACTGGTGACAGAAGGGAACAG	0.507000													2	16					0	0	0.009096	0	0
AMT	275	broad.mit.edu	37	3	49459597	49459597	+	Silent	SNP	A	A	T	rs151231828		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:49459597A>T	ENST00000273588.3	-	2	500	c.198T>A	c.(196-198)acT>acA	p.T66T	AMT_ENST00000476226.1_5'UTR|AMT_ENST00000458307.2_Silent_p.T66T|AMT_ENST00000538581.1_Intron|AMT_ENST00000546031.1_Intron|AMT_ENST00000395338.2_Silent_p.T66T	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	66					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGTGCGAGTCAGTGTGACTGT	0.607000													18	75					0	0	0.007413	0	0
TDRD6	221400	broad.mit.edu	37	6	46656613	46656613	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:46656613G>A	ENST00000544460.1	+	1	1002	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	TDRD6_ENST00000316081.6_Missense_Mutation_p.V250M	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	250					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCAGCTGGGCGTGACGGAGGC	0.632000													20	22					0	0	0.007413	0	0
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	T	rs137852790		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:7578478G>T	ENST00000420246.2	-	5	584	c.452C>A	c.(451-453)cCc>cAc	p.P151H	TP53_ENST00000455263.2_Missense_Mutation_p.P151H|TP53_ENST00000413465.2_Missense_Mutation_p.P151H|TP53_ENST00000445888.2_Missense_Mutation_p.P151H|TP53_ENST00000269305.4_Missense_Mutation_p.P151H|TP53_ENST00000359597.4_Missense_Mutation_p.P151H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGGGCGGGGGTGTGGAATC	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	8					7.92952e-12	8.657e-12	0.003954	1	0
LRIT3	345193	broad.mit.edu	37	4	110789062	110789062	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:110789062C>A	ENST00000327908.3	+	3	1070	c.306C>A	c.(304-306)atC>atA	p.I102I	LRIT3_ENST00000379920.3_Silent_p.I240I|LRIT3_ENST00000409621.2_Silent_p.I102I|LRIT3_ENST00000594814.1_Silent_p.I285I			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	240						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCCCACAGATCACATGGACCA	0.453000													5	37					0.00198382	0.00202929	0.001984	1	0
THAP7-AS1	439931	broad.mit.edu	37	22	21357276	21357276	+	RNA	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:21357276C>T	ENST00000452284.1	+	0	622				THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1																						TCGCGGGCCTCGGAGAATTCC	0.607000													19	24					0	0	0.008871	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73186565	73186565	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:73186565C>T	ENST00000286657.4	-	7	1004	c.968G>A	c.(967-969)gGa>gAa	p.G323E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	323	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGATGGGTTTCCCCTTTCTAT	0.428000													5	16					0	0	0.001168	0	0
MDH1B	130752	broad.mit.edu	37	2	207620047	207620047	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:207620047G>A	ENST00000374412.3	-	5	871	c.596C>T	c.(595-597)aCg>aTg	p.T199M	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.T199M|MDH1B_ENST00000449792.1_Missense_Mutation_p.T101M	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	199					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTCCACCTTCGTGCAGATGGA	0.572000													10	29					0	0	0.010729	0	0
DOCK2	1794	broad.mit.edu	37	5	169477279	169477279	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:169477279G>T	ENST00000256935.8	+	41	4171	c.4091G>T	c.(4090-4092)cGc>cTc	p.R1364L	DOCK2_ENST00000540750.1_Missense_Mutation_p.R425L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R856L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1364	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATCTACCGCGGGAAGGAA	0.502000													35	70					1.42033e-22	1.62519e-22	0.004289	1	0
KRT39	390792	broad.mit.edu	37	17	39116697	39116697	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:39116697C>T	ENST00000355612.2	-	6	1088	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	351	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGATCTGGGTCAGCAAGGCCG	0.502000													45	85					0	0	0.014410	0	0
CIRH1A	84916	broad.mit.edu	37	16	69199282	69199282	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:69199282T>C	ENST00000563094.1	+	15	1720	c.1686T>C	c.(1684-1686)gaT>gaC	p.D562D	CIRH1A_ENST00000314423.7_Silent_p.D562D|CIRH1A_ENST00000352319.4_Silent_p.D447D			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	562						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGTATACAGATTGGAGCCGGA	0.488000													32	44					0	0	0.003755	0	0
ZXDB	158586	broad.mit.edu	37	X	57619922	57619922	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:57619922G>A	ENST00000374888.1	+	1	1654	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	481	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCACGACGATGACCGGAGGTT	0.517000													53	76					0	0	0.014410	0	0
PRPF4	9128	broad.mit.edu	37	9	116053237	116053237	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr9:116053237G>T	ENST00000374199.4	+	13	1714	c.1313G>T	c.(1312-1314)cGg>cTg	p.R438L	PRPF4_ENST00000374198.4_Missense_Mutation_p.R439L			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	439						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CTCCGACAGCGGCGTTGCGTC	0.468000													40	15					1.49673e-21	1.7017e-21	0.006230	1	0
LRP1	4035	broad.mit.edu	37	12	57550039	57550039	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:57550039A>G	ENST00000243077.3	+	9	1856	c.1390A>G	c.(1390-1392)Atc>Gtc	p.I464V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	464					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)	TGCCCTCCACATCTACCACCA	0.607000													8	39					0	0	0.003080	0	0
RREB1	6239	broad.mit.edu	37	6	7230402	7230402	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:7230402G>T	ENST00000379938.2	+	10	2607	c.2070G>T	c.(2068-2070)ctG>ctT	p.L690L	RREB1_ENST00000379933.3_Silent_p.L690L|RREB1_ENST00000349384.6_Silent_p.L690L|RREB1_ENST00000334984.6_Silent_p.L690L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	690					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCCGCCACCTGCGCACGCACA	0.627000													17	39					8.60227e-14	9.59691e-14	0.004007	1	0
CACNA1C	775	broad.mit.edu	37	12	2786965	2786965	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:2786965G>A	ENST00000399655.1	+	41	5288	c.5023G>A	c.(5023-5025)Gct>Act	p.A1675T	CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1675T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1675T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1700T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A1723T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1692T|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1681T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1703T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1683T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1694T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1683T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1694T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1694T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1716T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1695T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1675T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1675T	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	1723					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)	AGATCTCACCGCTGAGGAGGA	0.612000													30	18					0	0	0.008361	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064707	78064707	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:78064707G>C	ENST00000299642.4	+	3	675	c.590G>C	c.(589-591)aGa>aCa	p.R197T	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.R188T|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	188			Q -> K (in dbSNP:rs2072663).		skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AGCAGCAAGAGATACATATGC	0.483000													7	41					0	0	0.003080	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626566	1626566	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:1626566G>T	ENST00000421627.2	+	9	2369	c.2235G>T	c.(2233-2235)ggG>ggT	p.G745G	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	824					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACCCAGGGGCTCTTCAGCT	0.632000													10	32					1.61879e-10	1.75656e-10	0.013537	1	0
DNM2	1785	broad.mit.edu	37	19	10883300	10883300	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:10883300A>G	ENST00000314646.5	+	3	545	c.381A>G	c.(379-381)ccA>ccG	p.P127P	DNM2_ENST00000359692.6_Silent_p.P127P|DNM2_ENST00000585892.1_Silent_p.P127P|DNM2_ENST00000389253.4_Silent_p.P127P|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Silent_p.P127P|DNM2_ENST00000355667.6_Silent_p.P127P			P50570	DYN2_HUMAN	dynamin 2	127					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCTACTCGCCACACGGTAGGC	0.562000			"""F, N, Splice, Mis, O"""		ETP ALL								17	11					0	0	0.006122	0	0
ALPK3	57538	broad.mit.edu	37	15	85401422	85401422	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:85401422C>T	ENST00000258888.5	+	6	4226	c.4059C>T	c.(4057-4059)ctC>ctT	p.L1353L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1353					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)			TGACAGGTCTCCCGGCAGCTA	0.642000													3	14					0	0	0.000602	0	0
DNAH10	196385	broad.mit.edu	37	12	124341734	124341734	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:124341734C>T	ENST00000409039.3	+	36	6241	c.6216C>T	c.(6214-6216)gaC>gaT	p.D2072D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2072					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACCCTGACTTCAACGATG	0.532000													17	54					0	0	0.004990	0	0
ANGEL1	23357	broad.mit.edu	37	14	77273074	77273074	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:77273074G>T	ENST00000251089.2	-	5	1177	c.1065C>A	c.(1063-1065)ggC>ggA	p.G355G		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	355										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GTAGCTCCAAGCCAGGCCGGA	0.572000													108	130					1.73998e-50	2.04333e-50	0.014410	1	0
OSBPL3	26031	broad.mit.edu	37	7	24911680	24911680	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:24911680C>G	ENST00000313367.2	-	3	556	c.105G>C	c.(103-105)tgG>tgC	p.W35C	OSBPL3_ENST00000353930.1_Missense_Mutation_p.W35C|OSBPL3_ENST00000396431.1_Missense_Mutation_p.W35C|OSBPL3_ENST00000409069.1_Missense_Mutation_p.W35C|OSBPL3_ENST00000352860.1_Missense_Mutation_p.W35C|OSBPL3_ENST00000396429.1_Missense_Mutation_p.W35C|OSBPL3_ENST00000431825.2_Missense_Mutation_p.W35C	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	35					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCACCACTTCCCAGCTGTCCT	0.403000													12	37					0	0	0.003163	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378362	18378362	+	Translation_Start_Site	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:18378362G>T	ENST00000600359.3	-	0	233				KIAA1683_ENST00000392413.4_Intron|KIAA1683_ENST00000600328.3_Intron	NM_001145305.1|NM_025249.3	NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGGGTGGTCAGGGTGTAGCAG	0.637000													40	11					2.75727e-19	3.11502e-19	0.004878	1	0
FZD3	7976	broad.mit.edu	37	8	28378298	28378298	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:28378298G>A	ENST00000240093.3	+	4	811	c.333G>A	c.(331-333)tcG>tcA	p.S111S	FZD3_ENST00000537916.1_Silent_p.S111S	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	111	FZ.				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GTGAGTGTTCGAAGCTCATGG	0.443000													36	102					0	0	0.003755	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	31					0	0	0.000602	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	33					0	0	0.003080	0	0
OR4A16	81327	broad.mit.edu	37	11	55110736	55110736	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:55110736T>A	ENST00000314721.2	+	1	110	c.60T>A	c.(58-60)gaT>gaA	p.D20E		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AAGATCCTGATGTGAAAAAAA	0.413000													6	9					0	0	0.001168	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184817	175184817	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:175184817G>A	ENST00000454872.1	+	8	1506	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	460					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAGTTATAATGGACAAGAATG	0.403000													61	142					0	0	0.014410	0	0
ACOT2	10965	broad.mit.edu	37	14	74040235	74040235	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:74040235G>C	ENST00000238651.5	+	2	969	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	ACOT2_ENST00000538782.1_Missense_Mutation_p.E66Q	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	263					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CAAGACCATGGAGACGCTCCA	0.488000													60	101					0	0	0.014410	0	0
DMBT1	1755	broad.mit.edu	37	10	124399605	124399605	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:124399605C>T	ENST00000368909.3	+	52	6711	c.6605C>T	c.(6604-6606)tCa>tTa	p.S2202L	DMBT1_ENST00000368955.3_Missense_Mutation_p.S2192L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2192L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S922L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1574L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1574L|DMBT1_ENST00000338354.3_Missense_Mutation_p.S2202L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2202	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGCTGTCTCAGGTGGCATC	0.522000													31	30					0	0	0.008361	0	0
NEK8	284086	broad.mit.edu	37	17	27065197	27065197	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:27065197G>A	ENST00000268766.6	+	8	1190	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	386						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GCGTTTCCTGGAGGGCCAGTC	0.657000													16	31					0	0	0.007413	0	0
CHUK	1147	broad.mit.edu	37	10	101977825	101977825	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:101977825C>G	ENST00000370397.7	-	9	946	c.860G>C	c.(859-861)aGa>aCa	p.R287T		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	287	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AGGTCCTCCTCTCTGCTGAGG	0.373000													12	7					0	0	0.010729	0	0
COBLL1	22837	broad.mit.edu	37	2	165551575	165551575	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:165551575G>C	ENST00000375458.2	-	11	2548	c.2327C>G	c.(2326-2328)aCt>aGt	p.T776S	COBLL1_ENST00000392717.2_Missense_Mutation_p.T852S|COBLL1_ENST00000409184.3_Missense_Mutation_p.T814S|COBLL1_ENST00000194871.6_Missense_Mutation_p.T881S|COBLL1_ENST00000342193.4_Missense_Mutation_p.T814S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	852										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTGGATGGCAGTTTCTTTCAC	0.428000													25	30					0	0	0.002780	0	0
SCAMP3	10067	broad.mit.edu	37	1	155226174	155226174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155226174G>A	ENST00000355379.3	-	8	1134	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Nonsense_Mutation_p.Q312*	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	312					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGGCCTTCTGAAAGCTGGCA	0.582000													46	236					0	0	0.014410	0	0
CDK11A	728642	broad.mit.edu	37	1	1634992	1634992	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:1634992G>A	ENST00000356200.3	-	17	2115	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	CDK11A_ENST00000404249.3_Silent_p.F661F|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Silent_p.F651F|CDK11A_ENST00000357760.2_Silent_p.F660F|CDK11A_ENST00000378638.2_Silent_p.F627F|CDK11A_ENST00000378633.1_Silent_p.F664F					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GGTGCTCGCTGAAGGTCATCT	0.587000													4	15					0	0	0.000602	0	0
MTUS1	57509	broad.mit.edu	37	8	17573306	17573306	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:17573306G>C	ENST00000381869.3	-	4	2865	c.2392C>G	c.(2392-2394)Cat>Gat	p.H798D	MTUS1_ENST00000519263.1_Missense_Mutation_p.H798D|MTUS1_ENST00000381861.3_Missense_Mutation_p.H99D|MTUS1_ENST00000262102.6_Missense_Mutation_p.H852D|MTUS1_ENST00000544260.1_5'UTR	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	852						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AAGTGAACATGAGCCCTGGAT	0.428000													35	142					0	0	0.004289	0	0
MTHFD2	10797	broad.mit.edu	37	2	74432979	74432979	+	Silent	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:74432979C>G	ENST00000394053.2	+	2	329	c.249C>G	c.(247-249)tcC>tcG	p.S83S	MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000409601.1_Silent_p.S83S|MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000409804.1_Silent_p.S83S|MTHFD2_ENST00000477455.1_3'UTR	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	83					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CAAGTCACTCCTATGTCCTCA	0.532000													41	56					0	0	0.014410	0	0
UTP20	27340	broad.mit.edu	37	12	101745949	101745949	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:101745949G>C	ENST00000261637.4	+	39	5175	c.5001G>C	c.(4999-5001)caG>caC	p.Q1667H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1667					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAACGGGACAGATCAATCAAA	0.353000													12	43					0	0	0.001855	0	0
SNRPB	6628	broad.mit.edu	37	20	2443347	2443347	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:2443347G>C	ENST00000339610.6	-	7	838	c.383C>G	c.(382-384)cCt>cGt	p.P128R	SNRPB_ENST00000381342.2_Missense_Mutation_p.P207R|SNRPB_ENST00000438552.2_Missense_Mutation_p.P207R			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	207					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCTCTTCCAGGGGGGATCCC	0.587000													24	80					0	0	0.014323	0	0
NRP2	8828	broad.mit.edu	37	2	206588590	206588590	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:206588590T>G	ENST00000360409.3	+	5	1537	c.746T>G	c.(745-747)tTt>tGt	p.F249C	NRP2_ENST00000412873.2_Missense_Mutation_p.F249C|NRP2_ENST00000540178.1_Missense_Mutation_p.F249C|NRP2_ENST00000357785.5_Missense_Mutation_p.F249C|NRP2_ENST00000272849.3_Missense_Mutation_p.F249C|NRP2_ENST00000540841.1_Missense_Mutation_p.F249C|NRP2_ENST00000355117.4_Missense_Mutation_p.F249C|NRP2_ENST00000417189.1_Missense_Mutation_p.F249C|NRP2_ENST00000357118.4_Missense_Mutation_p.F249C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	249	CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCCTGACCTTTCACACGGAC	0.552000													15	16					0	0	0.003163	0	0
PNLIP	5406	broad.mit.edu	37	10	118305637	118305637	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:118305637G>A	ENST00000369221.2	+	2	61	c.33G>A	c.(31-33)ctG>ctA	p.L11L	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	11					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CACTGCTGCTGGGAGCAGTAG	0.433000													13	25					0	0	0.001855	0	0
ANAPC1	64682	broad.mit.edu	37	2	112588951	112588951	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:112588951T>G	ENST00000341068.3	-	21	3309	c.2537A>C	c.(2536-2538)cAg>cCg	p.Q846P		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	846					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACTCACCCACTGATAAATACT	0.383000													19	32					0	0	0.002780	0	0
LYST	1130	broad.mit.edu	37	1	235973787	235973787	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:235973787T>A	ENST00000389794.3	-	5	505	c.331A>T	c.(331-333)Aac>Tac	p.N111Y	LYST_ENST00000389793.2_Missense_Mutation_p.N111Y|LYST_ENST00000536965.1_Missense_Mutation_p.N111Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	111					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAACTTGAGTTCTTTTCTTTG	0.348000													33	9					0	0	0.012213	0	0
RFWD3	55159	broad.mit.edu	37	16	74695239	74695239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:74695239G>A	ENST00000361070.4	-	2	206	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	RFWD3_ENST00000571750.1_Nonsense_Mutation_p.Q37*	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	37					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GGAACAGGCTGGAGGAGGGCT	0.587000													93	124					0	0	0.014410	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													3	43					0	0	0.009096	0	0
RSU1	6251	broad.mit.edu	37	10	16824066	16824066	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:16824066T>C	ENST00000377921.3	-	2	428	c.127A>G	c.(127-129)Aca>Gca	p.T43A	RSU1_ENST00000345264.5_Missense_Mutation_p.T43A|RSU1_ENST00000464074.2_Intron|RSU1_ENST00000602389.1_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1	43					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ACCAGTTGTGTGATATGGGAT	0.373000													8	35					0	0	0.004482	0	0
PLK2	10769	broad.mit.edu	37	5	57755666	57755666	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:57755666C>T	ENST00000274289.3	-	1	421	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	41					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGCTGCGATTCCTCGGGGGGC	0.677000													19	7					0	0	0.008871	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656252	40656252	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:40656252G>A	ENST00000406785.2	-	2	1358	c.1169C>T	c.(1168-1170)gCt>gTt	p.A390V	SLC8A1_ENST00000332839.4_Missense_Mutation_p.A390V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A390V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A390V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A390V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A390V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A390V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A390V|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A390V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A390V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATGCTGACAGCCTTCCTTGC	0.453000													8	15					0	0	0.006214	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				10	17					0	0	0.004007	0	0
MYO1C	4641	broad.mit.edu	37	17	1381474	1381474	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:1381474G>A	ENST00000359786.5	-	12	1632	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	MYO1C_ENST00000361007.2_Silent_p.F401F|MYO1C_ENST00000575158.1_Silent_p.F401F|MYO1C_ENST00000438665.2_Silent_p.F417F|MYO1C_ENST00000545534.2_Silent_p.F412F	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	436	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AATTGATGCAGAACTGCTCAA	0.582000													32	14					0	0	0.009535	0	0
CTNND2	1501	broad.mit.edu	37	5	11022943	11022943	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:11022943C>T	ENST00000304623.8	-	17	3126	c.2937G>A	c.(2935-2937)aaG>aaA	p.K979K	CTNND2_ENST00000359640.2_Silent_p.K921K|CTNND2_ENST00000511377.1_Silent_p.K888K|CTNND2_ENST00000503622.1_Silent_p.K642K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.K546K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	979					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCCGTAAGGCCTTGGCGTTCT	0.512000													9	28					0	0	0.008291	0	0
LANCL2	55915	broad.mit.edu	37	7	55468950	55468950	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:55468950G>C	ENST00000254770.2	+	5	1340	c.762G>C	c.(760-762)tgG>tgC	p.W254C		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	254					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TGTACCAGTGGCACCGGAAGC	0.438000													45	55					0	0	0.014410	0	0
FAT2	2196	broad.mit.edu	37	5	150946090	150946090	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:150946090G>A	ENST00000261800.5	-	1	2415	c.2403C>T	c.(2401-2403)tcC>tcT	p.S801S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	801	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCCAGGAGGACTTCTGGG	0.512000													46	10					0	0	0.014410	0	0
ASPM	259266	broad.mit.edu	37	1	197112811	197112811	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:197112811G>A	ENST00000367409.4	-	3	827	c.571C>T	c.(571-573)Cca>Tca	p.P191S	ASPM_ENST00000294732.7_Missense_Mutation_p.P191S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	191					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						GCTTGTAGTGGGCTCCTAACT	0.353000													85	14					0	0	0.014410	0	0
TLR7	51284	broad.mit.edu	37	X	12904760	12904760	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:12904760G>C	ENST00000380659.3	+	3	1272	c.1133G>C	c.(1132-1134)aGa>aCa	p.R378T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	378					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTGCGGATCAGAGGATATGTC	0.338000													14	83					0	0	0.001855	0	0
MIR17HG	407975	broad.mit.edu	37	13	92002999	92002999	+	RNA	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr13:92002999G>T	ENST00000362310.2	+	0	3					NR_029488.1																						GATGTTGAGTGCTTTTTGTTC	0.453000													46	83					7.05377e-20	7.99427e-20	0.014410	1	0
NCAPG	64151	broad.mit.edu	37	4	17816575	17816575	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:17816575G>T	ENST00000251496.2	+	4	820	c.644G>T	c.(643-645)gGg>gTg	p.G215V		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	215					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AAAATTGTAGGGCGCACCAAG	0.403000													36	47					4.00102e-26	4.63754e-26	0.006230	1	0
DOPEY2	9980	broad.mit.edu	37	21	37665692	37665692	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:37665692C>T	ENST00000399151.3	+	37	6805	c.6720C>T	c.(6718-6720)atC>atT	p.I2240I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2240					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCCAGCATCAGGCAGTTGA	0.458000													27	29					0	0	0.003954	0	0
SPAG17	200162	broad.mit.edu	37	1	118640299	118640299	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:118640299C>T	ENST00000336338.5	-	7	1070	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	335						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACCATCATCTCACCATCTG	0.393000													6	18					0	0	0.004482	0	0
TRERF1	55809	broad.mit.edu	37	6	42231063	42231063	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:42231063C>G	ENST00000541110.1	-	8	2447	c.1879G>C	c.(1879-1881)Gtg>Ctg	p.V627L	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Missense_Mutation_p.V627L|TRERF1_ENST00000354325.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	627	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCACGAGCACAGGCATCTCG	0.682000													31	80					0	0	0.003755	0	0
MLLT6	4302	broad.mit.edu	37	17	36872640	36872640	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:36872640C>G	ENST00000325718.7	+	10	1148	c.1057C>G	c.(1057-1059)Cct>Gct	p.P353A	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	353					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCAGAGCTCCCCTGACTTCTC	0.637000			T	MLL	AL								18	28					0	0	0.007413	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204412707	204412707	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:204412707G>A	ENST00000367187.3	-	20	3442	c.2886C>T	c.(2884-2886)ctC>ctT	p.L962L	PIK3C2B_ENST00000424712.2_Silent_p.L934L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	962					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGAGTCCTTGAGGCCGTCCT	0.587000													151	24					0	0	0.014410	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802570	24802570	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:24802570C>T	ENST00000395799.3	+	6	2736	c.2607C>T	c.(2605-2607)gcC>gcT	p.A869A	TNRC6A_ENST00000315183.7_Silent_p.A869A	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	869	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGGTGAGGCCAATAAGAAAT	0.463000													5	48					0	0	0.000602	0	0
XDH	7498	broad.mit.edu	37	2	31562461	31562461	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:31562461C>T	ENST00000379416.3	-	34	3716	c.3668G>A	c.(3667-3669)cGt>cAt	p.R1223H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1223					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCTAGGGCCACGGGTGTGCAG	0.597000													35	56					0	0	0.003271	0	0
DGCR5	26220	broad.mit.edu	37	22	19001938	19001938	+	RNA	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:19001938G>A	ENST00000440005.2	+	0	757				DGCR5_ENST00000424407.1_RNA																							TAAAGGGAAGGAAAGCTCCTG	0.488000													20	17					0	0	0.012319	0	0
PRKAR1B	5575	broad.mit.edu	37	7	624145	624145	+	Splice_Site	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:624145C>G	ENST00000406797.1	-	8	943	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	PRKAR1B_ENST00000537384.1_Splice_Site_p.E257Q|PRKAR1B_ENST00000544935.1_Splice_Site_p.E257Q|PRKAR1B_ENST00000360274.4_Splice_Site_p.E257Q|PRKAR1B_ENST00000403562.1_Splice_Site_p.E257Q	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	257					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGCCACTGACCTAGGATGGAG	0.592000													10	17					0	0	0.008291	0	0
LILRB5	10990	broad.mit.edu	37	19	54754901	54754901	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:54754901T>C	ENST00000450632.1	-	13	1811	c.1734A>G	c.(1732-1734)gcA>gcG	p.A578A	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	378					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTCTTCTGCCTGTCTGT	0.587000													4	26					0	0	0.013537	0	0
CCDC18	343099	broad.mit.edu	37	1	93646208	93646208	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:93646208C>T	ENST00000557479.1	+	1	289	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|TMED5_ENST00000370282.3_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										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)		CCCGCGCCTTCGGCGGCGCCT	0.721000													20	9					0	0	0.007413	0	0
RHOB	388	broad.mit.edu	37	2	20647740	20647740	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:20647740G>A	ENST00000272233.4	+	1	906	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	172					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGAGGTCTTCGAGACGGCCAC	0.687000													58	75					0	0	0.014410	0	0
DCST1	149095	broad.mit.edu	37	1	155013956	155013956	+	Silent	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155013956G>T	ENST00000295542.1	+	7	711	c.615G>T	c.(613-615)acG>acT	p.T205T	DCST1_ENST00000423025.2_Silent_p.T180T|DCST1_ENST00000392480.1_Silent_p.T205T|DCST1_ENST00000368419.2_Silent_p.T205T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	205						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ATAGTGAGACGGGCTACACGC	0.587000													12	87					6.42651e-13	7.08106e-13	0.010729	1	0
CDC7	8317	broad.mit.edu	37	1	91967346	91967346	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:91967346G>A	ENST00000428239.1	+	2	332	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	CDC7_ENST00000430031.2_Missense_Mutation_p.E25K|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.E25K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	25					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GTTTCAGGCTGAAGGCTCTTT	0.413000													24	90					0	0	0.003954	0	0
DGKQ	1609	broad.mit.edu	37	4	955317	955317	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:955317C>T	ENST00000273814.3	-	21	2585	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	838					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGTGGCTTCTCAAACCTGGTG	0.701000													9	12					0	0	0.008291	0	0
PIGG	54872	broad.mit.edu	37	4	509942	509942	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:509942T>A	ENST00000453061.2	+	6	1188	c.1082T>A	c.(1081-1083)cTg>cAg	p.L361Q	PIGG_ENST00000310340.5_Missense_Mutation_p.L361Q|PIGG_ENST00000503111.1_Missense_Mutation_p.L272Q|PIGG_ENST00000536264.1_Missense_Mutation_p.L239Q|PIGG_ENST00000509768.1_Missense_Mutation_p.L272Q|PIGG_ENST00000296306.7_Missense_Mutation_p.L272Q|PIGG_ENST00000383028.4_Missense_Mutation_p.L228Q|PIGG_ENST00000504346.1_Missense_Mutation_p.L272Q	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	361					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTTAGTAAACTGTTGCAAGAG	0.453000													42	55					0	0	0.008740	0	0
MUC17	140453	broad.mit.edu	37	7	100685857	100685857	+	Silent	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:100685857C>G	ENST00000306151.4	+	3	11224	c.11160C>G	c.(11158-11160)gtC>gtG	p.V3720V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3720	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTCTGTTGTCACCAGCACAC	0.507000													80	106					0	0	0.014410	0	0
OTOGL	283310	broad.mit.edu	37	12	80665530	80665530	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:80665530C>A	ENST00000458043.2	+	23	2600	c.2594C>A	c.(2593-2595)gCc>gAc	p.A865D	OTOGL_ENST00000547103.1_Missense_Mutation_p.A865D	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCAAACCTAGCCATGAACTTC	0.473000													3	9					0.00829132	0.00840909	0.008291	1	0
CD84	8832	broad.mit.edu	37	1	160520800	160520800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:160520800G>T	ENST00000368054.3	-	5	821	c.786C>A	c.(784-786)taC>taA	p.Y262*	CD84_ENST00000534968.1_Nonsense_Mutation_p.Y148*|CD84_ENST00000368048.3_Nonsense_Mutation_p.Y273*|CD84_ENST00000311224.4_Nonsense_Mutation_p.Y279*|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Intron	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	279					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGATATATGTGTATATGGTTT	0.423000													40	79					2.26627e-22	2.58486e-22	0.007835	1	0
ENTHD1	150350	broad.mit.edu	37	22	40283688	40283688	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:40283688C>G	ENST00000325157.6	-	2	315	c.65G>C	c.(64-66)aGg>aCg	p.R22T		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	22	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGTTGCTTCCCTGACTTTTAT	0.388000													15	48					0	0	0.003163	0	0
PLIN4	729359	broad.mit.edu	37	19	4512576	4512576	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:4512576T>C	ENST00000301286.3	-	3	1353	c.1354A>G	c.(1354-1356)Aag>Gag	p.K452E		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	452	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACAGTGTCCTTGGTACCAGTT	0.577000													91	24					0	0	0.014410	0	0
INSM1	3642	broad.mit.edu	37	20	20349839	20349839	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:20349839C>G	ENST00000310227.1	+	1	1075	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	310					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CCCGGCCAACCTGGCCTCGCA	0.746000													7	7					0	0	0.003080	0	0
BIRC6	57448	broad.mit.edu	37	2	32626345	32626345	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:32626345T>C	ENST00000421745.2	+	7	1283	c.1149T>C	c.(1147-1149)gaT>gaC	p.D383D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	383					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTGTACGGATGGAACTGACA	0.473000													85	130					0	0	0.014410	0	0
MEP1B	4225	broad.mit.edu	37	18	29797900	29797900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:29797900C>A	ENST00000269202.6	+	14	2110	c.2063C>A	c.(2062-2064)tCa>tAa	p.S688*	MEP1B_ENST00000581447.1_Nonsense_Mutation_p.S688*	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	688					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGGATGAGCTCAAATCGACCA	0.393000													3	22					2.56e-06	2.68012e-06	0.009096	1	0
CAST	831	broad.mit.edu	37	5	96100940	96100940	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:96100940C>A	ENST00000395813.1	+	26	2134	c.1948C>A	c.(1948-1950)Ctc>Atc	p.L650I	CAST_ENST00000359176.4_Missense_Mutation_p.L631I|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000509903.1_Missense_Mutation_p.L532I|CAST_ENST00000511049.1_Missense_Mutation_p.L552I|CAST_ENST00000515663.1_Missense_Mutation_p.L290I|CAST_ENST00000504465.1_Missense_Mutation_p.L495I|CAST_ENST00000510756.1_Missense_Mutation_p.L628I|CAST_ENST00000341926.3_Missense_Mutation_p.L567I|CAST_ENST00000338252.3_Missense_Mutation_p.L554I|CAST_ENST00000511782.1_Missense_Mutation_p.L553I|CAST_ENST00000508608.1_Missense_Mutation_p.L613I|CAST_ENST00000508830.1_Missense_Mutation_p.L650I|CAST_ENST00000325674.7_Missense_Mutation_p.L615I|CAST_ENST00000395812.2_Missense_Mutation_p.L609I|CAST_ENST00000508579.1_Missense_Mutation_p.L282I|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.L545I	NM_001284213.1	NP_001271142.1	P20810	ICAL_HUMAN	calpastatin	567							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	p.L545I(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGACAAAGACCTCGATGATGC	0.403000													17	8					1.15088e-07	1.22646e-07	0.004007	1	0
STAG2	10735	broad.mit.edu	37	X	123182853	123182853	+	Splice_Site	SNP	A	A	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:123182853A>C	ENST00000371160.1	+	10	1109		c.e10-1		STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000371144.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTTTTTTTACAGCTTCAGGAA	0.308000													24	26					0	0	0.002780	0	0
MMP19	4327	broad.mit.edu	37	12	56236139	56236139	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:56236139C>A	ENST00000322569.4	-	2	262	c.171G>T	c.(169-171)ctG>ctT	p.L57L	MMP19_ENST00000548629.1_Silent_p.L57L|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000409200.3_Silent_p.L57L	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	57					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CTTCTCACCTCAGAGCCTCGG	0.502000													24	74					1.64293e-13	1.82151e-13	0.003330	1	0
HPCAL4	51440	broad.mit.edu	37	1	40150121	40150121	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:40150121T>A	ENST00000372844.3	-	2	546	c.155A>T	c.(154-156)tAc>tTc	p.Y52F		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	52	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACCTTGATGTAGAGCTGCTG	0.632000													14	14					0	0	0.006122	0	0
EML2	24139	broad.mit.edu	37	19	46141893	46141893	+	Splice_Site	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:46141893C>A	ENST00000536630.1	-	6	629		c.e6-1		EML2_ENST00000587152.1_Splice_Site|EML2_ENST00000589876.1_Splice_Site|EML2_ENST00000245925.3_Splice_Site	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2						sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAGCCATCCTCTGCCAGGACA	0.557000													22	86					1.85244e-09	1.99193e-09	0.003330	1	0
CCDC173	129881	broad.mit.edu	37	2	170505817	170505817	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:170505817C>T	ENST00000447353.1	-	8	1297	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TCTTTAGCCTCTATTTTTCTT	0.343000													12	30					0	0	0.002450	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475276	42475276	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:42475276G>A	ENST00000434000.1	-	9	4217	c.3935C>T	c.(3934-3936)gCc>gTc	p.A1312V	GPATCH8_ENST00000591680.1_Missense_Mutation_p.A1390V			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1390						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AATGCCGATGGCGGCAGCAGC	0.577000													6	38					0	0	0.001984	0	0
OR5L2	26338	broad.mit.edu	37	11	55595538	55595538	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:55595538A>T	ENST00000378397.1	+	1	844	c.844A>T	c.(844-846)Att>Ttt	p.I282F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACAGTTGTGATTCCCATGCT	0.463000										HNSCC(27;0.073)			8	9					0	0	0.006214	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20205975	20205975	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:20205975C>T	ENST00000379565.3	-	9	952	c.745G>A	c.(745-747)Gct>Act	p.A249T	RPS6KA3_ENST00000379548.4_Missense_Mutation_p.A220T|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.A221T|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.A221T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	249	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CACCAGTCAGCACTCTGAGTA	0.393000													41	71					0	0	0.008740	0	0
CYP26B1	56603	broad.mit.edu	37	2	72371249	72371249	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:72371249C>T	ENST00000001146.2	-	2	501	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	100					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGCACGTTCTCCGCGCCGGTC	0.637000													35	59					0	0	0.012213	0	0
EGFR	1956	broad.mit.edu	37	7	55224469	55224469	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:55224469C>G	ENST00000275493.2	+	10	1328	c.1151C>G	c.(1150-1152)aCt>aGt	p.T384S	EGFR_ENST00000342916.3_Missense_Mutation_p.T384S|EGFR_ENST00000454757.2_Missense_Mutation_p.T331S|EGFR_ENST00000442591.1_Missense_Mutation_p.T384S|EGFR_ENST00000344576.2_Missense_Mutation_p.T384S|EGFR_ENST00000420316.2_Missense_Mutation_p.T384S|EGFR_ENST00000455089.1_Missense_Mutation_p.T339S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	384					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTCACACATACTCCTCCTCTG	0.373000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			18	85					0	0	0.007413	0	0
TTLL2	83887	broad.mit.edu	37	6	167755014	167755014	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:167755014G>C	ENST00000239587.5	+	3	1714	c.1626G>C	c.(1624-1626)ctG>ctC	p.L542L		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	542					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGTGTGTCCTGTCAGACCGTG	0.532000													32	14					0	0	0.004289	0	0
TDRD6	221400	broad.mit.edu	37	6	46661470	46661470	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:46661470C>G	ENST00000544460.1	+	1	5859	c.5605C>G	c.(5605-5607)Cta>Gta	p.L1869V	TDRD6_ENST00000316081.6_Missense_Mutation_p.L1869V	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1869					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAAGGGGAGCTAAGCCCGGT	0.478000													8	43					0	0	0.003080	0	0
SMG9	56006	broad.mit.edu	37	19	44251840	44251840	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:44251840A>G	ENST00000601170.1	-	4	749	c.435T>C	c.(433-435)ccT>ccC	p.P145P	SMG9_ENST00000270066.6_Silent_p.P145P			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	145					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TCTGGTACACAGGCTGTGTGG	0.677000													6	18					0	0	0.001168	0	0
IKBIP	121457	broad.mit.edu	37	12	99038453	99038453	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:99038453C>A	ENST00000299157.4	-	1	400	c.27G>T	c.(25-27)aaG>aaT	p.K9N	IKBIP_ENST00000420861.1_5'UTR|IKBIP_ENST00000393042.3_Missense_Mutation_p.K9N|IKBIP_ENST00000342502.2_Missense_Mutation_p.K9N	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	9					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TGGGCCCCGACTTCTTCCGGC	0.706000													12	34					1.05317e-09	1.1359e-09	0.002450	1	0
KDM6A	7403	broad.mit.edu	37	X	44969392	44969392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:44969392C>A	ENST00000377967.4	+	28	4115	c.4074C>A	c.(4072-4074)tgC>tgA	p.C1358*	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.C1279*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.C1365*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.C1313*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1358					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGTACATTGCCAAGATTGTG	0.368000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								14	34					7.93312e-07	8.32978e-07	0.002450	1	0
NEK8	284086	broad.mit.edu	37	17	27065214	27065214	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:27065214G>A	ENST00000268766.6	+	8	1207	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	391						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V402V(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGTCGGGTGTGACCATCAAGC	0.642000													19	33					0	0	0.010504	0	0
MCM4	4173	broad.mit.edu	37	8	48875509	48875509	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:48875509A>G	ENST00000262105.2	+	6	811	c.602A>G	c.(601-603)aAt>aGt	p.N201S	MCM4_ENST00000523944.1_Missense_Mutation_p.N201S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	201					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			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)				TTCTAGATTAATGTTATTGGT	0.284000													34	33					0	0	0.010818	0	0
MYBL2	4605	broad.mit.edu	37	20	42320810	42320810	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:42320810G>C	ENST00000217026.4	+	6	641	c.514G>C	c.(514-516)Gtg>Ctg	p.V172L	MYBL2_ENST00000396863.4_Missense_Mutation_p.V148L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	172	HTH myb-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGACAATGCTGTGAAGAATCA	0.557000													37	52					0	0	0.008740	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357082	89357082	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89357082G>A	ENST00000301030.4	-	6	1012	c.552C>T	c.(550-552)atC>atT	p.I184I	ANKRD11_ENST00000378330.2_Silent_p.I184I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	184						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGAGCTCTTTGATGCGCCGGG	0.622000													40	59					0	0	0.014410	0	0
FLNB	2317	broad.mit.edu	37	3	58111396	58111396	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:58111396T>C	ENST00000357272.4	+	23	4152	c.3987T>C	c.(3985-3987)tcT>tcC	p.S1329S	FLNB_ENST00000348383.5_Silent_p.S1329S|FLNB_ENST00000358537.3_Silent_p.S1329S|FLNB_ENST00000295956.4_Silent_p.S1329S|FLNB_ENST00000490882.1_Silent_p.S1329S|FLNB_ENST00000419752.2_Silent_p.S1160S|FLNB_ENST00000493452.1_Silent_p.S1160S|FLNB_ENST00000429972.2_Silent_p.S1329S			O75369	FLNB_HUMAN	filamin B, beta	1329	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCAGCCATCTAGGGTGCAAG	0.522000													54	44					0	0	0.014410	0	0
SMOC2	64094	broad.mit.edu	37	6	169051454	169051454	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:169051454C>T	ENST00000354536.5	+	10	1254	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	SMOC2_ENST00000356284.2_Missense_Mutation_p.S334L	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	334					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCCTCCTCCTCGTCAGGCAGG	0.557000													8	2					0	0	0.003080	0	0
NIF3L1	60491	broad.mit.edu	37	2	201761879	201761879	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:201761879A>G	ENST00000409020.1	+	5	1101	c.807A>G	c.(805-807)atA>atG	p.I269M	NIF3L1_ENST00000409588.1_Intron|NIF3L1_ENST00000409357.1_Missense_Mutation_p.I269M|NIF3L1_ENST00000416651.1_Missense_Mutation_p.I269M|NIF3L1_ENST00000359683.4_Missense_Mutation_p.I242M			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	269					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTGATCGAATAAAAAGACACC	0.428000													33	45					0	0	0.004289	0	0
MTL5	9633	broad.mit.edu	37	11	68517984	68517984	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:68517984A>T	ENST00000443940.2	-	2	231	c.145T>A	c.(145-147)Ttc>Atc	p.F49I	MTL5_ENST00000255087.5_Missense_Mutation_p.F49I|MTL5_ENST00000544963.1_Missense_Mutation_p.F49I			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	49					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCTTCTTTGAAGACGTGGAAC	0.647000													5	15					0	0	0.000602	0	0
RBCK1	10616	broad.mit.edu	37	20	389408	389408	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:389408G>A	ENST00000356286.5	+	1	712	c.7G>A	c.(7-9)Gag>Aag	p.E3K	RBCK1_ENST00000353660.3_Missense_Mutation_p.R9Q|RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000400247.3_Missense_Mutation_p.R9Q|RBCK1_ENST00000475269.1_Missense_Mutation_p.E3K	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	3	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAGATGGACGAGAAGACCAA	0.682000													11	8					0	0	0.013537	0	0
LMX1A	4009	broad.mit.edu	37	1	165173230	165173230	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:165173230T>A	ENST00000342310.3	-	9	1418	c.1036A>T	c.(1036-1038)Agt>Tgt	p.S346C	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.S346C|LMX1A_ENST00000367893.4_Missense_Mutation_p.S346C	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	346						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCAGGTTACTGAGGGAGGTG	0.507000													8	86					0	0	0.003080	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55046832	55046832	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:55046832C>T	ENST00000335056.3	+	4	415	c.377C>T	c.(376-378)gCg>gTg	p.A126V	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TCCATCTCAGCGCACCCAAGC	0.547000													25	41					0	0	0.005443	0	0
TRIP12	9320	broad.mit.edu	37	2	230650558	230650558	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:230650558C>T	ENST00000283943.5	-	33	4962	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	TRIP12_ENST00000389045.3_Missense_Mutation_p.R1325Q|TRIP12_ENST00000389044.4_Missense_Mutation_p.R1643Q	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1595					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)		CAGCTCCTCTCGGTTCACAGT	0.453000													20	27					0	0	0.008871	0	0
NIN	51199	broad.mit.edu	37	14	51224125	51224125	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:51224125A>T	ENST00000245441.5	-	18	3813	c.3623T>A	c.(3622-3624)aTg>aAg	p.M1208K	NIN_ENST00000382041.3_Missense_Mutation_p.M1208K|NIN_ENST00000453196.1_Missense_Mutation_p.M1208K|NIN_ENST00000324330.9_Missense_Mutation_p.M1208K|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.M1208K|NIN_ENST00000389868.3_Intron	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1208					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACATAACATCATTAGCTGTTC	0.418000			T	PDGFRB	MPD								51	80					0	0	0.014410	0	0
SYN2	6854	broad.mit.edu	37	3	12211351	12211351	+	RNA	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:12211351T>C	ENST00000432424.2	+	0	1425							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AACCAGCTGCTGTCCAGGACT	0.542000													4	15					0	0	0.009096	0	0
SLC17A9	63910	broad.mit.edu	37	20	61597892	61597892	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:61597892C>T	ENST00000370349.3	+	12	1263	c.1059C>T	c.(1057-1059)aaC>aaT	p.N353N	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.N359N			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	359					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTTCTGTTAACATCCAGGACT	0.637000													16	166					0	0	0.004007	0	0
MFN1	55669	broad.mit.edu	37	3	179085314	179085314	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:179085314T>G	ENST00000471841.1	+	8	967	c.841T>G	c.(841-843)Ttc>Gtc	p.F281V	MFN1_ENST00000263969.5_Missense_Mutation_p.F281V|MFN1_ENST00000280653.7_Missense_Mutation_p.F281V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	281					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAATCGTATCTTCTTTGTTTC	0.403000													30	18					0	0	0.008361	0	0
PSMD11	5717	broad.mit.edu	37	17	30800897	30800897	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:30800897C>G	ENST00000261712.3	+	7	985	c.722C>G	c.(721-723)tCc>tGc	p.S241C	PSMD11_ENST00000457654.2_Missense_Mutation_p.S241C	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	241	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GGTTATGACTCCATCGACAGC	0.453000													4	73					0	0	0.009096	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88885403	88885403	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:88885403T>C	ENST00000303236.3	-	9	1907	c.1606A>G	c.(1606-1608)Aca>Gca	p.T536A	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.T385A	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	536					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATAAACGTTGTTGCTATGATA	0.413000													14	16					0	0	0.004990	0	0
PROL1	58503	broad.mit.edu	37	4	71275374	71275374	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:71275374G>C	ENST00000399575.2	+	3	503	c.329G>C	c.(328-330)aGa>aCa	p.R110T	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	110	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTCCCACTAAGACCTTACTAT	0.403000													26	120					0	0	0.010818	0	0
FGL1	2267	broad.mit.edu	37	8	17739539	17739539	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:17739539G>A	ENST00000398056.2	-	5	1028	c.213C>T	c.(211-213)gtC>gtT	p.V71V	FGL1_ENST00000518650.1_Silent_p.V71V|FGL1_ENST00000381840.2_Silent_p.V71V|FGL1_ENST00000427924.1_Silent_p.V71V|FGL1_ENST00000381841.2_Silent_p.V71V|FGL1_ENST00000398054.1_Silent_p.V71V|FGL1_ENST00000522444.1_Silent_p.V71V			Q08830	FGL1_HUMAN	fibrinogen-like 1	71					signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAAGATCAATGACAGTATTCT	0.438000													45	52					0	0	0.013114	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:126707544T>G	ENST00000251772.4	+	1	108	c.39T>G	c.(37-39)ggT>ggG	p.G13G	PLXNA1_ENST00000393409.2_Silent_p.G36G			Q9UIW2	PLXA1_HUMAN	plexin A1	36					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													8	30					0	0	0.005443	0	0
GON4L	54856	broad.mit.edu	37	1	155736062	155736062	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155736062A>G	ENST00000437809.1	-	21	3324	c.3202T>C	c.(3202-3204)Tct>Cct	p.S1068P	GON4L_ENST00000368331.1_Missense_Mutation_p.S1068P|GON4L_ENST00000361040.5_Missense_Mutation_p.S1068P|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.S1068P	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1068					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTGCAGGAGACTCAAAACTC	0.567000													52	13					0	0	0.014410	0	0
LRRC41	10489	broad.mit.edu	37	1	46744864	46744864	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:46744864G>C	ENST00000343304.6	-	9	2494	c.2209C>G	c.(2209-2211)Ctg>Gtg	p.L737V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	737										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGATGTCCAGCTGACAGAGA	0.532000													24	17					0	0	0.007291	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631022	122631022	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:122631022G>A	ENST00000195173.4	-	19	3193	c.2890C>T	c.(2890-2892)Cca>Tca	p.P964S	SEMA5B_ENST00000357599.3_Missense_Mutation_p.P965S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.P1019S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	965	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCATACCTGGGCAGGCCTGT	0.642000													11	13					0	0	0.010729	0	0
MUSK	4593	broad.mit.edu	37	9	113496648	113496648	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr9:113496648G>A	ENST00000416899.2	+	6	872	c.746G>A	c.(745-747)gGa>gAa	p.G249E	MUSK_ENST00000189978.5_Missense_Mutation_p.G249E|MUSK_ENST00000374448.4_Missense_Mutation_p.G249E			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	249	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATTGAAAACGGAAATGCTGTG	0.507000													20	4					0	0	0.010504	0	0
HLA-B	3106	broad.mit.edu	37	6	31324023	31324023	+	Silent	SNP	C	C	T	rs9266141	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:31324023C>T	ENST00000412585.2	-	3	568	c.540G>A	c.(538-540)cgG>cgA	p.R180R		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGTAGGCTCTCCGCTGCTCCG	0.692000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				8	9					0	0	0.006214	0	0
CHAT	1103	broad.mit.edu	37	10	50872873	50872873	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:50872873T>C	ENST00000395562.2	+	16	2251	c.1782T>C	c.(1780-1782)aaT>aaC	p.N594N	CHAT_ENST00000395559.2_Silent_p.N558N|CHAT_ENST00000351556.3_Silent_p.N558N|CHAT_ENST00000337653.2_Silent_p.N676N|CHAT_ENST00000339797.1_Silent_p.N558N|CHAT_ENST00000455728.2_Intron	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	676					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TGGTCCCAAATGGGTATGGTG	0.537000													48	137					0	0	0.014410	0	0
WISP2	8839	broad.mit.edu	37	20	43355781	43355781	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:43355781G>A	ENST00000372868.2	+	5	929	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Silent_p.Q113Q|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.E196K|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	196	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCTGCCCAGAATGGAGCAC	0.647000													45	78					0	0	0.014410	0	0
SEMA4C	54910	broad.mit.edu	37	2	97533612	97533612	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:97533612G>A	ENST00000305476.5	-	2	144	c.12C>T	c.(10-12)caC>caT	p.H4H		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	4					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGACAGCCCAGTGTGGGGCCA	0.617000													61	96					0	0	0.014410	0	0
CEP55	55165	broad.mit.edu	37	10	95287764	95287764	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:95287764G>A	ENST00000371485.3	+	9	1553	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	417	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AGGAGAGACTGAAAACAGAGA	0.418000													12	26					0	0	0.001855	0	0
B3GNTL1	146712	broad.mit.edu	37	17	81006550	81006550	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:81006550T>C	ENST00000320865.3	-	2	185	c.172A>G	c.(172-174)Agt>Ggt	p.S58G	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	58							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CAAACCTTACTGGCATCATTG	0.507000													49	49					0	0	0.014410	0	0
CACNA1I	8911	broad.mit.edu	37	22	40059831	40059831	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:40059831C>G	ENST00000336649.4	+	22	3600	c.3600C>G	c.(3598-3600)atC>atG	p.I1200M	CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1194M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1159M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1159M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1159M|CACNA1I_ENST00000402142.3_Missense_Mutation_p.I1194M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1194					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCCTCAGATCGAGGCCGGCA	0.622000													30	101					0	0	0.003271	0	0
A2ML1	144568	broad.mit.edu	37	12	8988145	8988145	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:8988145C>T	ENST00000299698.7	+	6	706	c.526C>T	c.(526-528)Cct>Tct	p.P176S		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	20						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGAAGTGGTACCTGAGCAAGG	0.527000													17	53					0	0	0.006122	0	0
ZRSR2	8233	broad.mit.edu	37	X	15821884	15821884	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:15821884G>A	ENST00000307771.7	+	4	301	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	93					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GAAGGAAAAGGAAGAGGCGGC	0.378000			"""F, S, Mis"""		"""MDS, CLL"""								4	13					0	0	0.009096	0	0
KCNA2	3737	broad.mit.edu	37	1	111147122	111147122	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:111147122C>A	ENST00000485317.1	-	3	956	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	KCNA2_ENST00000440270.1_Missense_Mutation_p.G95W|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.G95W|KCNA2_ENST00000369770.3_Missense_Mutation_p.G95W			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	95						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)		AATCGGCCCCCTGACTGGTAG	0.473000													12	48					0.000978159	0.00100926	0.010729	1	0
TTC21A	199223	broad.mit.edu	37	3	39180207	39180207	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:39180207C>T	ENST00000301819.6	+	29	4071	c.3894C>T	c.(3892-3894)ctC>ctT	p.L1298L	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Silent_p.L1249L|TTC21A_ENST00000431162.2_Silent_p.L1297L	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1297							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCCAGGTCCTCAGGGAGCACC	0.587000													45	25					0	0	0.014410	0	0
DBNDD1	79007	broad.mit.edu	37	16	90076440	90076440	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:90076440T>G	ENST00000304733.3	-	1	89	c.16A>C	c.(16-18)Aag>Cag	p.K6Q	DBNDD1_ENST00000392973.3_5'UTR|DBNDD1_ENST00000002501.6_Intron|DBNDD1_ENST00000568838.1_Intron	NM_024043.2	NP_076948.2	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	0						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		CAAATATTCTTCCAGGTTTCT	0.463000													36	58					0	0	0.005524	0	0
UTRN	7402	broad.mit.edu	37	6	144613024	144613024	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:144613024T>C	ENST00000367545.3	+	1	60	c.60T>C	c.(58-60)gaT>gaC	p.D20D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	20	Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATTCAGTGATATCATTAAGT	0.378000													19	11					0	0	0.010504	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64920912	64920912	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:64920912G>C	ENST00000399438.3	+	1	370	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TRAPPC13_ENST00000505553.1_Missense_Mutation_p.E9Q|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.E9Q|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.E9Q|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.E9Q|CTC-534A2.2_ENST00000510585.2_5'UTR	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13									p.E9Q(1)									CCCTAAACAGGAGCACCTGCT	0.512000													14	7					0	0	0.004990	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209959	140209959	+	Silent	SNP	G	G	A	rs150255684	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:140209959G>A	ENST00000529310.1	+	1	2397	c.2283G>A	c.(2281-2283)ggG>ggA	p.G761G	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														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)			TGTGCTCCGGGGAGGGCCCAC	0.607000													11	44					0	0	0.008291	0	0
SLC9A3	6550	broad.mit.edu	37	5	476428	476428	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:476428G>A	ENST00000264938.3	-	13	1965	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.I643I	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	652	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCTGTGGAAGATTTCCCGGT	0.607000													64	19					0	0	0.014410	0	0
GLMN	11146	broad.mit.edu	37	1	92757089	92757089	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:92757089G>A	ENST00000370360.3	-	4	252	c.171C>T	c.(169-171)atC>atT	p.I57I	GLMN_ENST00000534881.1_Silent_p.I57I	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	57					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TATTCTTGATGATGACCTGTA	0.373000									Multiple Glomus Tumors (of the Skin), Familial				9	25					0	0	0.010729	0	0
BAGE2	85319	broad.mit.edu	37	21	11097625	11097625	+	RNA	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:11097625G>C	ENST00000470054.1	-	0	244									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tggagcagctgggcagacaat	0.557000													5	78					0	0	0.001984	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23390927	23390927	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:23390927G>C	ENST00000258729.3	-	6	1036	c.680C>G	c.(679-681)tCt>tGt	p.S227C		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	227	KH 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TACTCACTTAGACTGGGTCTG	0.488000													17	60					0	0	0.006122	0	0
COL7A1	1294	broad.mit.edu	37	3	48630366	48630366	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:48630366C>T	ENST00000328333.8	-	6	795	c.688G>A	c.(688-690)Gac>Aac	p.D230N	COL7A1_ENST00000454817.1_Missense_Mutation_p.D230N	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	230	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGTCGAGTCATCCGCTGGG	0.587000													8	15					0	0	0.003080	0	0
MXRA5	25878	broad.mit.edu	37	X	3229321	3229321	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:3229321G>A	ENST00000217939.6	-	7	7077	c.6923C>T	c.(6922-6924)aCa>aTa	p.T2308I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2308	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAGTAGAGTGTCCCATTGTT	0.537000													60	82					0	0	0.014410	0	0
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:54754889T>C	ENST00000450632.1	-	13	1823	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597000													5	25					0	0	0.010729	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567437	45567437	+	RNA	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:45567437A>G	ENST00000256692.5	-	0	1248					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGGAGCAAACACTGTAGGG	0.393000													70	70					0	0	0.014410	0	0
UBR2	23304	broad.mit.edu	37	6	42625826	42625826	+	Silent	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:42625826T>G	ENST00000372899.1	+	27	3195	c.2937T>G	c.(2935-2937)gcT>gcG	p.A979A	UBR2_ENST00000372901.1_Silent_p.A979A|UBR2_ENST00000372883.3_Silent_p.A483A	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	979					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACAAAATGCTCCCTACCTAG	0.373000													56	73					0	0	0.014410	0	0
FAF1	11124	broad.mit.edu	37	1	50941244	50941244	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:50941244C>T	ENST00000396153.2	-	18	2212	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	FAF1_ENST00000371778.4_Silent_p.E587E|FAF1_ENST00000545823.1_Silent_p.E345E	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	587	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GGAAACGCCGCTCCAAGAACT	0.522000													4	26					0	0	0.009096	0	0
SIPA1	6494	broad.mit.edu	37	11	65417623	65417623	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:65417623G>C	ENST00000394224.3	+	14	3159	c.2863G>C	c.(2863-2865)Gag>Cag	p.E955Q	SIPA1_ENST00000394227.3_Missense_Mutation_p.E853Q|SIPA1_ENST00000534313.1_Missense_Mutation_p.E955Q|SIPA1_ENST00000527525.1_Missense_Mutation_p.E853Q	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	955					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCCCATCCCAGAGAGTGGAGA	0.607000													43	76					0	0	0.014410	0	0
CELSR3	1951	broad.mit.edu	37	3	48689917	48689917	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:48689917G>T	ENST00000544264.1	-	11	5984	c.5704C>A	c.(5704-5706)Ccc>Acc	p.P1902T	CELSR3_ENST00000164024.4_Missense_Mutation_p.P1902T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1902	Laminin G-like 2.				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)		GCACTGCCGGGGGGCAGGCCT	0.637000													11	40					6.42651e-13	7.08106e-13	0.010729	1	0
UBR4	23352	broad.mit.edu	37	1	19487579	19487579	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:19487579C>T	ENST00000375267.2	-	38	5241	c.5238G>A	c.(5236-5238)caG>caA	p.Q1746Q	UBR4_ENST00000375217.2_Silent_p.Q1746Q|UBR4_ENST00000375226.2_Silent_p.Q1746Q|UBR4_ENST00000375254.3_Silent_p.Q1746Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1746					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGTTCACTCTGAAATGCCG	0.517000													8	23					0	0	0.003080	0	0
A2M	2	broad.mit.edu	37	12	9232332	9232332	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:9232332G>C	ENST00000318602.7	-	24	3241	c.2934C>G	c.(2932-2934)gtC>gtG	p.V978V	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	978					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGCAAAGAGGACCATATTCT	0.453000													5	7					0	0	0.001984	0	0
CD300LG	146894	broad.mit.edu	37	17	41925958	41925958	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:41925958A>T	ENST00000317310.4	+	2	117	c.76A>T	c.(76-78)Agc>Tgc	p.S26C	CD300LG_ENST00000539718.1_Missense_Mutation_p.S26C|CD300LG_ENST00000377203.4_Missense_Mutation_p.S26C|CD300LG_ENST00000588884.1_Missense_Mutation_p.S26C|CD300LG_ENST00000293396.8_Missense_Mutation_p.S26C|CD300LG_ENST00000586233.1_Missense_Mutation_p.S26C	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	26	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGAGGAAATCAGCGGGTTCGA	0.562000													35	55					0	0	0.004289	0	0
SMAD3	4088	broad.mit.edu	37	15	67479786	67479786	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:67479786C>A	ENST00000327367.4	+	8	1403	c.1093C>A	c.(1093-1095)Cag>Aag	p.Q365K	SMAD3_ENST00000439724.3_Missense_Mutation_p.Q321K|SMAD3_ENST00000537194.2_Missense_Mutation_p.Q170K|SMAD3_ENST00000540846.2_Missense_Mutation_p.Q260K	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	365	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GGCTGTCTACCAGTTGACCCG	0.557000													59	34					6.60958e-23	7.5872e-23	0.014410	1	0
NUTM1	256646	broad.mit.edu	37	15	34648800	34648800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:34648800G>A	ENST00000537011.1	+	8	2973	c.2591G>A	c.(2590-2592)tGg>tAg	p.W864*	NUTM1_ENST00000333756.4_Nonsense_Mutation_p.W836*|NUTM1_ENST00000438749.3_Nonsense_Mutation_p.W854*	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		AGTGATCTGTGGGCAGAAGGT	0.517000													14	36					0	0	0.004990	0	0
SLIT1	6585	broad.mit.edu	37	10	98794286	98794286	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:98794286T>G	ENST00000266058.4	-	23	2625	c.2380A>C	c.(2380-2382)Aac>Cac	p.N794H	SLIT1_ENST00000371070.4_Missense_Mutation_p.N794H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	794					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGATCTTGTTGTTGCTCAGG	0.562000													29	37					0	0	0.008361	0	0
LONP1	9361	broad.mit.edu	37	19	5696709	5696709	+	Missense_Mutation	SNP	G	G	A	rs140317309		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:5696709G>A	ENST00000360614.3	-	11	1902	c.1745C>T	c.(1744-1746)aCg>aTg	p.T582M	LONP1_ENST00000585374.1_Missense_Mutation_p.T468M|LONP1_ENST00000540670.2_Missense_Mutation_p.T386M|LONP1_ENST00000593119.1_Missense_Mutation_p.T518M|LONP1_ENST00000590729.1_Missense_Mutation_p.T452M	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	582					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGTTCTCCGTCTTGGTCTT	0.632000													28	10					0	0	0.008361	0	0
GAR1	54433	broad.mit.edu	37	4	110740212	110740212	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:110740212A>T	ENST00000226796.6	+	4	689	c.425A>T	c.(424-426)cAg>cTg	p.Q142L	GAR1_ENST00000394631.3_Missense_Mutation_p.Q142L	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	142					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AAAAAACTACAGAAGGTGAGT	0.343000													30	40					0	0	0.013726	0	0
POU3F1	5453	broad.mit.edu	37	1	38511353	38511353	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:38511353C>T	ENST00000373012.2	-	1	1097	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	355					positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAGTGGCTCTCGAGCGCGCCT	0.662000													6	10					0	0	0.001168	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75545836	75545836	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:75545836G>A	ENST00000604729.1	+	1	497	c.200G>A	c.(199-201)aGa>aAa	p.R67K	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R67K|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R67K|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R67K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R67K					zinc finger, SWIM-type containing 8																		GGCGGTACCAGAATGCGAGGT	0.692000													3	10					0	0	0.004672	0	0
QARS	5859	broad.mit.edu	37	3	49141772	49141772	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:49141772C>T	ENST00000306125.6	-	2	587	c.250G>A	c.(250-252)Gag>Aag	p.E84K	QARS_ENST00000414533.1_Intron|QARS_ENST00000420147.2_Missense_Mutation_p.E102K			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	84					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCTGGGGCTCAGTGTGGATC	0.562000													56	42					0	0	0.014410	0	0
AP4E1	23431	broad.mit.edu	37	15	51289630	51289630	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:51289630T>A	ENST00000261842.5	+	18	2560	c.2454T>A	c.(2452-2454)ttT>ttA	p.F818L	AP4E1_ENST00000560508.1_Missense_Mutation_p.F743L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	818					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GTTCTTCCTTTAGTTCTTTGT	0.353000													4	13					0	0	0.000602	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486374	37486374	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:37486374C>A	ENST00000374660.1	+	35	2970	c.2871C>A	c.(2869-2871)gcC>gcA	p.A957A	ANKRD30A_ENST00000361713.1_Silent_p.A838A|ANKRD30A_ENST00000602533.1_Silent_p.A838A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1006						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAATAAAGCCTTGGAATTGA	0.318000													28	34					6.97489e-18	7.855e-18	0.004878	1	0
POMGNT1	55624	broad.mit.edu	37	1	46655654	46655654	+	Missense_Mutation	SNP	C	C	T	rs150351855		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:46655654C>T	ENST00000371992.1	-	20	2307	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.E553K|POMGNT1_ENST00000371984.3_Missense_Mutation_p.E553K|POMGNT1_ENST00000535522.1_Missense_Mutation_p.E531K	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	553					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TCCAGAACCTCAGCCTCACTG	0.522000													3	16					0	0	0.009096	0	0
FOXA1	3169	broad.mit.edu	37	14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:38061313C>T	ENST00000250448.2	-	2	737	c.676G>A	c.(676-678)Gac>Aac	p.D226N	FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.D226N(2)|p.D226Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGAAGCAGTCATTGAAGGAC	0.607000													35	30					0	0	0.008740	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291024	141291024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:141291024C>T	ENST00000247452.3	-	3	1097	c.750G>A	c.(748-750)tgG>tgA	p.W250*		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	250	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCACTTCCCAGATGACCT	0.517000										HNSCC(46;0.14)			60	128					0	0	0.014410	0	0
SCN4A	6329	broad.mit.edu	37	17	62018842	62018842	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:62018842G>T	ENST00000435607.1	-	24	4876	c.4800C>A	c.(4798-4800)aaC>aaA	p.N1600K	SCN4A_ENST00000578147.1_Missense_Mutation_p.N1600K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1600					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCACATTGAAGTTCTCCAGGA	0.532000													33	55					1.57351e-24	1.81208e-24	0.003755	1	0
ISY1	57461	broad.mit.edu	37	3	128852989	128852989	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:128852989C>T	ENST00000393292.3	-	9	656	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	ISY1_ENST00000393295.3_Silent_p.L197L|ISY1-RAB43_ENST00000418265.1_Silent_p.L197L|ISY1_ENST00000273541.8_Silent_p.L219L|ISY1_ENST00000471497.1_Intron					ISY1 splicing factor homolog (S. cerevisiae)											endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CTCCTCTTGCCAGCCGAGCCT	0.507000													11	88					0	0	0.001855	0	0
NLRP9	338321	broad.mit.edu	37	19	56243884	56243884	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:56243884C>G	ENST00000332836.2	-	2	1340	c.1313G>C	c.(1312-1314)gGg>gCg	p.G438A		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	438	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAACAGTCCCCTCTCCTTTG	0.483000													73	87					0	0	0.014410	0	0
GNAI1	2770	broad.mit.edu	37	7	79846687	79846687	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:79846687G>A	ENST00000351004.3	+	8	1316	c.943G>A	c.(943-945)Gac>Aac	p.D315N	GNAI1_ENST00000457358.2_Missense_Mutation_p.D263N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	315					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TAAAAGAAAGGACACAAAGGA	0.348000													12	24					0	0	0.013537	0	0
KAT6A	7994	broad.mit.edu	37	8	41792359	41792359	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:41792359G>C	ENST00000396930.3	-	18	3922	c.3379C>G	c.(3379-3381)Ctt>Gtt	p.L1127V	KAT6A_ENST00000406337.1_Missense_Mutation_p.L1127V|KAT6A_ENST00000265713.2_Missense_Mutation_p.L1127V	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1127					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TTTCGCAAAAGAGATACTGGC	0.413000													51	245					0	0	0.014410	0	0
C14orf37	145407	broad.mit.edu	37	14	58605935	58605935	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:58605935C>A	ENST00000267485.7	-	2	336	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	48						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TTCATCTTATCGGACTGCCCT	0.478000													62	106					1.42676e-28	1.65913e-28	0.014410	1	0
C18orf8	29919	broad.mit.edu	37	18	21110004	21110004	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:21110004G>A	ENST00000269221.3	+	17	1617	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	C18orf8_ENST00000590868.1_Missense_Mutation_p.E455K|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	503	Mic1.									endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTACCTACATGAACTTGTTAT	0.433000													193	158					0	0	0.014410	0	0
MYH3	4621	broad.mit.edu	37	17	10542927	10542927	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:10542927C>T	ENST00000583535.1	-	23	2962	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K	MYH3_ENST00000226209.7_Missense_Mutation_p.E959K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	959					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGGGTCAACTCAAGGTCATCA	0.453000													127	56					0	0	0.014410	0	0
LHX4	89884	broad.mit.edu	37	1	180217472	180217472	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:180217472G>A	ENST00000263726.2	+	2	373	c.129G>A	c.(127-129)ctG>ctA	p.L43L		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	43	LIM zinc-binding 1.					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						AGTTCATCCTGAAGGTCCTGG	0.592000													8	49					0	0	0.003080	0	0
PARP12	64761	broad.mit.edu	37	7	139724424	139724424	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:139724424G>T	ENST00000263549.3	-	12	2915	c.2042C>A	c.(2041-2043)tCc>tAc	p.S681Y		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	681	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CGAGGGCTTGGAGGAGGTGGT	0.562000													14	50					7.93312e-07	8.32978e-07	0.002450	1	0
MTM1	4534	broad.mit.edu	37	X	149809841	149809841	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:149809841G>T	ENST00000370396.2	+	8	682	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	MTM1_ENST00000413012.2_Missense_Mutation_p.D173Y|MTM1_ENST00000543350.1_Missense_Mutation_p.D95Y|MTM1_ENST00000542741.1_Missense_Mutation_p.D115Y|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	210	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTGCCTCAGATGATGACCT	0.438000													10	54					3.86212e-05	4.00807e-05	0.008291	1	0
KPNB1	3837	broad.mit.edu	37	17	45750925	45750925	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:45750925C>A	ENST00000290158.4	+	14	2172	c.1765C>A	c.(1765-1767)Cag>Aag	p.Q589K	KPNB1_ENST00000535458.2_Missense_Mutation_p.Q444K|KPNB1_ENST00000537679.1_Missense_Mutation_p.Q373K|KPNB1_ENST00000540627.1_Missense_Mutation_p.Q444K	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	589					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TGCAACTCTTCAGGTATGGTG	0.373000													28	24					3.73148e-12	4.08631e-12	0.007291	1	0
UTP20	27340	broad.mit.edu	37	12	101760349	101760349	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:101760349C>T	ENST00000261637.4	+	47	6313	c.6139C>T	c.(6139-6141)Cca>Tca	p.P2047S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2047					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCCAGTAGCCCCAGCACCAGA	0.512000													45	39					0	0	0.014410	0	0
DCST1	149095	broad.mit.edu	37	1	155023327	155023327	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:155023327A>G	ENST00000295542.1	+	17	2200	c.2104A>G	c.(2104-2106)Act>Gct	p.T702A	DCST1_ENST00000423025.2_Missense_Mutation_p.T677A	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	702						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACGACGACACTGCCTACGC	0.637000											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	12					0	0	0.002780	0	0
MST1L	11223	broad.mit.edu	37	1	17085171	17085171	+	RNA	SNP	T	T	C	rs142276525	by1000genomes	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:17085171T>C	ENST00000455405.2	-	0	105																											ACTCGTAACCTGGGGGGGTCC	0.577000													5	33					0	0	0.001168	0	0
FGF12	2257	broad.mit.edu	37	3	191888334	191888334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:191888334C>A	ENST00000445105.2	-	5	585	c.340G>T	c.(340-342)Gga>Tga	p.G114*	FGF12_ENST00000264730.3_Nonsense_Mutation_p.G114*|FGF12_ENST00000454309.2_Nonsense_Mutation_p.G176*|FGF12_ENST00000450716.1_Nonsense_Mutation_p.G114*|FGF12_ENST00000430714.1_Nonsense_Mutation_p.G77*	NM_004113.5	NP_004104.3	P61328	FGF12_HUMAN	fibroblast growth factor 12						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTATTGAGTCCCAGAAACCAA	0.413000													31	137					1.45844e-13	1.622e-13	0.013726	1	0
OGT	8473	broad.mit.edu	37	X	70784453	70784453	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:70784453C>A	ENST00000373719.3	+	19	2656	c.2439C>A	c.(2437-2439)atC>atA	p.I813I	OGT_ENST00000373701.3_Silent_p.I803I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	813					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGTTCTAGATCAACAATAAGG	0.383000													17	22					3.32936e-07	3.52695e-07	0.006122	1	0
ESPL1	9700	broad.mit.edu	37	12	53670542	53670542	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:53670542G>A	ENST00000257934.4	+	8	1930	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	ESPL1_ENST00000552462.1_Silent_p.L613L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	613					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCTGGAGCTGAGCCCCGAGG	0.642000													15	52					0	0	0.003163	0	0
CLVS2	134829	broad.mit.edu	37	6	123319132	123319132	+	Silent	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:123319132C>G	ENST00000275162.5	+	2	1545	c.210C>G	c.(208-210)cgC>cgG	p.R70R	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGGCCTTCCGCCTCCTGGCGC	0.547000													28	51					0	0	0.013726	0	0
GPR19	2842	broad.mit.edu	37	12	12814505	12814505	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:12814505T>C	ENST00000540510.1	-	2	1070	c.878A>G	c.(877-879)cAt>cGt	p.H293R	GPR19_ENST00000332427.2_Missense_Mutation_p.H293R			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	293						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		CTGAGCTACATGAAAAGGCAG	0.408000													9	23					0	0	0.004482	0	0
HCN1	348980	broad.mit.edu	37	5	45645317	45645317	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:45645317C>A	ENST00000303230.4	-	2	876	c.819G>T	c.(817-819)agG>agT	p.R273S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	273						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCTAATTAACCTTGAAAGTC	0.328000													6	2					0.00116845	0.00119866	0.001168	1	0
RBFA	79863	broad.mit.edu	37	18	77802217	77802217	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:77802217G>A	ENST00000306735.5	+	5	712	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_Intron|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	192					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGCTCTAGCTGAGGTAAGGTT	0.388000													11	24					0	0	0.010729	0	0
ABLIM1	3983	broad.mit.edu	37	10	116247730	116247730	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:116247730T>A	ENST00000533213.2	-	8	1149	c.848A>T	c.(847-849)gAg>gTg	p.E283V	ABLIM1_ENST00000277895.5_Missense_Mutation_p.E343V|ABLIM1_ENST00000392952.3_Missense_Mutation_p.E27V|ABLIM1_ENST00000369253.2_Missense_Mutation_p.E27V|ABLIM1_ENST00000369266.3_Missense_Mutation_p.E27V|ABLIM1_ENST00000369252.4_Missense_Mutation_p.E283V			O14639	ABLM1_HUMAN	actin binding LIM protein 1	343	LIM zinc-binding 3.|LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CAGCTTTTCCTCGGTCTTCGT	0.478000													23	60					0	0	0.003330	0	0
CSH2	1443	broad.mit.edu	37	17	61950572	61950572	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:61950572C>T	ENST00000336844.5	-	2	289	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000345366.7_Silent_p.A46A|CSH2_ENST00000392886.2_Silent_p.A46A	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	46					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CCAGCTGGTGCGCGCGATGGG	0.592000													21	112					0	0	0.006999	0	0
ZNF320	162967	broad.mit.edu	37	19	53384401	53384401	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:53384401C>T	ENST00000595635.1	-	8	1479	c.978G>A	c.(976-978)gaG>gaA	p.E326E	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Silent_p.E326E|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTAAGGTTTCTCTCCAGTGT	0.403000													23	43					0	0	0.012319	0	0
ERCC2	2068	broad.mit.edu	37	19	45855787	45855787	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:45855787C>T	ENST00000391945.4	-	21	2100	c.2023G>A	c.(2023-2025)Ggc>Agc	p.G675S	ERCC2_ENST00000391944.3_Missense_Mutation_p.G597S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	675			G -> R (in XP-D/CS; severe form).		cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACCATGAGGCCGTAGTCCGTC	0.597000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				38	44					0	0	0.004878	0	0
IKBKB	3551	broad.mit.edu	37	8	42174385	42174385	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:42174385C>G	ENST00000520810.1	+	11	1274	c.1088C>G	c.(1087-1089)cCc>cGc	p.P363R	IKBKB_ENST00000520835.1_Missense_Mutation_p.P361R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.P304R|IKBKB_ENST00000379708.3_Missense_Mutation_p.P140R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	363					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	p.P363R(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GCGTTGATCCCCGATAAGCCT	0.577000													8	38					0	0	0.004482	0	0
CDKL5	6792	broad.mit.edu	37	X	18643279	18643279	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:18643279C>A	ENST00000379989.3	+	18	2693	c.2408C>A	c.(2407-2409)aCg>aAg	p.T803K	CDKL5_ENST00000379996.3_Missense_Mutation_p.T803K	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	803					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GATCTTCTGACGTTGCAGAAA	0.483000													62	84					6.25564e-26	7.22739e-26	0.014410	1	0
GLI1	2735	broad.mit.edu	37	12	57865459	57865459	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:57865459A>G	ENST00000228682.2	+	12	3027	c.2936A>G	c.(2935-2937)aAt>aGt	p.N979S	GLI1_ENST00000546141.1_Missense_Mutation_p.N938S|GLI1_ENST00000543426.1_Missense_Mutation_p.N851S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	979					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGGGGGCAAATAGGGCTTCA	0.537000													27	86					0	0	0.004656	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275730	130275730	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:130275730A>T	ENST00000257359.6	-	9	3099	c.2393T>A	c.(2392-2394)tTc>tAc	p.F798Y		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	798	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TTTTGGGGGGAAGACCTCGCC	0.567000													110	34					0	0	0.014410	0	0
C14orf37	145407	broad.mit.edu	37	14	58605192	58605192	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:58605192T>G	ENST00000267485.7	-	2	1079	c.885A>C	c.(883-885)gaA>gaC	p.E295D	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	295						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCACTGTGACTTCTGGGGCTC	0.532000													44	69					0	0	0.008740	0	0
ITSN1	6453	broad.mit.edu	37	21	35147174	35147174	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:35147174G>C	ENST00000381318.3	+	13	1735	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	ITSN1_ENST00000399352.1_Missense_Mutation_p.E483Q|ITSN1_ENST00000399353.1_Missense_Mutation_p.E446Q|ITSN1_ENST00000399338.4_Missense_Mutation_p.E483Q|ITSN1_ENST00000399349.1_Missense_Mutation_p.E483Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.E483Q|ITSN1_ENST00000379960.5_Missense_Mutation_p.E483Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E483Q|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E483Q|ITSN1_ENST00000381291.4_Missense_Mutation_p.E483Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.E483Q|ITSN1_ENST00000399326.3_Missense_Mutation_p.E483Q	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	483	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATTTGAATTAGAAGCTCTAGT	0.299000													10	40					0	0	0.001855	0	0
CUL7	9820	broad.mit.edu	37	6	43008026	43008026	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:43008026C>T	ENST00000535468.1	-	22	4500	c.4414G>A	c.(4414-4416)Gaa>Aaa	p.E1472K	CUL7_ENST00000265348.3_Missense_Mutation_p.E1388K	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1388					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGACACTTCTGGCATTGCC	0.592000													32	42					0	0	0.008361	0	0
KDR	3791	broad.mit.edu	37	4	55970921	55970921	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:55970921T>C	ENST00000263923.4	-	13	2171	c.1876A>G	c.(1876-1878)Atc>Gtc	p.I626V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	626	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTCCATGATCAAAATGTCA	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			3	25					0	0	0.004672	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82362031	82362031	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:82362031C>T	ENST00000509081.1	-	10	1279	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.G312E|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.G354E			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	354	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTGTGCTGCCCCACGAAGAGC	0.338000													43	56					0	0	0.014410	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687920	151687920	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:151687920C>T	ENST00000325144.4	-	3	421	c.281G>A	c.(280-282)cGa>cAa	p.R94Q		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTGTTCTAATCGAACCGGGTC	0.537000													59	18					0	0	0.014410	0	0
RAX2	84839	broad.mit.edu	37	19	3771575	3771575	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:3771575T>G	ENST00000555633.1	-	2	506	c.166A>C	c.(166-168)Agc>Cgc	p.S56R	RAX2_ENST00000555978.1_Missense_Mutation_p.S56R			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	56					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCACGGCTGTACACATCC	0.637000													12	0					0	0	0.010729	0	0
PSMD12	5718	broad.mit.edu	37	17	65353674	65353674	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:65353674G>A	ENST00000356126.3	-	2	236	c.129C>T	c.(127-129)gtC>gtT	p.V43V	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Intron	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GGGTTTCAATGACTTCTTGAA	0.333000													35	139					0	0	0.004289	0	0
SLC30A4	7782	broad.mit.edu	37	15	45814250	45814250	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:45814250C>T	ENST00000261867.4	-	2	617	c.303G>A	c.(301-303)caG>caA	p.Q101Q	HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	101					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GTATCTCTCTCTGTTTGCTGC	0.478000													36	87					0	0	0.005524	0	0
MXRA5	25878	broad.mit.edu	37	X	3239768	3239768	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:3239768T>A	ENST00000217939.6	-	5	4112	c.3958A>T	c.(3958-3960)Aca>Tca	p.T1320S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1320						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCATCTGATGTGGGTTTATAT	0.363000													26	131					0	0	0.004656	0	0
SETDB1	9869	broad.mit.edu	37	1	150923028	150923028	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:150923028C>T	ENST00000271640.5	+	13	1865	c.1675C>T	c.(1675-1677)Cca>Tca	p.P559S	SETDB1_ENST00000368969.4_Missense_Mutation_p.P559S|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGCGGGCCCCAGCAGAGCC	0.587000													29	179					0	0	0.006320	0	0
FER1L6	654463	broad.mit.edu	37	8	125015463	125015463	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:125015463G>A	ENST00000522917.1	+	13	1782	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	FER1L6_ENST00000399018.1_Missense_Mutation_p.E526K|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	526						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)			GAAGTCAGCTGAATCAGCTGA	0.522000													22	41					0	0	0.003330	0	0
DZIP3	9666	broad.mit.edu	37	3	108407451	108407451	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:108407451A>G	ENST00000361582.3	+	30	3512	c.3282A>G	c.(3280-3282)aaA>aaG	p.K1094K	DZIP3_ENST00000463306.1_Silent_p.K1094K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1094					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTCAAGGAAAATCAGTGTCAA	0.403000													19	24					0	0	0.006122	0	0
ZNF518A	9849	broad.mit.edu	37	10	97920088	97920088	+	RNA	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:97920088C>T	ENST00000534948.1	+	0	4866							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTCTAAACAGCTTGTGAAATG	0.378000													5	15					0	0	0.000602	0	0
TLR7	51284	broad.mit.edu	37	X	12905270	12905270	+	Missense_Mutation	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:12905270A>T	ENST00000380659.3	+	3	1782	c.1643A>T	c.(1642-1644)gAc>gTc	p.D548V		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	548					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGATATTTGGACTTCTCCAAC	0.388000													98	174					0	0	0.014410	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25893369	25893369	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:25893369C>T	ENST00000374338.4	+	9	932	c.813C>T	c.(811-813)gtC>gtT	p.V271V	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	271	AP-2 complex binding.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTCAGGTCCTGGACACTG	0.657000													5	10					0	0	0.000602	0	0
CHORDC1	26973	broad.mit.edu	37	11	89956187	89956187	+	Translation_Start_Site	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:89956187C>T	ENST00000320585.6	-	0	345				CHORDC1_ENST00000530765.1_De_novo_Start_OutOfFrame|CHORDC1_ENST00000457199.2_De_novo_Start_OutOfFrame	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1						chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GCGTTTGCCACTCCCGTGTCG	0.602000													7	12					0	0	0.003080	0	0
KDM3A	55818	broad.mit.edu	37	2	86669240	86669240	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:86669240G>A	ENST00000409556.1	+	3	435	c.70G>A	c.(70-72)Gac>Aac	p.D24N	KDM3A_ENST00000312912.5_Missense_Mutation_p.D24N|KDM3A_ENST00000409064.1_Missense_Mutation_p.D24N|KDM3A_ENST00000542128.1_Missense_Mutation_p.D24N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	24				D -> G (in Ref. 2; CAH18459/CAH18373).	androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTCCGCAGCCGACGGCAGCGA	0.642000													37	50					0	0	0.004289	0	0
AK9	221264	broad.mit.edu	37	6	109854548	109854548	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:109854548C>A	ENST00000424296.2	-	28	3552	c.3476G>T	c.(3475-3477)cGc>cTc	p.R1159L	AK9_ENST00000355283.1_Missense_Mutation_p.R238L|AK9_ENST00000341338.6_Missense_Mutation_p.R238L	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AGGAAGGAGGCGATCAAAAAT	0.383000													3	15					0.004672	0.00475186	0.004672	1	0
SPANXN2	494119	broad.mit.edu	37	X	142803727	142803727	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:142803727C>A	ENST00000370498.1	-	1	789	c.36G>T	c.(34-36)aaG>aaT	p.K12N		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	12										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTCTTCCTCTTCTCCCCAT	0.433000													58	205					2.165e-29	2.52583e-29	0.014410	1	0
PBRM1	55193	broad.mit.edu	37	3	52597459	52597459	+	Missense_Mutation	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:52597459A>G	ENST00000356770.4	-	23	3832	c.3830T>C	c.(3829-3831)aTc>aCc	p.I1277T	PBRM1_ENST00000337303.4_Missense_Mutation_p.I1309T|PBRM1_ENST00000296302.7_Missense_Mutation_p.I1309T|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Missense_Mutation_p.I1284T|PBRM1_ENST00000409114.3_Missense_Mutation_p.I1324T|PBRM1_ENST00000409057.1_Missense_Mutation_p.I1309T|PBRM1_ENST00000409767.1_Missense_Mutation_p.I1324T|PBRM1_ENST00000410007.1_Missense_Mutation_p.I1284T			Q86U86	PB1_HUMAN	polybromo 1	1309					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAGCAACTGGATCTTCTTTTC	0.403000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								16	60					0	0	0.006122	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346334	89346334	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89346334C>G	ENST00000301030.4	-	9	7076	c.6616G>C	c.(6616-6618)Gag>Cag	p.E2206Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E2206Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2206	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTGAGGGCTCAGGCTCGAGC	0.672000													8	18					0	0	0.004482	0	0
BRWD1	54014	broad.mit.edu	37	21	40636520	40636520	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:40636520G>T	ENST00000342449.3	-	17	1829	c.1751C>A	c.(1750-1752)cCt>cAt	p.P584H	BRWD1_ENST00000333229.2_Missense_Mutation_p.P584H|BRWD1_ENST00000380800.3_Missense_Mutation_p.P584H	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CATAAGATGAGGAGCCTGCTG	0.393000													17	17					4.7546e-09	5.09728e-09	0.004007	1	0
SIKE1	80143	broad.mit.edu	37	1	115318966	115318966	+	Splice_Site	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:115318966C>T	ENST00000369528.5	-	4	612		c.e4+1		SIKE1_ENST00000060969.5_Splice_Site	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1							cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TACAATCTTACCTCTAATTGG	0.373000													17	62					0	0	0.004990	0	0
KERA	11081	broad.mit.edu	37	12	91449916	91449916	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:91449916C>G	ENST00000266719.3	-	2	390	c.143G>C	c.(142-144)tGc>tCc	p.C48S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	48	Cys-rich.|LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ACTGGGTGGGCAGAAACATTC	0.393000													4	6					0	0	0.000602	0	0
LAS1L	81887	broad.mit.edu	37	X	64734785	64734785	+	Missense_Mutation	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:64734785T>A	ENST00000374811.3	-	13	2036	c.1996A>T	c.(1996-1998)Atg>Ttg	p.M666L	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.M649L|LAS1L_ENST00000374804.5_Missense_Mutation_p.M607L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	666						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TTCTCCAGCATGAGCTCTGCT	0.557000													13	22					0	0	0.013537	0	0
PKP3	11187	broad.mit.edu	37	11	404268	404268	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:404268C>T	ENST00000331563.2	+	12	2379	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	768					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGGCAGCATCCAGCCTCCTG	0.662000													27	55					0	0	0.008361	0	0
RANGAP1	5905	broad.mit.edu	37	22	41652232	41652232	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:41652232C>T	ENST00000455915.2	-	8	2420	c.951G>A	c.(949-951)atG>atA	p.M317I	RANGAP1_ENST00000407260.4_Missense_Mutation_p.M262I|RANGAP1_ENST00000405486.1_Missense_Mutation_p.M317I|RANGAP1_ENST00000356244.3_Missense_Mutation_p.M317I			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	317					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTGTCTGCCATGGCCTCAG	0.572000													44	57					0	0	0.014410	0	0
CD163	9332	broad.mit.edu	37	12	7655119	7655119	+	Missense_Mutation	SNP	T	T	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:7655119T>G	ENST00000359156.4	-	2	290	c.88A>C	c.(88-90)Act>Cct	p.T30P	CD163_ENST00000541972.1_Missense_Mutation_p.T18P|CD163_ENST00000432237.2_Missense_Mutation_p.T30P|CD163_ENST00000396620.3_Missense_Mutation_p.T30P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	30					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						aagaccacagtaatggtgaag	0.408000													2	5					0	0	0.004672	0	0
ATN1	1822	broad.mit.edu	37	12	7043167	7043167	+	Translation_Start_Site	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:7043167G>A	ENST00000356654.4	+	2	240	c.3G>A	c.(1-3)atG>atA	p.M1I	ATN1_ENST00000396684.2_Start_Codon_SNP_p.M1I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCTGAAGAATGAAGACACGAC	0.517000													6	12					0	0	0.001168	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998923	108998923	+	Silent	SNP	A	A	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:108998923A>T	ENST00000272452.2	+	3	704	c.378A>T	c.(376-378)ctA>ctT	p.L126L	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	126					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CATCCTTGCTAGAGAAAAACT	0.403000													102	140					0	0	0.014410	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374084	95374084	+	RNA	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:95374084A>G	ENST00000494840.1	-	0	1777					NR_077228.1																						ATCTATTGTGAACAGGTTTAG	0.393000													4	14					0	0	0.009096	0	0
RNF213	57674	broad.mit.edu	37	17	78320135	78320135	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:78320135C>G	ENST00000582970.1	+	29	8143	c.8000C>G	c.(7999-8001)tCc>tGc	p.S2667C	RNF213_ENST00000336301.6_Missense_Mutation_p.S740C|RNF213_ENST00000508628.2_Missense_Mutation_p.S2716C	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)			GCCTTTCTCTCCAAGTCCAGC	0.532000													20	59					0	0	0.007413	0	0
SLC25A12	8604	broad.mit.edu	37	2	172669944	172669944	+	Missense_Mutation	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:172669944C>A	ENST00000422440.2	-	11	1113	c.1076G>T	c.(1075-1077)gGc>gTc	p.G359V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.G252V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	359					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGAGCCAGAGCCACGCTGGTT	0.443000													43	66					3.10996e-30	3.64019e-30	0.014410	1	0
GDF5	8200	broad.mit.edu	37	20	34022485	34022485	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr20:34022485C>T	ENST00000374372.1	-	4	1231	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	GDF5_ENST00000374369.3_Missense_Mutation_p.R243Q|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R177C			P43026	GDF5_HUMAN	growth differentiation factor 5	243					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGGCTTCTTCCGCAAGATCCG	0.687000													31	107					0	0	0.008361	0	0
CSH2	1443	broad.mit.edu	37	17	61949641	61949641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:61949641G>A	ENST00000392886.2	-	5	650	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Nonsense_Mutation_p.Q110*|CSH2_ENST00000345366.7_Nonsense_Mutation_p.Q72*	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	167					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CTGTAGGTCTGCTTGAGGATC	0.557000													76	106					0	0	0.014410	0	0
PNCK	139728	broad.mit.edu	37	X	152937346	152937346	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:152937346G>A	ENST00000393831.2	-	5	837	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	PNCK_ENST00000340888.3_Missense_Mutation_p.R135W|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.R152W|PNCK_ENST00000370142.1_Missense_Mutation_p.R135W|PNCK_ENST00000370150.1_Missense_Mutation_p.R135W|PNCK_ENST00000447676.2_Missense_Mutation_p.R218W	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	135	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGTCCCGGTGCACGATC	0.662000													6	18					0	0	0.001168	0	0
MBD5	55777	broad.mit.edu	37	2	149225912	149225912	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:149225912G>C	ENST00000407073.1	+	9	1397	c.400G>C	c.(400-402)Gca>Cca	p.A134P	MBD5_ENST00000404807.1_Missense_Mutation_p.A134P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	134						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACATCAGATGCAACTCCAGT	0.423000													4	5					0	0	0.009096	0	0
USP31	57478	broad.mit.edu	37	16	23083506	23083506	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:23083506G>A	ENST00000219689.7	-	15	2347	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F	USP31_ENST00000567975.1_Missense_Mutation_p.S76F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	783	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACACAGGGAAGAACTTGTGGA	0.622000													20	27					0	0	0.007413	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197840	142197840	+	RNA	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:142197840G>A	ENST00000471935.1	-	0	137																											ATATCCGGGAGACTGGGCAAC	0.423000													11	18					0	0	0.010729	0	0
GNB1	2782	broad.mit.edu	37	1	1756890	1756890	+	Translation_Start_Site	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:1756890C>A	ENST00000378609.4	-	3	334	c.3G>T	c.(1-3)atG>atT	p.M1I	GNB1_ENST00000472614.2_5'UTR	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	1					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CAAGCTCACTCATCTTCCGAT	0.398000													129	128					2.4537e-52	2.89099e-52	0.014410	1	0
CORO1A	11151	broad.mit.edu	37	16	30199868	30199868	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:30199868G>A	ENST00000219150.5	+	10	1557	c.1252G>A	c.(1252-1254)Gca>Aca	p.A418T	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Missense_Mutation_p.A418T	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	418					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CAGGAGGGCAGCACCAGAGGC	0.657000													21	16					0	0	0.012319	0	0
TRIM58	25893	broad.mit.edu	37	1	248028105	248028105	+	Silent	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:248028105G>A	ENST00000366481.3	+	3	663	c.615G>A	c.(613-615)gaG>gaA	p.E205E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	205						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCGGCTGGAGGCGGAGGAGC	0.622000													42	8					0	0	0.010771	0	0
DNMT3L	29947	broad.mit.edu	37	21	45666349	45666349	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:45666349C>T	ENST00000270172.3	-	12	1578	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	DNMT3L_ENST00000418993.1_Silent_p.V364V	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	364					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGCAGTTCTTCACCAGCTTGG	0.473000													18	47					0	0	0.006122	0	0
COL6A3	1293	broad.mit.edu	37	2	238305412	238305412	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:238305412G>A	ENST00000295550.4	-	2	501	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	COL6A3_ENST00000472056.1_Missense_Mutation_p.L17F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L17F|COL6A3_ENST00000353578.4_Missense_Mutation_p.L17F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L17F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L17F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L17F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L17F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	17					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGCCTGAGAGAAAGAGGCAA	0.413000													9	56					0	0	0.008291	0	0
TSTA3	7264	broad.mit.edu	37	8	144696593	144696593	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:144696593G>T	ENST00000425753.2	-	6	598	c.495C>A	c.(493-495)ttC>ttA	p.F165L	TSTA3_ENST00000529064.1_Missense_Mutation_p.F165L	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	165					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	TGACAGCGGTGAAGGTGCAGC	0.662000													5	53					0.00116845	0.00119866	0.001168	1	0
APOBR	55911	broad.mit.edu	37	16	28509168	28509168	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:28509168G>C	ENST00000564831.1	+	2	2839	c.2806G>C	c.(2806-2808)Gag>Cag	p.E936Q	APOBR_ENST00000431282.1_Missense_Mutation_p.E927Q|APOBR_ENST00000328423.5_Missense_Mutation_p.E927Q	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	927	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAAGGAGACTGAGCCAGAAAG	0.662000													7	10					0	0	0.001984	0	0
ZNF778	197320	broad.mit.edu	37	16	89294114	89294114	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89294114G>C	ENST00000433976.2	+	6	1666	c.1334G>C	c.(1333-1335)gGa>gCa	p.G445A	ZNF778_ENST00000306502.6_Missense_Mutation_p.G403A|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACTCACACTGGAGAGAAACCA	0.493000													52	63					0	0	0.014410	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884981	24884981	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:24884981C>T	ENST00000382554.3	+	9	4344	c.4026C>T	c.(4024-4026)tcC>tcT	p.S1342S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1342					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						TCTCCCTTTCCTTCTCCTGCT	0.607000													96	122					0	0	0.014410	0	0
BAGE2	85319	broad.mit.edu	37	21	11039075	11039075	+	RNA	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr21:11039075T>A	ENST00000470054.1	-	0	1128									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTTCAGAATCTTCTTTCTG	0.393000													7	162					0	0	0.001984	0	0
EML2	24139	broad.mit.edu	37	19	46141892	46141892	+	Splice_Site	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:46141892T>A	ENST00000536630.1	-	6	629	c.491A>T	c.(490-492)gAg>gTg	p.E164V	EML2_ENST00000587152.1_Splice_Site_p.E218V|EML2_ENST00000589876.1_Splice_Site_p.E17V|EML2_ENST00000245925.3_Splice_Site_p.E17V	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	17					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGAGCCATCCTCTGCCAGGAC	0.557000													22	90					0	0	0.003330	0	0
TNPO3	23534	broad.mit.edu	37	7	128630225	128630225	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:128630225G>A	ENST00000393245.1	-	11	1763	c.1390C>T	c.(1390-1392)Cac>Tac	p.H464Y	TNPO3_ENST00000482320.1_Intron|TNPO3_ENST00000265388.5_Intron|TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000471166.1_Missense_Mutation_p.H464Y	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	453					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AACAGGCTGTGACGACACACA	0.378000													12	16					0	0	0.013537	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			12	15					0	0	0.010729	0	0
SLC22A23	63027	broad.mit.edu	37	6	3284172	3284172	+	Silent	SNP	C	C	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:3284172C>A	ENST00000436008.2	-	10	2103	c.1641G>T	c.(1639-1641)gcG>gcT	p.A547A	SLC22A23_ENST00000490273.1_Silent_p.A258A|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Silent_p.A539A|SLC22A23_ENST00000380302.4_Silent_p.A258A			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	539					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CGATGGAAAACGCGATGGAAA	0.587000													14	22					9.31168e-06	9.72009e-06	0.001855	1	0
WDR11	55717	broad.mit.edu	37	10	122624668	122624668	+	Missense_Mutation	SNP	G	G	C	rs145467317		TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:122624668G>C	ENST00000263461.6	+	6	1069	c.823G>C	c.(823-825)Gtg>Ctg	p.V275L		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	275						integral to membrane		p.V275L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGACCTTGAGGTGAATCAGAC	0.378000													19	28					0	0	0.006122	0	0
PIR	8544	broad.mit.edu	37	X	15509315	15509315	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:15509315C>T	ENST00000380421.3	-	2	526	c.66G>A	c.(64-66)gcG>gcA	p.A22A	PIR_ENST00000476381.1_5'UTR|BMX_ENST00000357607.2_Intron|PIR_ENST00000380420.5_Silent_p.A22A	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	22					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TCCGGACCCTCGCTCCAACCC	0.522000													93	117					0	0	0.014410	0	0
SCYL3	57147	broad.mit.edu	37	1	169857941	169857941	+	Missense_Mutation	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:169857941C>G	ENST00000367771.6	-	2	255	c.41G>C	c.(40-42)aGa>aCa	p.R14T	SCYL3_ENST00000367770.1_Missense_Mutation_p.R14T|SCYL3_ENST00000367772.4_Missense_Mutation_p.R14T|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGTGGTTCTCTCAGTGTATA	0.423000													10	72					0	0	0.008291	0	0
TRPV6	55503	broad.mit.edu	37	7	142575431	142575431	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr7:142575431C>T	ENST00000359396.3	-	3	567	c.322G>A	c.(322-324)Gag>Aag	p.E108K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	108					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCATGGGCTCAAAGACCAGC	0.587000													58	76					0	0	0.014410	0	0
CLTC	1213	broad.mit.edu	37	17	57754351	57754351	+	Silent	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr17:57754351T>A	ENST00000269122.3	+	17	2872	c.2598T>A	c.(2596-2598)atT>atA	p.I866I	CLTC_ENST00000393043.1_Silent_p.I866I|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	866	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGGCCAGAATTCATGAGGGCT	0.408000			T	"""ALK, TFE3"""	"""ALCL, renal """								8	14					0	0	0.003080	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291023	141291023	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:141291023C>T	ENST00000247452.3	-	3	1098	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	251	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGCACTTCCCAGATGACC	0.517000										HNSCC(46;0.14)			59	129					0	0	0.014410	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986797	11986797	+	RNA	SNP	C	C	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:11986797C>G	ENST00000434078.2	+	0	608					NR_027425.1																						TAGAGTGAGTCTTCCTCCATG	0.483000													10	96					0	0	0.002450	0	0
KTN1	3895	broad.mit.edu	37	14	56107858	56107858	+	Missense_Mutation	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:56107858G>C	ENST00000416613.1	+	16	2107	c.2035G>C	c.(2035-2037)Gat>Cat	p.D679H	KTN1_ENST00000395311.1_Missense_Mutation_p.D679H|KTN1_ENST00000438792.2_Missense_Mutation_p.D679H|KTN1_ENST00000395308.1_Missense_Mutation_p.D679H|KTN1_ENST00000395309.3_Missense_Mutation_p.D679H|KTN1_ENST00000413890.2_Missense_Mutation_p.D679H|KTN1_ENST00000395314.3_Missense_Mutation_p.D679H			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	679					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TTATGTTAAAGATGATAAAAT	0.303000			T	RET	papillary thryoid								7	14					0	0	0.001984	0	0
TRAF6	7189	broad.mit.edu	37	11	36523047	36523047	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:36523047C>T	ENST00000526995.1	-	2	265	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	TRAF6_ENST00000348124.5_Missense_Mutation_p.E7K	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	7	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CAGCTGTTTTCACAGTTTAGC	0.448000													11	17					0	0	0.010729	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													3	55					0	0	0.004672	0	0
MEP1B	4225	broad.mit.edu	37	18	29797898	29797898	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr18:29797898C>T	ENST00000269202.6	+	14	2108	c.2061C>T	c.(2059-2061)agC>agT	p.S687S	MEP1B_ENST00000581447.1_Silent_p.S687S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	687					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAAGGATGAGCTCAAATCGAC	0.398000													4	22					0	0	0.000602	0	0
POLR2C	5432	broad.mit.edu	37	16	57504205	57504205	+	Missense_Mutation	SNP	T	T	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:57504205T>C	ENST00000219252.5	+	8	960	c.622T>C	c.(622-624)Tac>Cac	p.Y208H		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	208					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						AAAGAGTGAGTACTCGGAGCT	0.547000													10	14					0	0	0.008291	0	0
WTAP	9589	broad.mit.edu	37	6	160169296	160169296	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:160169296C>T	ENST00000358372.4	+	6	2104	c.347C>T	c.(346-348)gCg>gTg	p.A116V	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.A116V	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	116					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GTAGACCCAGCGATCAACTTG	0.443000													11	8					0	0	0.008291	0	0
NFKB2	4791	broad.mit.edu	37	10	104157318	104157318	+	Silent	SNP	A	A	G			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr10:104157318A>G	ENST00000369966.3	+	8	787	c.537A>G	c.(535-537)aaA>aaG	p.K179K	NFKB2_ENST00000189444.6_Silent_p.K179K|NFKB2_ENST00000428099.1_Silent_p.K179K	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	179	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		AAGAGGCCAAAGAACTGAAGA	0.592000			T	IGH@	B-NHL								38	65					0	0	0.004878	0	0
RANBP2	5903	broad.mit.edu	37	2	109382445	109382445	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:109382445C>T	ENST00000283195.6	+	20	5576	c.5450C>T	c.(5449-5451)gCt>gTt	p.A1817V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1817					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTGCAGAAGCTCCTTCAGCT	0.408000													6	34					0	0	0.001168	0	0
AP1G2	8906	broad.mit.edu	37	14	24029009	24029009	+	Silent	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr14:24029009C>T	ENST00000308724.5	-	21	3062	c.2307G>A	c.(2305-2307)tcG>tcA	p.S769S	AP1G2_ENST00000397120.3_Silent_p.S769S|THTPA_ENST00000288014.6_3'UTR|RP11-66N24.4_ENST00000553985.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	769	GAE.				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCTCCTGCACCGACTGGTGAA	0.562000											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	39					0	0	0.008291	0	0
CC2D1A	54862	broad.mit.edu	37	19	14038827	14038827	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:14038827C>T	ENST00000318003.7	+	23	2679	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P813L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	813					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GACCCTGTGCCGGCAGCTGTG	0.637000													52	24					0	0	0.014410	0	0
ZNF589	51385	broad.mit.edu	37	3	48310197	48310197	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:48310197G>A	ENST00000354698.3	+	4	1088	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	339					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGTGTGGGCGAGGCTTTCGT	0.502000													16	84					0	0	0.004990	0	0
POLR1B	84172	broad.mit.edu	37	2	113300040	113300040	+	Missense_Mutation	SNP	G	G	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:113300040G>A	ENST00000541869.1	+	2	199	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000263331.5_5'UTR|POLR1B_ENST00000409894.3_5'UTR			Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	0					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGCGTGTACCGAGAGACTGGC	0.642000													31	19					0	0	0.008361	0	0
LAIR2	3904	broad.mit.edu	37	19	55014120	55014120	+	Translation_Start_Site	SNP	T	T	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr19:55014120T>A	ENST00000301202.2	+	0	108					NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2							extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GCTGCAGAGTTCTGGGACCGG	0.632000													11	72					0	0	0.001855	0	0
SLC45A1	50651	broad.mit.edu	37	1	8403885	8403885	+	Missense_Mutation	SNP	G	G	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:8403885G>T	ENST00000471889.1	+	9	2444	c.2059G>T	c.(2059-2061)Gct>Tct	p.A687S	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A721S|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A687S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	687					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTTCCTGGCTCAGATTCT	0.642000													17	57					3.51602e-12	3.86221e-12	0.008871	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6114541	6114541	+	Missense_Mutation	SNP	C	C	T			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:6114541C>T	ENST00000409021.3	-	2	486	c.37G>A	c.(37-39)Gag>Aag	p.E13K	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E13K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E13K|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E13K|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E13K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	13	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTCCATCTCGGGCTTCTCG	0.612000													22	62					0	0	0.002780	0	0
FANCA	2175	broad.mit.edu	37	16	89857865	89857865	+	Silent	SNP	G	G	C			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:89857865G>C	ENST00000389301.3	-	14	1335	c.1305C>G	c.(1303-1305)cgC>cgG	p.R435R	FANCA_ENST00000568369.1_Silent_p.R435R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	435			R -> C (in FA).		DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGCTGCCTGGCGCACAACCA	0.552000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				18	18					0	0	0.007413	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	Missense_Mutation	SNP	G	G	C	rs143919579	by1000genomes	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr2:132905792G>C	ENST00000409867.1	-	6	938	c.689C>G	c.(688-690)tCt>tGt	p.S230C	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like									p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443000													2	10					0	0	0.004672	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807481	18807497	+	Frame_Shift_Del	DEL	CCCCAGAGGAGCAGAGG	CCCCAGAGGAGCAGAGG	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:18807481_18807497delCCCCAGAGGAGCAGAGG	ENST00000400664.1	+	1	58_74	c.6_22delCCCCAGAGGAGCAGAGG	c.(4-24)ttccccagaggagcagaggccfs	p.PRGAEA3fs		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	3						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCATGTTCCCCAGAGGAGCAGAGGCCCAGGACTG	0.581													15	31	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													8	130	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201983137	201983153	+	Splice_Site	DEL	TGAGCCGGGCCATGAGG	TGAGCCGGGCCATGAGG	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr1:201983137_201983153delTGAGCCGGGCCATGAGG	ENST00000359651.3	+	7	4178_4193	c.986_1001delTGAGCCGGGCCATGAGG	c.(985-1002)ctgagccgggccatgagg>cg	p.LSRAMR329fs	ELF3_ENST00000367283.3_Splice_Site_p.LSRAMR329fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Splice_Site_p.LSRAMR329fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	329					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R331R(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TACGAGAAGCTGAGCCGGGCCATGAGGTGAGCTGGCG	0.590													14	3	---	---	---	---					
IL12A-AS1	101928376	broad.mit.edu	37	3	159820108	159820109	+	RNA	INS	-	-	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr3:159820108_159820109insA	ENST00000497452.1	-	0	517																											CTTGACACAGCAAAAAAAAATG	0.441													11	175	---	---	---	---					
HERC6	55008	broad.mit.edu	37	4	89300153	89300161	+	In_Frame_Del	DEL	AGGCGGCCA	AGGCGGCCA	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr4:89300153_89300161delAGGCGGCCA	ENST00000380265.5	+	1	263_271	c.80_88delAGGCGGCCA	c.(79-90)caggcggccagc>cgc	p.27_30QAAS>R	HERC6_ENST00000264346.7_In_Frame_Del_p.27_30QAAS>R|HERC6_ENST00000273960.3_In_Frame_Del_p.27_30QAAS>R	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	27					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAGCTACTGCAGGCGGCCAGCGGGGAGCG	0.722													7	10	---	---	---	---					
TMED9	54732	broad.mit.edu	37	5	177019252	177019268	+	Frame_Shift_Del	DEL	CGGCCCGGAACCGGGCT	CGGCCCGGAACCGGGCT	-	rs57960711	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr5:177019252_177019268delCGGCCCGGAACCGGGCT	ENST00000332598.6	+	1	94_110	c.37_53delCGGCCCGGAACCGGGCT	c.(37-54)cggcccggaaccgggctgfs	p.RPGTGL13fs		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	13					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		p.L18L(1)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTCCGGCCCCGGCCCGGAACCGGGCTGGGTAGAGTG	0.696													10	10	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000350082.5_Splice_Site_p.K221fs	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													7	175	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	125015471	125015472	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr8:125015471_125015472insA	ENST00000522917.1	+	13	1790_1791	c.1584_1585insA	c.(1585-1587)gaafs	p.E529fs	FER1L6_ENST00000399018.1_Frame_Shift_Ins_p.E529fs|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	529						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)			CTGAATCAGCTGAAGAAGACCT	0.535													20	46	---	---	---	---					
ABCC8	6833	broad.mit.edu	37	11	17428979	17428979	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr11:17428979delC	ENST00000302539.4	-	24	2970	c.2845delG	c.(2845-2847)gccfs	p.A949fs	ABCC8_ENST00000389817.3_Frame_Shift_Del_p.A948fs	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	948					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCTCTGTGGCTTTTCTCTCT	0.542													20	78	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28913367	28913367	+	RNA	DEL	T	T	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr15:28913367delT	ENST00000528584.1	+	0	1224					NR_036443.1																						TGAGTTCTCCTTTTTTTTTTT	0.308													2	4	---	---	---	---					
LCAT	3931	broad.mit.edu	37	16	67974100	67974109	+	Frame_Shift_Del	DEL	GCAGGCCCAC	GCAGGCCCAC	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr16:67974100_67974109delGCAGGCCCAC	ENST00000264005.5	-	6	1050_1059	c.1021_1030delGTGGGCCTGC	c.(1021-1032)gtgggcctgcccfs	p.VGLP341fs		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	341					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)		CGGGGCGTGGGCAGGCCCACGCCGTAAAGA	0.610													30	121	---	---	---	---					
IGLV5-37	28783	broad.mit.edu	37	22	22782185	22782201	+	RNA	DEL	AGGGAGCCCTCCCAGGT	AGGGAGCCCTCCCAGGT	-	rs75842692	byFrequency	TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chr22:22782185_22782201delAGGGAGCCCTCCCAGGT	ENST00000390300.2	+	0	188_204																											AGCAGAAGCCAGGGAGCCCTCCCAGGTATCTCCTGTA	0.539													9	70	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44929165	44929165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E5-A2PC-01A-11D-A202-08	TCGA-E5-A2PC-10B-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62b9f71c-2dab-455a-a454-579e8843f712	bad04664-6ccb-4b10-addf-357be540b43e	g.chrX:44929165delG	ENST00000377967.4	+	17	2306	c.2265delG	c.(2263-2265)acgfs	p.T755fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.T676fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.T710fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.T762fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	755					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATCAGATGACGGCAGATGCTG	0.488			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								10	16	---	---	---	---					
