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
FAM193A	8603	broad.mit.edu	37	4	2661312	2661312	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:2661312G>A	ENST00000324666.5	+	7	895	c.544G>A	c.(544-546)Gag>Aag	p.E182K	FAM193A_ENST00000505311.1_Missense_Mutation_p.E182K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E206K|FAM193A_ENST00000382839.3_Missense_Mutation_p.E182K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E182K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	182										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGTTACTGGCGAGAACAACTT	0.453000													9	39					0	0	0.058154	0	0
POLR3A	11128	broad.mit.edu	37	10	79760814	79760814	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:79760814C>A	ENST00000372371.3	-	18	2535	c.2398G>T	c.(2398-2400)Gga>Tga	p.G800*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	800					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.G800*(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTGCTGTCCCACACAGGCA	0.443000													9	57					0.00448238	0.00450687	0.047766	1	0
POLL	27343	broad.mit.edu	37	10	103339236	103339236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:103339236G>A	ENST00000370162.3	-	9	2196	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	DPCD_ENST00000416979.2_Intron|POLL_ENST00000370168.3_Nonsense_Mutation_p.R241*|DPCD_ENST00000470165.1_Intron|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000299206.4_Nonsense_Mutation_p.R568*|POLL_ENST00000456836.2_Nonsense_Mutation_p.R305*|POLL_ENST00000370158.3_Nonsense_Mutation_p.R293*|POLL_ENST00000370169.1_Nonsense_Mutation_p.R568*|POLL_ENST00000370172.1_Nonsense_Mutation_p.R480*|POLL_ENST00000339310.3_Nonsense_Mutation_p.R291*	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	568					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCAGGTTCTCGGTAGGGGAGG	0.647000								DNA polymerases (catalytic subunits)					14	49					0	0	0.119110	0	0
RP1	6101	broad.mit.edu	37	8	55542592	55542592	+	Silent	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:55542592T>C	ENST00000220676.1	+	4	6298	c.6150T>C	c.(6148-6150)aaT>aaC	p.N2050N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2050					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGATTCAAATACACAAGACC	0.338000													6	46					0	0	0.021553	0	0
ADORA3	140	broad.mit.edu	37	1	112031442	112031442	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:112031442G>A	ENST00000369716.4	-	3	795	c.662C>T	c.(661-663)aCt>aTt	p.T221I	ADORA3_ENST00000369717.4_Missense_Mutation_p.T140I	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GCAGGACATAGTGACAATGAG	0.532000													12	36					0	0	0.105934	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775835	234775835	+	RNA	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:234775835C>G	ENST00000438684.1	-	0	279					NR_024322.1																						ACTGTTCTTTCTTCCATTTCC	0.383000													4	32					0	0	0.009096	0	0
ANKHD1	54882	broad.mit.edu	37	5	139918552	139918552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:139918552C>T	ENST00000297183.6	+	33	7577	c.7453C>T	c.(7453-7455)Cag>Tag	p.Q2485*	ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q2485*|ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.Q2485*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.Q809*	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCATCCTCAGCTTGCTGA	0.373000													20	75					0	0	0.076483	0	0
APBB1	322	broad.mit.edu	37	11	6432243	6432243	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:6432243C>T	ENST00000389906.2	-	2	434	c.335G>A	c.(334-336)gGc>gAc	p.G112D	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.G112D|APBB1_ENST00000299402.6_Missense_Mutation_p.G112D	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	112					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTGTATCAGGCCTTTGGGGCC	0.632000													45	182					0	0	0.139131	0	0
OR1J4	26219	broad.mit.edu	37	9	125282179	125282179	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:125282179A>G	ENST00000340750.1	+	1	760	c.760A>G	c.(760-762)Aca>Gca	p.T254A		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GTATTATGGCACAATTATTGG	0.493000													16	70					0	0	0.146539	0	0
THUMPD2	80745	broad.mit.edu	37	2	39963988	39963988	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:39963988C>G	ENST00000505747.1	-	10	1426	c.1399G>C	c.(1399-1401)Gac>Cac	p.D467H	THUMPD2_ENST00000260619.6_Missense_Mutation_p.D437H	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	467							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GACATTCTGTCTAAGAATTTG	0.403000													26	143					0	0	0.116897	0	0
LTN1	26046	broad.mit.edu	37	21	30303556	30303556	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:30303556G>A	ENST00000361371.4	-	29	5309	c.5159C>T	c.(5158-5160)tCa>tTa	p.S1720L	LTN1_ENST00000389194.2_Missense_Mutation_p.S1766L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1720							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTGAATGACTGAGAAACAGAT	0.363000													14	61					0	0	0.105934	0	0
DSCAM	1826	broad.mit.edu	37	21	41725414	41725414	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:41725414C>T	ENST00000400454.1	-	5	1389	c.912G>A	c.(910-912)gtG>gtA	p.V304V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	304	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCGGCCTATCACCTTAGCAG	0.502000													28	152					0	0	0.125774	0	0
NISCH	11188	broad.mit.edu	37	3	52521429	52521429	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:52521429G>A	ENST00000345716.4	+	16	2055	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	NISCH_ENST00000479054.1_Missense_Mutation_p.E641K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	641	Glu-rich.|Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ggaggaggatgaggaggagga	0.652000													12	23					0	0	0.093190	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154525286	154525286	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:154525286G>C	ENST00000292211.4	-	6	819	c.740C>G	c.(739-741)tCt>tGt	p.S247C	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	247							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCGAGCCAGACACTGCACC	0.562000													9	50					0	0	0.080935	0	0
TNIK	23043	broad.mit.edu	37	3	170800121	170800121	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:170800121T>C	ENST00000436636.2	-	27	3576	c.3232A>G	c.(3232-3234)Aaa>Gaa	p.K1078E	TNIK_ENST00000369326.5_Missense_Mutation_p.K1056E|TNIK_ENST00000460047.1_Missense_Mutation_p.K1015E|TNIK_ENST00000475336.1_Missense_Mutation_p.K986E|TNIK_ENST00000341852.6_Missense_Mutation_p.K994E|TNIK_ENST00000538048.1_Missense_Mutation_p.K1030E|TNIK_ENST00000284483.8_Missense_Mutation_p.K1070E|TNIK_ENST00000488470.1_Missense_Mutation_p.K1023E|TNIK_ENST00000470834.1_Missense_Mutation_p.K1041E|TNIK_ENST00000357327.5_Missense_Mutation_p.K1049E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1078	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTATAGACTTTGCCTTGCCCA	0.438000													5	195					0	0	0.014758	0	0
CPS1	1373	broad.mit.edu	37	2	211459299	211459299	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:211459299C>T	ENST00000233072.5	+	12	1428	c.1232C>T	c.(1231-1233)cCg>cTg	p.P411L	CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.P417L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	411					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TCAGTCTTACCGAAGCCAGCA	0.363000													10	41					0	0	0.093190	0	0
POLR3D	661	broad.mit.edu	37	8	22106636	22106636	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:22106636C>T	ENST00000397802.4	+	6	950	c.735C>T	c.(733-735)ctC>ctT	p.L245L	POLR3D_ENST00000306433.4_Silent_p.L245L			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	245					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTCCAGGCCTCCCGAAGGATG	0.592000													4	39					0	0	0.009096	0	0
AXL	558	broad.mit.edu	37	19	41765694	41765694	+	Missense_Mutation	SNP	C	C	T	rs61737385		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:41765694C>T	ENST00000301178.4	+	20	2760	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	AXL_ENST00000593513.1_Missense_Mutation_p.A589V|AXL_ENST00000359092.3_Missense_Mutation_p.A848V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	857						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGCCTCACTGCGGCTGAGGTC	0.637000													7	42					0	0	0.029380	0	0
MICALCL	84953	broad.mit.edu	37	11	12345523	12345523	+	Splice_Site	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:12345523A>G	ENST00000256186.2	+	5	1833		c.e5-1			NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like						cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGGTTTTCATAGGAGAAGAAG	0.353000													3	77					0	0	0.009096	0	0
POC5	134359	broad.mit.edu	37	5	74981280	74981280	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:74981280C>G	ENST00000428202.2	-	10	1348	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	POC5_ENST00000510798.1_Missense_Mutation_p.E270Q|POC5_ENST00000380475.2_Missense_Mutation_p.E270Q|POC5_ENST00000446329.2_Missense_Mutation_p.E362Q|POC5_ENST00000514838.2_Missense_Mutation_p.E359Q	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	387					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGACCATACTCTTCCTTTTTA	0.398000													17	139					0	0	0.049695	0	0
NLRP4	147945	broad.mit.edu	37	19	56369057	56369057	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:56369057C>G	ENST00000301295.6	+	3	720	c.298C>G	c.(298-300)Caa>Gaa	p.Q100E	NLRP4_ENST00000346986.5_Missense_Mutation_p.Q100E|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q25E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	100							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAAGACCTATCAAGCTCACGC	0.423000													17	74					0	0	0.038395	0	0
CSMD3	114788	broad.mit.edu	37	8	113960032	113960032	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:113960032C>T	ENST00000297405.5	-	9	1739	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G459R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G499R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G395R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	499	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATCTGATCCGATTCTCTTC	0.294000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	60					0	0	0.105934	0	0
PCCA	5095	broad.mit.edu	37	13	100915005	100915005	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr13:100915005C>G	ENST00000376285.1	+	10	777	c.739C>G	c.(739-741)Caa>Gaa	p.Q247E	PCCA_ENST00000376286.4_Missense_Mutation_p.Q221E|PCCA_ENST00000376279.3_Missense_Mutation_p.Q247E	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	247	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATTGTCATCTCAAGAAGCTGC	0.418000													30	136					0	0	0.050027	0	0
NUP210L	91181	broad.mit.edu	37	1	154029395	154029395	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:154029395C>G	ENST00000368559.3	-	23	3207	c.3136G>C	c.(3136-3138)Gaa>Caa	p.E1046Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1046Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1046						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATATAATTTTCAGAGTATTCG	0.418000													11	48					0	0	0.080935	0	0
MMP16	4325	broad.mit.edu	37	8	89180146	89180146	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:89180146C>T	ENST00000286614.6	-	4	742	c.461G>A	c.(460-462)cGt>cAt	p.R154H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	154					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATCAAAGGCACGGCGAATAGC	0.368000													7	46					0	0	0.038147	0	0
PCNX	22990	broad.mit.edu	37	14	71493536	71493536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:71493536C>T	ENST00000304743.2	+	15	3849	c.3403C>T	c.(3403-3405)Cag>Tag	p.Q1135*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.Q1024*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.Q1135*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1135						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTCCTGCCTCAGGTGAATAC	0.284000													14	64					0	0	0.038395	0	0
SRRM2	23524	broad.mit.edu	37	16	2816182	2816182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:2816182C>T	ENST00000301740.8	+	11	6202	c.5653C>T	c.(5653-5655)Cga>Tga	p.R1885*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1885	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGATAAGCCGACGTAGGTC	0.592000													9	49					0	0	0.047766	0	0
MYO1E	4643	broad.mit.edu	37	15	59455404	59455404	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr15:59455404C>T	ENST00000288235.4	-	23	2978	c.2579G>A	c.(2578-2580)cGt>cAt	p.R860H		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	860					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTCCTCGTAACGCTTTGCTAA	0.433000													7	27					0	0	0.038147	0	0
TDP1	55775	broad.mit.edu	37	14	90433740	90433740	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:90433740C>T	ENST00000335725.4	+	5	883	c.633C>T	c.(631-633)ctC>ctT	p.L211L	TDP1_ENST00000555880.1_Silent_p.L211L|TDP1_ENST00000393454.2_Silent_p.L211L|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393452.3_Silent_p.L211L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	211					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGACTGGCTCGTAAAACAGT	0.408000								Repair of DNA-protein crosslinks					18	81					0	0	0.076483	0	0
IFFO1	25900	broad.mit.edu	37	12	6664531	6664531	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:6664531A>G	ENST00000336604.4	-	1	706	c.665T>C	c.(664-666)gTg>gCg	p.V222A	IFFO1_ENST00000356896.4_Missense_Mutation_p.V222A|IFFO1_ENST00000396840.2_Missense_Mutation_p.V222A	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	222						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						ATCCGGGTGCACCCACGACAA	0.682000													8	50					0	0	0.047766	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	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)			73	123					0	0	0.139131	0	0
FLG2	388698	broad.mit.edu	37	1	152331346	152331346	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:152331346C>G	ENST00000388718.5	-	2	87	c.15G>C	c.(13-15)ttG>ttC	p.L5F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	5	S-100-like (By similarity).						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAACACTTCTCAAGAGGTCGG	0.393000													13	62					0	0	0.105934	0	0
PCDH1	5097	broad.mit.edu	37	5	141248480	141248480	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:141248480A>C	ENST00000287008.3	-	2	704	c.557T>G	c.(556-558)cTc>cGc	p.L186R	PCDH1_ENST00000503492.1_Missense_Mutation_p.L186R|PCDH1_ENST00000536585.1_Missense_Mutation_p.L164R|PCDH1_ENST00000456271.1_Missense_Mutation_p.L186R|PCDH1_ENST00000394536.3_Missense_Mutation_p.L186R	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	186	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GATGGGGAAGAGTGAGCCGAT	0.572000													46	204					0	0	0.139131	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	74					0	0	0.115264	0	0
NAV3	89795	broad.mit.edu	37	12	78513538	78513538	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:78513538C>T	ENST00000397909.2	+	15	3735	c.3562C>T	c.(3562-3564)Cgc>Tgc	p.R1188C	NAV3_ENST00000228327.6_Missense_Mutation_p.R1188C|NAV3_ENST00000536525.2_Missense_Mutation_p.R1188C|NAV3_ENST00000266692.7_Missense_Mutation_p.R1188C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1188	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1188S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGGTCAGGGCGCTCGAGTCC	0.493000										HNSCC(70;0.22)			9	43					0	0	0.069234	0	0
EP300	2033	broad.mit.edu	37	22	41531855	41531855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:41531855C>T	ENST00000263253.7	+	7	2786	c.1567C>T	c.(1567-1569)Caa>Taa	p.Q523*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	523					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTAGGAGTTCAAACGCCGAG	0.373000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	46					0	0	0.146539	0	0
OR51V1	283111	broad.mit.edu	37	11	5221401	5221401	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:5221401T>A	ENST00000321255.1	-	1	529	c.530A>T	c.(529-531)tAc>tTc	p.Y177F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATGACAGTAATTAAAAAA	0.393000													18	64					0	0	0.043863	0	0
DIAPH1	1729	broad.mit.edu	37	5	140903714	140903714	+	Silent	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140903714A>G	ENST00000253811.6	-	27	3800	c.3660T>C	c.(3658-3660)cgT>cgC	p.R1220R	DIAPH1_ENST00000398562.2_Silent_p.R1195R|DIAPH1_ENST00000398566.3_Silent_p.R1211R|DIAPH1_ENST00000389054.3_Silent_p.R1216R|DIAPH1_ENST00000389057.5_Silent_p.R1210R|DIAPH1_ENST00000520569.1_Silent_p.R1162R|DIAPH1_ENST00000398557.4_Silent_p.R1219R|DIAPH1_ENST00000518047.1_Silent_p.R1207R			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1219	DAD.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTACCTTGACGGGGCCCTC	0.532000													14	65					0	0	0.132662	0	0
ATG2B	55102	broad.mit.edu	37	14	96783566	96783566	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:96783566G>A	ENST00000359933.4	-	20	4019	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1042										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGTTCTGAGAGTCTAATTTTT	0.373000													12	60					0	0	0.080935	0	0
CCDC129	223075	broad.mit.edu	37	7	31692184	31692184	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:31692184A>G	ENST00000319386.3	+	14	3425	c.2432A>G	c.(2431-2433)cAa>cGa	p.Q811R	CCDC129_ENST00000451887.2_Missense_Mutation_p.Q985R|CCDC129_ENST00000409210.1_Missense_Mutation_p.Q867R|CCDC129_ENST00000407970.3_Missense_Mutation_p.Q959R			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	959	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AATCTGCATCAATATAACTGG	0.468000													3	16					0	0	0.009096	0	0
ISYNA1	51477	broad.mit.edu	37	19	18546719	18546719	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:18546719C>T	ENST00000545187.1	-	5	824	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	ISYNA1_ENST00000457269.3_Missense_Mutation_p.V276M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.V128M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.V202M|ISYNA1_ENST00000338128.7_Missense_Mutation_p.V330M			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	330					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTGTAACTCACGATGGACATG	0.622000													40	160					0	0	0.117977	0	0
CCT6B	10693	broad.mit.edu	37	17	33288392	33288392	+	Silent	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:33288392G>C	ENST00000314144.5	-	1	136	c.21C>G	c.(19-21)gtC>gtG	p.V7V	CCT6B_ENST00000421975.3_Silent_p.V7V|CCT6B_ENST00000436961.3_Silent_p.V7V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	7					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CCTTGGAGTTGACGGCCTTTA	0.572000													4	48					0	0	0.029380	0	0
DENND3	22898	broad.mit.edu	37	8	142178285	142178285	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:142178285G>A	ENST00000519811.1	+	13	2006	c.1936G>A	c.(1936-1938)Gtt>Att	p.V646I	DENND3_ENST00000424248.1_Missense_Mutation_p.V514I|DENND3_ENST00000262585.2_Missense_Mutation_p.V566I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	566										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGAGGGCTCGTTTATCTGAT	0.522000													14	152					0	0	0.105934	0	0
USP47	55031	broad.mit.edu	37	11	11971469	11971469	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:11971469A>G	ENST00000339865.5	+	22	3941	c.3178A>G	c.(3178-3180)Aaa>Gaa	p.K1060E	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.K1148E|USP47_ENST00000527733.1_Missense_Mutation_p.K1128E	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1148					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGTGTTTGCTAAAGGAATGAC	0.338000													6	36					0	0	0.029380	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512279	101512279	+	RNA	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:101512279T>C	ENST00000553692.1	+	0	28				MIR381_ENST00000362150.1_RNA																							GGTTGCCCTTTGTATATTCGG	0.517000													3	13					0	0	0.014758	0	0
OR5D16	390144	broad.mit.edu	37	11	55606633	55606633	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:55606633G>A	ENST00000378396.1	+	1	406	c.406G>A	c.(406-408)Gtt>Att	p.V136I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTCTACACAGTTGCCATCTC	0.453000													20	83					0	0	0.049695	0	0
LPPR4	9890	broad.mit.edu	37	1	99771596	99771596	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:99771596C>T	ENST00000370185.3	+	7	1819	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	LPPR4_ENST00000370184.1_Missense_Mutation_p.S283F|LPPR4_ENST00000457765.1_Missense_Mutation_p.S383F	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		441							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTATGGATTCCGCTCGATCA	0.498000													18	75					0	0	0.038395	0	0
SMC1A	8243	broad.mit.edu	37	X	53426517	53426517	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:53426517G>A	ENST00000322213.4	-	16	2683	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	852					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTACCTTTTTGAGCTTTTCTA	0.363000													13	28					0	0	0.146539	0	0
MYO3B	140469	broad.mit.edu	37	2	171055792	171055792	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:171055792C>T	ENST00000334231.6	+	2	104	c.104C>T	c.(103-105)aCc>aTc	p.T35I	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.T26I|MYO3B_ENST00000408978.4_Missense_Mutation_p.T26I			Q8WXR4	MYO3B_HUMAN	myosin IIIB	26	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CCCACAGACACCTGGGAAATT	0.413000													8	43					0	0	0.047766	0	0
AIFM1	9131	broad.mit.edu	37	X	129272623	129272623	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:129272623C>T	ENST00000287295.3	-	9	1142	c.912G>A	c.(910-912)acG>acA	p.T304T	AIFM1_ENST00000319908.3_Silent_p.T300T|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Silent_p.T217T	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	304	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CACCGATAATCGTAATTGATT	0.433000													51	35					0	0	0.139131	0	0
MMP13	4322	broad.mit.edu	37	11	102816405	102816405	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:102816405C>T	ENST00000260302.3	-	9	1313	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	MMP13_ENST00000340273.4_Missense_Mutation_p.D429N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	429	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TCTACTTTATCACCAATTCCT	0.338000													17	58					0	0	0.043863	0	0
EHMT1	79813	broad.mit.edu	37	9	140657192	140657192	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:140657192C>T	ENST00000460843.1	+	10	1594	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R492W|EHMT1_ENST00000462484.1_Missense_Mutation_p.R523W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	523					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGCAGCTGCCGGATGGAAAC	0.537000													8	36					0	0	0.047766	0	0
PARP11	57097	broad.mit.edu	37	12	3931108	3931108	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:3931108G>A	ENST00000228820.4	-	6	623	c.479C>T	c.(478-480)aCg>aTg	p.T160M	PARP11_ENST00000427057.2_Missense_Mutation_p.T79M|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.T153M|PARP11_ENST00000447133.3_Missense_Mutation_p.T79M	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	153	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.T153M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GCGATCCATCGTCTTCCCAAA	0.348000													19	72					0	0	0.062417	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176769363	176769363	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:176769363C>T	ENST00000430069.1	-	5	615	c.356G>A	c.(355-357)aGc>aAc	p.S119N	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.S119N			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	119					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCCTTGTTGGCTGGCTGCAGC	0.453000													13	290					0	0	0.132662	0	0
MAN1A2	10905	broad.mit.edu	37	1	117984891	117984891	+	Silent	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:117984891C>G	ENST00000356554.3	+	6	1629	c.894C>G	c.(892-894)ctC>ctG	p.L298L		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	298					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CTGAGAAACTCCTTCCTGCCT	0.343000													14	97					0	0	0.132662	0	0
GPR162	27239	broad.mit.edu	37	12	6933294	6933294	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:6933294G>A	ENST00000311268.3	+	2	1017	c.230G>A	c.(229-231)cGt>cAt	p.R77H	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAGCTGCGTCGTCAGGCTTCC	0.602000													11	62					0	0	0.093190	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68252948	68252948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:68252948G>A	ENST00000347230.4	-	17	3160	c.3022C>T	c.(3022-3024)Cga>Tga	p.R1008*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.R1008*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1008					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTATCCGTCGACCTGGAAAT	0.388000													8	19					0	0	0.038147	0	0
PIK3CB	5291	broad.mit.edu	37	3	138417818	138417818	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:138417818C>G	ENST00000477593.1	-	12	1774	c.1701G>C	c.(1699-1701)gaG>gaC	p.E567D	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E567D|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E13D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	567	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTGGGAAAATCTCTCGGCAGT	0.378000													21	104					0	0	0.049695	0	0
SLC15A2	6565	broad.mit.edu	37	3	121649690	121649690	+	Silent	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:121649690T>C	ENST00000489711.1	+	18	1945	c.1557T>C	c.(1555-1557)ttT>ttC	p.F519F	SLC15A2_ENST00000295605.2_Silent_p.F488F|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	519					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCCTCAGGTTTGTTAACACTT	0.383000													10	45					0	0	0.069234	0	0
RET	5979	broad.mit.edu	37	10	43606744	43606744	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:43606744G>A	ENST00000355710.3	+	7	1585	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	RET_ENST00000340058.5_Silent_p.T451T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	451					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACTGCAGCACGCTAGGGGTGG	0.582000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				10	67					0	0	0.093190	0	0
KCTD8	386617	broad.mit.edu	37	4	44449818	44449818	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:44449818G>A	ENST00000360029.3	-	1	1006	c.723C>T	c.(721-723)atC>atT	p.I241I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	241						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I241I(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGGCCAGCGCGATGCGCCCGC	0.667000										HNSCC(17;0.042)			4	12					0	0	0.009096	0	0
RB1	5925	broad.mit.edu	37	13	48954379	48954379	+	Splice_Site	SNP	T	T	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr13:48954379T>G	ENST00000267163.4	+	16	1636		c.e16+2			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATATAGCAGTAAGTTAAATT	0.338000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	10					0	0	0.009096	0	0
ADAM12	8038	broad.mit.edu	37	10	127726869	127726869	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:127726869G>A	ENST00000368679.4	-	20	2608	c.2299C>T	c.(2299-2301)Cac>Tac	p.H767Y		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	767					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCCGAGGTGAGCCTGACAG	0.587000													3	18					0	0	0.009096	0	0
PSMA6	5687	broad.mit.edu	37	14	35786477	35786477	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:35786477G>C	ENST00000556506.1	+	6	615	c.611G>C	c.(610-612)tGa>tCa	p.*204S	PSMA6_ENST00000540871.1_Missense_Mutation_p.D217H|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.D242H|PSMA6_ENST00000555764.1_Missense_Mutation_p.D157H|PSMA6_ENST00000261479.4_Missense_Mutation_p.D236H			P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	0					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 NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCAGAGATTGATGCTCACCT	0.373000													29	131					0	0	0.054565	0	0
ZNF625-ZNF20	100529855	broad.mit.edu	37	19	12258584	12258584	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:12258584A>T	ENST00000430024.1	-	2	209	c.37T>A	c.(37-39)Ttc>Atc	p.F13I	ZNF625_ENST00000542938.1_5'UTR|ZNF625_ENST00000355738.1_5'UTR|ZNF625_ENST00000455799.1_Missense_Mutation_p.F13I|ZNF625_ENST00000439556.2_Missense_Mutation_p.F13I																							TCCTGGGTGAAGTTCACATCT	0.473000													9	89					0	0	0.047766	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151235	11151235	+	Splice_Site	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:11151235G>A	ENST00000544779.1	-	5	484	c.477_splice	c.e5-1	p.A160_splice	EXOSC10_ENST00000376936.4_Splice_Site_p.A160_splice|EXOSC10_ENST00000304457.7_Splice_Site_p.A160_splice			Q01780	EXOSX_HUMAN	exosome component 10	160					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATATTCTGCTGCCTATGATCA	0.353000													14	67					0	0	0.132662	0	0
RPP40	10799	broad.mit.edu	37	6	4998960	4998960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:4998960C>T	ENST00000380051.2	-	5	593	c.549G>A	c.(547-549)tgG>tgA	p.W183*	RPP40_ENST00000464646.1_Nonsense_Mutation_p.W123*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.W160*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	183					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CTGTTTTATGCCAAGCCAAAA	0.299000													4	21					0	0	0.021553	0	0
ADAM10	102	broad.mit.edu	37	15	58925416	58925416	+	Silent	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr15:58925416A>G	ENST00000260408.3	-	9	1598	c.1155T>C	c.(1153-1155)gtT>gtC	p.V385V	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Silent_p.V84V|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	385	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGTTATGTCCAACTTCGTGAG	0.323000													13	29					0	0	0.146539	0	0
LRFN2	57497	broad.mit.edu	37	6	40360590	40360590	+	Missense_Mutation	SNP	C	C	T	rs55706368		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:40360590C>T	ENST00000338305.6	-	3	2004	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	488	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACACACAAGTCGTAGCCAGTC	0.597000													4	27					0	0	0.014758	0	0
SI	6476	broad.mit.edu	37	3	164750459	164750459	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:164750459T>C	ENST00000264382.3	-	24	2649	c.2587A>G	c.(2587-2589)Aca>Gca	p.T863A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	863	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GATGAATGTGTGCACACAATA	0.333000										HNSCC(35;0.089)			6	64					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179431566	179431566	+	Silent	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:179431566A>T	ENST00000589042.1	-	326	79517	c.79293T>A	c.(79291-79293)atT>atA	p.I26431I	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.I17366I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.I23863I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I24790I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.I17558I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.I17491I|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24790	Fibronectin type-III 92.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATCCATCGAATGCCACTTC	0.413000													5	70					0	0	0.029380	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51808014	51808014	+	RNA	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:51808014G>A	ENST00000456967.1	-	0	1838					NR_038275.1																						GGAGAGCTCGGAGGCTTTTGC	0.448000													31	118					0	0	0.045705	0	0
PQLC1	80148	broad.mit.edu	37	18	77664144	77664144	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:77664144G>C	ENST00000590381.1	-	4	548	c.377C>G	c.(376-378)tCa>tGa	p.S126*	PQLC1_ENST00000357575.4_Missense_Mutation_p.F198L|PQLC1_ENST00000397778.2_Missense_Mutation_p.F216L|PQLC1_ENST00000590895.1_5'UTR|PQLC1_ENST00000409073.1_Missense_Mutation_p.F133L	NM_001146343.1	NP_001139815.1	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	0						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		AGGCCGTCTTGAAGGCGTCAC	0.647000													14	20					0	0	0.146539	0	0
USP47	55031	broad.mit.edu	37	11	11971484	11971484	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:11971484C>T	ENST00000339865.5	+	22	3956	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.R1153W|USP47_ENST00000527733.1_Missense_Mutation_p.R1133W	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1153					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATGACTGTACGGCAATCAAA	0.358000													7	37					0	0	0.038147	0	0
C17orf66	256957	broad.mit.edu	37	17	34190080	34190080	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:34190080C>G	ENST00000311880.2	-	8	823	c.675G>C	c.(673-675)gaG>gaC	p.E225D	C17orf66_ENST00000592980.1_Missense_Mutation_p.E185D	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	225							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTCATTTTTCTCCTTCAGCT	0.537000													20	104					0	0	0.062417	0	0
MAP2	4133	broad.mit.edu	37	2	210559886	210559886	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:210559886C>A	ENST00000360351.4	+	7	3498	c.2992C>A	c.(2992-2994)Caa>Aaa	p.Q998K	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q994K|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	998					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AACCTATGAGCAAGCTTTGGC	0.418000													8	60					0.000157383	0.000159113	0.038147	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67318623	67318623	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:67318623C>T	ENST00000360461.5	+	12	4235	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.T567M|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.T567M|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.T486M	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGGCCTTGACGTGGGCTGAG	0.637000													5	28					0	0	0.021553	0	0
TEX2	55852	broad.mit.edu	37	17	62238187	62238187	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:62238187C>T	ENST00000258991.3	-	8	2883	c.2799G>A	c.(2797-2799)ctG>ctA	p.L933L	TEX2_ENST00000584379.1_Silent_p.L926L|TEX2_ENST00000583097.1_Silent_p.L926L			Q8IWB9	TEX2_HUMAN	testis expressed 2	926					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTCCAACCTTCAGGGCTTCAA	0.443000													54	213					0	0	0.139131	0	0
KLK3	354	broad.mit.edu	37	19	51361366	51361366	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:51361366C>A	ENST00000360617.3	+	3	288	c.288C>A	c.(286-288)ttC>ttA	p.F96L	KLK3_ENST00000326003.2_Missense_Mutation_p.F96L|KLK3_ENST00000593997.1_Missense_Mutation_p.F96L|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	96	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCCACAGCTTCCCACACCCGC	0.577000													13	41					1.49906e-05	1.52391e-05	0.119110	1	0
KLHDC8A	55220	broad.mit.edu	37	1	205306592	205306592	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:205306592C>T	ENST00000367156.3	-	9	1804	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	330										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCACGGCGAGGAGGCAG	0.597000													32	118					0	0	0.074837	0	0
KIF6	221458	broad.mit.edu	37	6	39513399	39513399	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:39513399G>A	ENST00000287152.7	-	11	1341	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	KIF6_ENST00000538893.1_Missense_Mutation_p.A416V|KIF6_ENST00000373216.3_Missense_Mutation_p.A416V|KIF6_ENST00000373215.3_Missense_Mutation_p.A416V|KIF6_ENST00000373213.4_Missense_Mutation_p.A255V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACGCATATCCGCGCCAACCTC	0.363000													7	83					0	0	0.047766	0	0
RASA4B	100271927	broad.mit.edu	37	7	102136619	102136619	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:102136619G>C	ENST00000481893.1	-	16	1947	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V	RASA4B_ENST00000306682.6_Missense_Mutation_p.L275V|RASA4B_ENST00000541662.1_Missense_Mutation_p.L347V|RASA4B_ENST00000465829.1_Missense_Mutation_p.L347V					RAS p21 protein activator 4B											skin(1)	1						TTTGAGGCCAGAGAGTTGCTC	0.537000													18	240					0	0	0.062417	0	0
LDHD	197257	broad.mit.edu	37	16	75146543	75146543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:75146543C>T	ENST00000300051.4	-	10	1361	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	LDHD_ENST00000450168.2_Missense_Mutation_p.E416K	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	439							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CCCAGTTCCTCGGCGTCATCA	0.602000													10	39					0	0	0.080935	0	0
RGS3	5998	broad.mit.edu	37	9	116353615	116353615	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:116353615G>T	ENST00000374140.2	+	22	3227	c.3018G>T	c.(3016-3018)atG>atT	p.M1006I	RGS3_ENST00000462143.1_Missense_Mutation_p.M327I|RGS3_ENST00000374134.3_Missense_Mutation_p.M327I|RGS3_ENST00000394646.3_Missense_Mutation_p.M399I|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.M725I|RGS3_ENST00000350696.5_Missense_Mutation_p.M1006I	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1006					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCGCAGATGAGCGGGGCTG	0.572000													8	52					3.09899e-07	3.18555e-07	0.047766	1	0
MLEC	9761	broad.mit.edu	37	12	121125205	121125205	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:121125205G>A	ENST00000228506.3	+	1	534	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	MLEC_ENST00000412616.2_Missense_Mutation_p.V36M	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	36					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CGTggccggcgtggccggcgc	0.746000													4	6					0	0	0.009096	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710925	140710925	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140710925C>T	ENST00000517417.1	+	1	674	c.674C>T	c.(673-675)aCc>aTc	p.T225I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T225I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCAGGGACCCTCAGAATT	0.507000													16	49					0	0	0.132662	0	0
SLF2	55719	broad.mit.edu	37	10	102683830	102683830	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:102683830G>C	ENST00000238961.3	+	5	1220	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	FAM178A_ENST00000370271.3_Missense_Mutation_p.E358Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E358Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	358																	AAAAGCAAGAGAGTCCTTCCT	0.398000													9	48					0	0	0.069234	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48131465	48131465	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:48131465G>A	ENST00000405493.2	-	28	2740	c.2531C>T	c.(2530-2532)tCg>tTg	p.S844L	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.S886L|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.S886L|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.S844L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.S777L|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.S844L	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	844					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGACTGCTCCGAGCCTGGTGG	0.602000													8	25					0	0	0.069234	0	0
VMO1	284013	broad.mit.edu	37	17	4688867	4688867	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:4688867G>A	ENST00000328739.5	-	3	478	c.399C>T	c.(397-399)ctC>ctT	p.L133L	VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000416307.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	133					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TGTTGTCACCGAGGGTCGTGG	0.642000													6	23					0	0	0.021553	0	0
ADAM32	203102	broad.mit.edu	37	8	39022696	39022696	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:39022696G>A	ENST00000379907.4	+	9	941	c.814G>A	c.(814-816)Gat>Aat	p.D272N	ADAM32_ENST00000519315.1_Missense_Mutation_p.D272N|ADAM32_ENST00000437682.2_Missense_Mutation_p.D279N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	272	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGGCCTCATGATATTGCATA	0.289000													5	27					0	0	0.014758	0	0
LMO4	8543	broad.mit.edu	37	1	87805751	87805751	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:87805751C>T	ENST00000370544.5	+	4	1135	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Missense_Mutation_p.R119W	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	119	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		CTCTACCTGCCGGAATCGCCT	0.393000													28	113					0	0	0.050027	0	0
SMAD1	4086	broad.mit.edu	37	4	146467854	146467854	+	Splice_Site	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:146467854G>A	ENST00000515385.1	+	5	1317		c.e5-1		SMAD1_ENST00000394092.2_Splice_Site|SMAD1_ENST00000302085.4_Splice_Site			Q15797	SMAD1_HUMAN	SMAD family member 1						BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.?(2)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CTTTCCTCTAGATGTTCAGGC	0.448000													40	103					0	0	0.111260	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388584	46388584	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:46388584G>A	ENST00000302165.3	-	1	792	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGCCCTTCGCGCCCCCTCAGC	0.716000													6	16					0	0	0.029380	0	0
KCNK13	56659	broad.mit.edu	37	14	90650902	90650902	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:90650902A>G	ENST00000282146.4	+	2	1223	c.782A>G	c.(781-783)aAc>aGc	p.N261S		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	261						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGCTTTGCCAACTTCGTCTTC	0.493000													23	81					0	0	0.069288	0	0
TOR4A	54863	broad.mit.edu	37	9	140174030	140174030	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:140174030G>A	ENST00000357503.2	+	2	1085	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	297					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										CGCCATCTACGTGCTCCTCAG	0.716000													3	13					0	0	0.009096	0	0
PCDHA1	56147	broad.mit.edu	37	5	140165875	140165875	+	Splice_Site	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140165875A>G	ENST00000378133.3	+	1	0		c.e1-1		PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031410.1	NP_113598.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTTTTGCAATGGTGTTTT	0.483000													29	150					0	0	0.064281	0	0
BDH1	622	broad.mit.edu	37	3	197241274	197241274	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:197241274G>A	ENST00000392379.1	-	7	824	c.423C>T	c.(421-423)ctC>ctT	p.L141L	BDH1_ENST00000441275.1_Silent_p.L54L|BDH1_ENST00000392378.2_Silent_p.L141L|BDH1_ENST00000358186.2_Silent_p.L141L	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	141					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CATTGTTAACGAGGCCCCACA	0.587000													13	211					0	0	0.119110	0	0
RXRG	6258	broad.mit.edu	37	1	165398095	165398095	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:165398095G>C	ENST00000359842.5	-	2	460	c.158C>G	c.(157-159)cCa>cGa	p.P53R		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	53	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CAGAGTCCGTGGGGCACTCAC	0.617000													9	31					0	0	0.047766	0	0
NRF1	4899	broad.mit.edu	37	7	129367082	129367082	+	Splice_Site	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:129367082G>A	ENST00000393232.1	+	10	1342	c.1223_splice	c.e10-1	p.E409_splice	NRF1_ENST00000223190.4_Splice_Site_p.E409_splice|NRF1_ENST00000311967.2_Splice_Site_p.E409_splice|NRF1_ENST00000353868.4_Splice_Site_p.E343_splice|NRF1_ENST00000393231.3_Splice_Site_p.E409_splice|NRF1_ENST00000539636.1_Splice_Site_p.E248_splice|NRF1_ENST00000393230.2_Splice_Site_p.E409_splice	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	409	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.E409K(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TGCCCGCAGCGAAGCTGCCGC	0.577000													5	38					0	0	0.029380	0	0
LHX4	89884	broad.mit.edu	37	1	180240979	180240979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:180240979C>T	ENST00000263726.2	+	5	860	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	206						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						GGTTTGGTTTCAGAACAGAAG	0.607000													25	113					0	0	0.076483	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55239242	55239242	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:55239242C>T	ENST00000291860.1	+	4	539	c.521C>T	c.(520-522)gCg>gTg	p.A174V	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	174	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.A174V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCACGATGCGGGTTCCCAG	0.547000													62	41					0	0	0.139131	0	0
PLCB1	23236	broad.mit.edu	37	20	8719969	8719969	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr20:8719969T>C	ENST00000378641.3	+	21	2745	c.2270T>C	c.(2269-2271)aTt>aCt	p.I757T	PLCB1_ENST00000338037.6_Missense_Mutation_p.I757T|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.I757T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	757	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGTAAATTCATTGGCCACCGT	0.418000													13	69					0	0	0.105934	0	0
NPHP4	261734	broad.mit.edu	37	1	5935081	5935081	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:5935081C>A	ENST00000378156.4	-	21	3162	c.2897G>T	c.(2896-2898)aGc>aTc	p.S966I	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	966					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCGATGCTCTCGGCCTT	0.642000													4	27					1.23904e-05	1.26657e-05	0.014758	1	0
ZNF324B	388569	broad.mit.edu	37	19	58967762	58967762	+	Missense_Mutation	SNP	C	C	T	rs143809080		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:58967762C>T	ENST00000391696.1	+	3	2353	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	ZNF324B_ENST00000336614.4_Missense_Mutation_p.T484M|ZNF324B_ENST00000545523.1_Missense_Mutation_p.T484M			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCGTGTGCACGCAGTGTGGC	0.672000													11	62					0	0	0.080935	0	0
PKN2	5586	broad.mit.edu	37	1	89279371	89279371	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:89279371T>C	ENST00000370521.3	+	16	2593	c.2234T>C	c.(2233-2235)cTa>cCa	p.L745P	PKN2_ENST00000370505.3_Missense_Mutation_p.L588P|PKN2_ENST00000370513.5_Missense_Mutation_p.L697P|PKN2_ENST00000544045.1_Missense_Mutation_p.L419P	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	745	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGTGGGGACCTAATGATGCAC	0.408000													3	176					0	0	0.009096	0	0
SERPINI1	5274	broad.mit.edu	37	3	167543055	167543055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:167543055C>T	ENST00000295777.5	+	9	1608	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.R393*|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	393					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ATTCATGGGACGAGTCATGCA	0.318000													44	516					0	0	0.139131	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782613	140782613	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140782613C>T	ENST00000573521.1	+	1	94	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCAGATTCGCTACTCAGT	0.602000													14	69					0	0	0.119110	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456922	110456922	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:110456922A>T	ENST00000378402.5	+	38	4928	c.4824A>T	c.(4822-4824)gaA>gaT	p.E1608D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1608	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTCGTAGAAGAAAGTAGTG	0.358000										HNSCC(38;0.096)			81	210					0	0	0.139131	0	0
XRN1	54464	broad.mit.edu	37	3	142137436	142137436	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:142137436T>C	ENST00000264951.4	-	12	1373	c.1256A>G	c.(1255-1257)gAg>gGg	p.E419G	XRN1_ENST00000463916.1_Missense_Mutation_p.E419G|XRN1_ENST00000392981.2_Missense_Mutation_p.E419G|XRN1_ENST00000544157.1_Missense_Mutation_p.E209G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	419					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATCTTCAGTCTCATCTTCTAA	0.333000													7	32					0	0	0.038147	0	0
C9orf135	138255	broad.mit.edu	37	9	72521027	72521027	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:72521027C>T	ENST00000377197.3	+	6	752	c.665C>T	c.(664-666)aCt>aTt	p.T222I	C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	222						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TATCCCTTGACTAGTGGGCCT	0.338000													12	64					0	0	0.093190	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166024	193166024	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:193166024G>C	ENST00000342695.4	-	18	2445	c.2123C>G	c.(2122-2124)tCa>tGa	p.S708*	ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.S689*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	708					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TATCCGGGCTGAGATGAGCTC	0.408000													12	176					0	0	0.093190	0	0
MFN1	55669	broad.mit.edu	37	3	179069808	179069808	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:179069808T>C	ENST00000471841.1	+	3	359	c.233T>C	c.(232-234)gTg>gCg	p.V78A	MFN1_ENST00000280653.7_Missense_Mutation_p.V78A|MFN1_ENST00000263969.5_Missense_Mutation_p.V78A	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	78					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)			CACATGAAGGTGGCATTTTTT	0.378000													67	368					0	0	0.139131	0	0
VSX2	338917	broad.mit.edu	37	14	74726405	74726405	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:74726405G>A	ENST00000261980.2	+	4	770	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	227	CVC.		R -> W (in MCOP2).		multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GCCATGGTGCGGCACTCCATC	0.637000													12	56					0	0	0.080935	0	0
MFN2	9927	broad.mit.edu	37	1	12056346	12056346	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:12056346G>A	ENST00000235329.5	+	5	767	c.445G>A	c.(445-447)Gag>Aag	p.E149K	MFN2_ENST00000444836.1_Missense_Mutation_p.E149K	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	149					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCTCCTTACCGAGGGCTCAGA	0.602000													6	44					0	0	0.021553	0	0
FAM86B3P	286042	broad.mit.edu	37	8	8095858	8095858	+	RNA	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:8095858G>A	ENST00000523017.1	-	0	608																											CCATGGACCCGTCTCTGTCCC	0.602000													7	35					0	0	0.047766	0	0
STK36	27148	broad.mit.edu	37	2	219559301	219559301	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:219559301C>T	ENST00000295709.3	+	21	2733	c.2454C>T	c.(2452-2454)gaC>gaT	p.D818D	STK36_ENST00000440309.1_Silent_p.D818D|STK36_ENST00000392105.3_Silent_p.D818D|STK36_ENST00000392106.2_Silent_p.D818D	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	818					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGACCTTTGACCTCCAGCCCA	0.552000													20	84					0	0	0.055883	0	0
ABCA4	24	broad.mit.edu	37	1	94505666	94505666	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:94505666C>T	ENST00000370225.3	-	24	3626	c.3540G>A	c.(3538-3540)tcG>tcA	p.S1180S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1180					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AACCCTTAGACGAGCAGCTGC	0.572000											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	0.021553	0	0
KMT2D	8085	broad.mit.edu	37	12	49448693	49448693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:49448693G>A	ENST00000301067.7	-	2	165	c.166C>T	c.(166-168)Cag>Tag	p.Q56*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTGCAGTCCTGAGGAGTCTCC	0.522000													40	139					0	0	0.104719	0	0
SMARCD1	6602	broad.mit.edu	37	12	50480110	50480110	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:50480110C>T	ENST00000394963.4	+	2	742	c.344C>T	c.(343-345)gCg>gTg	p.A115V	SMARCD1_ENST00000381513.4_Missense_Mutation_p.A115V	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	115	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CAGCAGCAGGCGGTCCAAAAT	0.617000													7	24					0	0	0.029380	0	0
OR5L2	26338	broad.mit.edu	37	11	55594821	55594821	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:55594821C>T	ENST00000378397.1	+	1	127	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	43					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)				GTTAGCCAATCTGGGCATGAC	0.498000										HNSCC(27;0.073)			63	247					0	0	0.139131	0	0
MAK	4117	broad.mit.edu	37	6	10770373	10770373	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:10770373T>C	ENST00000313243.2	-	13	2070	c.1688A>G	c.(1687-1689)cAc>cGc	p.H563R	MAK_ENST00000354489.2_Missense_Mutation_p.H563R|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.H563R|MAK_ENST00000538030.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	563					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGGTGCTAAGTGGATCCTCTG	0.398000													17	90					0	0	0.043863	0	0
CCDC64	92558	broad.mit.edu	37	12	120510422	120510422	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:120510422C>T	ENST00000397558.2	+	6	1197	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Silent_p.D48D	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	399					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCCATGGACGAGTCTTCAG	0.572000													13	50					0	0	0.119110	0	0
SCUBE1	80274	broad.mit.edu	37	22	43610219	43610219	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:43610219C>T	ENST00000360835.3	-	16	2056	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	644					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACACACTGGCCGAGCTCACCA	0.642000													3	48					0	0	0.009096	0	0
LRP1B	53353	broad.mit.edu	37	2	140992403	140992403	+	Silent	SNP	C	C	T	rs149169898	byFrequency	TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:140992403C>T	ENST00000389484.3	-	90	14582	c.13611G>A	c.(13609-13611)gcG>gcA	p.A4537A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4537					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		agatgggcggcgctgtgtgtg	0.428000										TSP Lung(27;0.18)			7	46					0	0	0.047766	0	0
PLCE1	51196	broad.mit.edu	37	10	95790868	95790868	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:95790868C>T	ENST00000260766.3	+	2	699	c.65C>T	c.(64-66)gCc>gTc	p.A22V	PLCE1_ENST00000371380.2_Missense_Mutation_p.A22V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	22					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGGTTTCTGCCCAGTCGGCT	0.423000													3	51					0	0	0.009096	0	0
WDR44	54521	broad.mit.edu	37	X	117527109	117527109	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:117527109C>T	ENST00000254029.3	+	4	1096	c.701C>T	c.(700-702)gCa>gTa	p.A234V	WDR44_ENST00000371822.5_Missense_Mutation_p.A209V|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.A234V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	234	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTGTTCCAGCACGCCCACCT	0.517000													80	68					0	0	0.139131	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29966459	29966459	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:29966459G>A	ENST00000216121.7	-	2	415	c.161C>T	c.(160-162)cCc>cTc	p.P54L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	54								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						ATCCTTCCGGGGATCCACTTT	0.542000													5	24					0	0	0.014758	0	0
OBSCN	84033	broad.mit.edu	37	1	228476582	228476582	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:228476582C>T	ENST00000570156.2	+	43	11693	c.11619C>T	c.(11617-11619)acC>acT	p.T3873T	OBSCN_ENST00000359599.6_Silent_p.T2291T|OBSCN_ENST00000284548.11_Silent_p.T3444T|OBSCN_ENST00000366707.4_Silent_p.T563T|OBSCN_ENST00000422127.1_Silent_p.T3444T|OBSCN_ENST00000366709.4_Silent_p.T563T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2910	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACTCTCACCGTGAAGGGTA	0.612000													9	43					0	0	0.069234	0	0
ABCC3	8714	broad.mit.edu	37	17	48750428	48750428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:48750428G>A	ENST00000285238.8	+	18	2418	c.2338G>A	c.(2338-2340)Gcg>Acg	p.A780T		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	780	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCACTGTCCGCGGTGGACTC	0.602000													13	46					0	0	0.105934	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291				SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA																							AGTTCCAGGATATGACTATAA	0.264000													3	34					0	0	0.115264	0	0
CTNNA1	1495	broad.mit.edu	37	5	138145823	138145823	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:138145823C>G	ENST00000302763.7	+	4	488	c.398C>G	c.(397-399)tCt>tGt	p.S133C	CTNNA1_ENST00000518825.1_Missense_Mutation_p.S133C|CTNNA1_ENST00000355078.5_Missense_Mutation_p.S30C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	133	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTTTGCTCTCTGCTGTTACC	0.478000													28	62					0	0	0.134883	0	0
USH1C	10083	broad.mit.edu	37	11	17548829	17548829	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:17548829G>A	ENST00000005226.7	-	5	436	c.437C>T	c.(436-438)aCc>aTc	p.T146I	USH1C_ENST00000527720.1_Missense_Mutation_p.T115I|USH1C_ENST00000527020.1_Missense_Mutation_p.T146I|USH1C_ENST00000318024.4_Missense_Mutation_p.T146I	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	146	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCCTCATGGGTACAGGAGGA	0.547000													13	68					0	0	0.132662	0	0
TTN	7273	broad.mit.edu	37	2	179604387	179604387	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:179604387C>T	ENST00000589042.1	-	48	13797	c.13573G>A	c.(13573-13575)Gaa>Aaa	p.E4525K	TTN_ENST00000460472.2_Missense_Mutation_p.E4162K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4208K|TTN_ENST00000342175.6_Missense_Mutation_p.E4354K|TTN_ENST00000359218.5_Missense_Mutation_p.E4287K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4208	Ig-like 25.			K -> R (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTAGATTCAACTTCTGGT	0.398000													29	99					0	0	0.108266	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370392	101370392	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:101370392C>A	ENST00000312938.4	-	11	3360	c.2780G>T	c.(2779-2781)cGa>cTa	p.R927L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	927					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACGGAGTGTTCGAGCATCTAT	0.448000													28	114					4.59853e-10	4.78039e-10	0.108266	1	0
FARS2	10667	broad.mit.edu	37	6	5369231	5369231	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:5369231A>G	ENST00000324331.6	+	2	764	c.428A>G	c.(427-429)aAc>aGc	p.N143S	FARS2_ENST00000274680.4_Missense_Mutation_p.N143S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	143					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AAGGGGGACAACTATTACCTG	0.567000													10	74					0	0	0.069234	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376707	138376707	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:138376707C>T	ENST00000356818.2	+	4	900	c.351C>T	c.(349-351)ggC>ggT	p.G117G	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.G117G|PPP1R26_ENST00000605286.1_Silent_p.G117G|PPP1R26_ENST00000604351.1_Silent_p.G117G|PPP1R26_ENST00000401470.3_Silent_p.G117G	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	117						nucleolus	protein binding										CAGACTTTGGCCCGTTGGTGC	0.587000													4	111					0	0	0.021553	0	0
RREB1	6239	broad.mit.edu	37	6	7229769	7229769	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:7229769G>A	ENST00000379938.2	+	10	1974	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	RREB1_ENST00000349384.6_Silent_p.S479S|RREB1_ENST00000334984.6_Silent_p.S479S|RREB1_ENST00000379933.3_Silent_p.S479S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	479					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)				TGGCAGCCTCGGCTCCCCCTC	0.607000													26	208					0	0	0.108266	0	0
CEP55	55165	broad.mit.edu	37	10	95276830	95276830	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:95276830A>T	ENST00000371485.3	+	6	1122	c.818A>T	c.(817-819)cAa>cTa	p.Q273L		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	273					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAAGAAACCCAAAAAGAAGTT	0.358000													10	54					0	0	0.069234	0	0
MLN	4295	broad.mit.edu	37	6	33768873	33768873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:33768873G>A	ENST00000430124.2	-	2	133	c.68C>T	c.(67-69)aCg>aTg	p.T23M	MLN_ENST00000507738.1_Missense_Mutation_p.T23M|MLN_ENST00000266003.5_Missense_Mutation_p.T23M	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	23					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						GAAGGCTTCCGTCTGGGAGGC	0.577000													18	102					0	0	0.033300	0	0
PRDM15	63977	broad.mit.edu	37	21	43221624	43221624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:43221624C>A	ENST00000422911.1	-	25	3474	c.3373G>T	c.(3373-3375)Gaa>Taa	p.E1125*	PRDM15_ENST00000538201.1_Nonsense_Mutation_p.E1088*|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.E1068*|PRDM15_ENST00000269844.3_Nonsense_Mutation_p.E1434*|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.E1105*			P57071	PRD15_HUMAN	PR domain containing 15	1434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCGAGGCTTCCGGCTGGGGG	0.587000													12	53					2.32078e-09	2.39901e-09	0.132662	1	0
SLC44A1	23446	broad.mit.edu	37	9	108151336	108151336	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:108151336G>C	ENST00000374720.3	+	16	2220	c.1973G>C	c.(1972-1974)tGa>tCa	p.*658S	SLC44A1_ENST00000343170.7_Intron|SLC44A1_ENST00000374724.1_Intron|SLC44A1_ENST00000374723.1_Intron	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	0						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGTTCTGCTTGAACCTAGCCG	0.343000													33	149					0	0	0.074837	0	0
ZNF320	162967	broad.mit.edu	37	19	53384034	53384034	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:53384034C>T	ENST00000595635.1	-	8	1846	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.A449T|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	449					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)		GAATTAAAGGCTTTACCACAA	0.403000													6	65					0	0	0.029380	0	0
NFAT5	10725	broad.mit.edu	37	16	69703948	69703948	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:69703948G>A	ENST00000349945.1	+	9	2708	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	NFAT5_ENST00000393742.2_Missense_Mutation_p.E386K|NFAT5_ENST00000567239.1_Missense_Mutation_p.E480K|NFAT5_ENST00000566899.1_Missense_Mutation_p.E386K|NFAT5_ENST00000354436.2_Missense_Mutation_p.E462K|NFAT5_ENST00000432919.1_Missense_Mutation_p.E480K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	462	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGAGAAGAAGAAGTGTTTTT	0.363000													8	38					0	0	0.047766	0	0
GRIA1	2890	broad.mit.edu	37	5	153149822	153149822	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:153149822G>A	ENST00000285900.5	+	13	2460	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	GRIA1_ENST00000518783.1_Missense_Mutation_p.R716Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R716Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R637Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R706Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R626Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	706					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGATGATTCGAGTGAGGAAA	0.483000													14	47					0	0	0.119110	0	0
TMEM50B	757	broad.mit.edu	37	21	34823152	34823152	+	Silent	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:34823152A>G	ENST00000542230.2	-	7	664	c.450T>C	c.(448-450)ttT>ttC	p.F150F		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	150						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CGGTTCTTCCAAATTTGTAGA	0.348000													13	40					0	0	0.146539	0	0
GJB5	2709	broad.mit.edu	37	1	35223201	35223201	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:35223201C>T	ENST00000338513.1	+	2	443	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	90					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCTCACTGCTCGTGGTCATGC	0.617000													17	69					0	0	0.055883	0	0
COL6A3	1293	broad.mit.edu	37	2	238277502	238277502	+	Missense_Mutation	SNP	C	C	T	rs115765346	by1000genomes	TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:238277502C>T	ENST00000295550.4	-	10	5056	c.4604G>A	c.(4603-4605)cGc>cAc	p.R1535H	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1535	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1535H(1)		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)		GTCTTCTATGCGACTCCCCGC	0.592000													11	65					0	0	0.080935	0	0
KMT2D	8085	broad.mit.edu	37	12	49438595	49438595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:49438595G>C	ENST00000301067.7	-	19	4894	c.4895C>G	c.(4894-4896)tCa>tGa	p.S1632*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AAGGGCATCTGAGGGCTCAGA	0.607000													17	58					0	0	0.146539	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17140215	17140215	+	Silent	SNP	G	G	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:17140215G>T	ENST00000265970.7	-	17	3011	c.3012C>A	c.(3010-3012)atC>atA	p.I1004I	PIK3C2A_ENST00000540361.1_Silent_p.I624I|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1004					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTGCTATCTGGATATTTCCCA	0.289000													29	120					7.01153e-11	7.33024e-11	0.125774	1	0
PEG3	5178	broad.mit.edu	37	19	57328787	57328787	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:57328787G>C	ENST00000326441.9	-	10	1386	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F341L|PEG3_ENST00000593695.1_Missense_Mutation_p.F215L|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.F217L|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	341					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACATTCTGGGGAATCTCTGTG	0.473000													12	83					0	0	0.093190	0	0
NBAS	51594	broad.mit.edu	37	2	15415898	15415898	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:15415898C>G	ENST00000281513.5	-	44	5459	c.5434G>C	c.(5434-5436)Gaa>Caa	p.E1812Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E1692Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1812										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCCAATGCTTCAAGAGGACTC	0.373000													11	76					0	0	0.069234	0	0
OR6M1	390261	broad.mit.edu	37	11	123676380	123676380	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:123676380G>A	ENST00000309154.2	-	1	715	c.678C>T	c.(676-678)ccC>ccT	p.P226P		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCTGGGTGGAGGGGATACGCA	0.498000													5	21					0	0	0.014758	0	0
C3orf30	152405	broad.mit.edu	37	3	118865322	118865322	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:118865322G>A	ENST00000295622.1	+	1	326	c.286G>A	c.(286-288)Gat>Aat	p.D96N		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	96										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAACCCTGCTGATGTTTCTGA	0.473000													5	31					0	0	0.014758	0	0
ITIH2	3698	broad.mit.edu	37	10	7774362	7774362	+	Missense_Mutation	SNP	C	C	T	rs150529114		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:7774362C>T	ENST00000358415.4	+	14	1875	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	ITIH2_ENST00000379587.4_Missense_Mutation_p.S559L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	570					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S570L(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTTCTATCGAAAGACAAG	0.488000													4	27					0	0	0.014758	0	0
MC2R	4158	broad.mit.edu	37	18	13884716	13884716	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:13884716T>A	ENST00000327606.3	-	2	982	c.802A>T	c.(802-804)Aat>Tat	p.N268Y		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	268					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATGACGGCATTGCACATGATC	0.502000													23	69					0	0	0.091800	0	0
CHAF1A	10036	broad.mit.edu	37	19	4431980	4431980	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:4431980G>A	ENST00000301280.5	+	12	2080	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	660	Binds to p60.|Necessary for homodimerization and competence for chromatin assembly.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATAAGGTCCGCCAGAAACTG	0.562000								Chromatin Structure					4	112					0	0	0.009096	0	0
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
MAP3K13	9175	broad.mit.edu	37	3	185190964	185190964	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:185190964delA	ENST00000265026.3	+	11	2179	c.1845delA	c.(1843-1845)tcfs	p.S615fs	MAP3K13_ENST00000443863.1_Frame_Shift_Del_p.S471fs|MAP3K13_ENST00000424227.1_Frame_Shift_Del_p.S615fs|MAP3K13_ENST00000535426.1_Frame_Shift_Del_p.S471fs|MAP3K13_ENST00000446828.1_Frame_Shift_Del_p.S408fs	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	615					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGGAAAATTCACCCCATCCCA	0.532													7	1226	---	---	---	---					
MB21D2	151963	broad.mit.edu	37	3	192517004	192517004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:192517004delT	ENST00000392452.2	-	2	967	c.647delA	c.(646-648)atfs	p.N216fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	216								p.N214fs*11(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATGGTCCCATTTTTTTCCAC	0.463													8	382	---	---	---	---					
C6orf89	221477	broad.mit.edu	37	6	36882411	36882411	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:36882411delT	ENST00000480824.2	+	6	931	c.637delT	c.(637-639)ttfs	p.F214fs	C6orf89_ENST00000373685.1_Frame_Shift_Del_p.F214fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.F221fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.F108fs|C6orf89_ENST00000359359.2_Frame_Shift_Del_p.F108fs			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	214						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CTCTGAAGGGTTTTTCGCCAA	0.542													7	326	---	---	---	---					
MDN1	23195	broad.mit.edu	37	6	90426527	90426528	+	Splice_Site	DEL	CT	CT	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:90426527_90426528delCT	ENST00000369393.3	-	44	6699_6700	c.6583_splice	c.e44-1	p.E2195_splice	MDN1_ENST00000428876.1_Splice_Site_p.E2195_splice			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2195					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTGGCAAACTCTGAAATGTC	0.421													13	59	---	---	---	---					
INTS4P1	285905	broad.mit.edu	37	7	64673010	64673011	+	RNA	INS	-	-	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:64673010_64673011insT	ENST00000587624.1	+	0	1437																											GAATCATAGGATTTTCCTCTTG	0.480													10	36	---	---	---	---					
ARHGAP20	57569	broad.mit.edu	37	11	110450902	110450902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:110450902delA	ENST00000260283.4	-	16	3052	c.2768delT	c.(2767-2769)tafs	p.L923fs	ARHGAP20_ENST00000527598.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000357139.3_Frame_Shift_Del_p.L897fs|ARHGAP20_ENST00000528829.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000533353.1_Frame_Shift_Del_p.L897fs|ARHGAP20_ENST00000529591.1_Frame_Shift_Del_p.L466fs|ARHGAP20_ENST00000524756.1_Frame_Shift_Del_p.L900fs	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	923					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTTGGGGGTAAAACCTTCTC	0.493													30	104	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:61388270_61388271delAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386													2	4	---	---	---	---