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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
SGOL2	151246	broad.mit.edu	37	2	201438010	201438030	+	In_Frame_Del	DEL	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	-	-	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:201438010_201438030delAAAGTAGTTAAAAAACGTAAG	ENST00000357799.4	+	7	3039_3059	c.2941_2961delAAAGTAGTTAAAAAACGTAAG	c.(2941-2961)aaagtagttaaaaaacgtaagdel	p.KVVKKRK981del		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	981					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.V982E(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGATTCCTACAAAGTAGTTAAAAAACGTAAGAAAGAATCAT	0.308		NA											False	1	True	2:201438010	0
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483		NA											False	1	True	2:233708804	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
BTN2A1	11120	broad.mit.edu	37	6	26458905	26458906	+	In_Frame_Ins	INS	-	-	CTTCCTCCT	rs140375890	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:26458905_26458906insCTTCCTCCT	ENST00000429381.1	+	2	253_254	c.41_42insCTTCCTCCT	c.(40-45)tccctc>tcCTTCCTCCTcctc	p.14_15SL>SFLLL	BTN2A1_ENST00000469185.1_In_Frame_Ins_p.14_15SL>SFLLL|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000312541.5_In_Frame_Ins_p.14_15SL>SFLLL			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	14					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CGGCCAGCCTCCCTCCTCCTCC	0.584		NA											False	0	True	6:26458905	0
C7orf55-LUC7L2	0	broad.mit.edu	37	7	139102397	139102408	+	In_Frame_Del	DEL	GCAGCCGTAGCC	GCAGCCGTAGCC	-			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	GCAGCCGTAGCC	GCAGCCGTAGCC	-	-	GCAGCCGTAGCC	GCAGCCGTAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:139102397_139102408delGCAGCCGTAGCC	ENST00000354926.4	+	9	1277_1288	c.923_934delGCAGCCGTAGCC	c.(922-936)agcagccgtagccgc>agc	p.SRSR309del	C7orf55-LUC7L2_ENST00000541170.3_In_Frame_Del_p.SRSR306del|C7orf55-LUC7L2_ENST00000263545.6_In_Frame_Del_p.SRSR308del|LUC7L2_ENST00000541515.3_In_Frame_Del_p.SRSR375del|C7orf55-LUC7L2_ENST00000482860.1_3'UTR	NM_016019.3	NP_057103.2				NA											NA						TCCCGCTCCAGCAGCCGTAGCCGCAGCCGTAG	0.547		NA											False	1	False	7:139102397	0
PARP10	84875	broad.mit.edu	37	8	145059772	145059798	+	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	rs146902781	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	-	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENST00000524918.1	-	4	541_567	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg	p.EQAQNLGLE152del	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del|PARP10_ENST00000313028.7_In_Frame_Del_p.EQAQNLGLE152del			Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	152						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGGTCCCCTCCAGGCCCAGATTCTGGGCCTGCTCCTCCAGGAC	0.648		NA											False	1	False	8:145059772	0
XRRA1	143570	broad.mit.edu	37	11	74559225	74559225	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:74559225G>A	ENST00000340360.6	-	15	1970	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	547					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGGCTGAGGCGGACAGTTGTG	0.592		NA											False	0	False	11:74559225	0
SLC38A8	146167	broad.mit.edu	37	16	84056458	84056458	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84056458G>A	ENST00000299709.3	-	6	726	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	243					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCGTTTGCGCATGCTGCAG	0.597		NA											False	0	False	16:84056458	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
HERC1	8925	broad.mit.edu	37	15	63908760	63908760	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:63908760C>A	ENST00000443617.2	-	75	13897	c.13810G>T	c.(13810-13812)Gtg>Ttg	p.V4604L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4604	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCTTCCACACCAGAGGGGCC	0.502		NA											False	0	False	15:63908760	0
POLR3E	55718	broad.mit.edu	37	16	22330215	22330215	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:22330215C>T	ENST00000299853.5	+	13	1101	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	POLR3E_ENST00000418581.2_Missense_Mutation_p.R276W|POLR3E_ENST00000359210.4_Missense_Mutation_p.R312W|POLR3E_ENST00000564209.1_Missense_Mutation_p.R312W	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	312					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GGCTGTTCTGCGGGGCATCCA	0.478		NA											False	0	True	16:22330215	0
ST18	9705	broad.mit.edu	37	8	53045690	53045690	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:53045690C>T	ENST00000276480.7	-	21	3054	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	791						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGAGGGCATCCGGACAAGCTG	0.463		NA											False	0	False	8:53045690	0
ATG10	83734	broad.mit.edu	37	5	81474399	81474399	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:81474399C>T	ENST00000282185.3	+	5	740	c.446C>T	c.(445-447)aCg>aTg	p.T149M	ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	149					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GACACTATTACGCAACAGGTT	0.433		NA											False	0	False	5:81474399	0
ASH1L	55870	broad.mit.edu	37	1	155449582	155449582	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:155449582C>T	ENST00000368346.3	-	3	3718	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1027					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCAAATGTGGCAGCAAGACTT	0.368		NA											False	0	False	1:155449582	0
EPB41	2035	broad.mit.edu	37	1	29314224	29314224	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:29314224C>A	ENST00000343067.4	+	2	402	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	92					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGGCCCAAATCTCAGGTGTCC	0.443		NA											False	0	False	1:29314224	0
SMAD4	4089	broad.mit.edu	37	18	48575093	48575093	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:48575093C>A	ENST00000342988.3	+	3	825	c.287C>A	c.(286-288)gCc>gAc	p.A96D	SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D|SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	96	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTGATCTATGCCCGTCTCTGG	0.368		NA											False	0	True	18:48575093	0
CSMD1	64478	broad.mit.edu	37	8	2857619	2857619	+	Silent	SNP	G	G	A	rs141445155	by1000genomes	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:2857619G>A	ENST00000520002.1	-	54	8622	c.8067C>T	c.(8065-8067)aaC>aaT	p.N2689N	CSMD1_ENST00000537824.1_Silent_p.N2688N|CSMD1_ENST00000400186.3_Silent_p.N2631N|CSMD1_ENST00000602723.1_Silent_p.N2631N|CSMD1_ENST00000602557.1_Silent_p.N2689N|CSMD1_ENST00000542608.1_Silent_p.N2630N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2689	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAATGTGACCGTTCACAATCG	0.443		NA											False	0	False	8:2857619	0
ZNF569	148266	broad.mit.edu	37	19	37905084	37905084	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:37905084A>T	ENST00000316950.6	-	6	1033	c.476T>A	c.(475-477)cTt>cAt	p.L159H	ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTCTCATAAGGCATTTCAC	0.333		NA											False	0	False	19:37905084	0
NOTCH4	4855	broad.mit.edu	37	6	32171920	32171920	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:32171920G>C	ENST00000375023.3	-	19	3250	c.3112C>G	c.(3112-3114)Cac>Gac	p.H1038D		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1038	EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCACCTGTGTGTCCAGGCAGA	0.622		NA											False	0	True	6:32171920	0
INPP4A	3631	broad.mit.edu	37	2	99163121	99163121	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:99163121G>A	ENST00000409016.4	+	13	1524	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	INPP4A_ENST00000523221.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R376H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	NA					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGGTCTCCGCAAAAAGCTG	0.458		NA											False	0	False	2:99163121	0
MYO18B	84700	broad.mit.edu	37	22	26173733	26173733	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173733G>C	ENST00000335473.7	+	8	2303	c.2053G>C	c.(2053-2055)Gat>Cat	p.D685H	MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H|MYO18B_ENST00000407587.2_Missense_Mutation_p.D685H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	685	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCAGTGTGGATGGCAGGGT	0.587		NA											False	0	False	22:26173733	0
OR13F1	138805	broad.mit.edu	37	9	107267379	107267379	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:107267379C>T	ENST00000334726.2	+	1	925	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGGTGTATGCCGGACAAACC	0.418		NA											False	0	False	9:107267379	0
CABIN1	23523	broad.mit.edu	37	22	24447387	24447387	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:24447387C>T	ENST00000398319.2	+	8	1142	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W|CABIN1_ENST00000405822.2_Intron	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	253					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGATTGTGCGGGAGAAGGA	0.552		NA											False	0	True	22:24447387	0
DIAPH1	1729	broad.mit.edu	37	5	140963181	140963181	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140963181C>T	ENST00000253811.6	-	5	544	c.404G>A	c.(403-405)gGc>gAc	p.G135D	DIAPH1_ENST00000398566.3_Splice_Site_p.G126D|DIAPH1_ENST00000518047.1_Splice_Site_p.G126D|DIAPH1_ENST00000389054.3_Splice_Site_p.G135D|DIAPH1_ENST00000389057.5_Splice_Site_p.G126D|DIAPH1_ENST00000398562.2_Splice_Site_p.G126D|DIAPH1_ENST00000520569.1_Splice_Site_p.G81D|DIAPH1_ENST00000398557.4_Splice_Site_p.G135D			O60610	DIAP1_HUMAN	diaphanous-related formin 1	135	GBD/FH3.				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)			CTGGCTCATGCCCTAGACAGA	0.423		NA											False	0	True	5:140963181	0
CGREF1	10669	broad.mit.edu	37	2	27327322	27327322	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:27327322C>A	ENST00000404694.3	-	1	283	c.279G>T	c.(277-279)ttG>ttT	p.L93F	CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000452318.2_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	0	EF-hand 1.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTAGACACAAGCGCATTT	0.547		NA											False	0	False	2:27327322	0
LRRC36	55282	broad.mit.edu	37	16	67397524	67397524	+	Silent	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67397524C>G	ENST00000329956.6	+	6	628	c.609C>G	c.(607-609)ccC>ccG	p.P203P	LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Silent_p.P82P|LRRC36_ENST00000435835.3_Silent_p.P82P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	203										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCCCTTCCCCAACCGGGAAA	0.428		NA											False	0	True	16:67397524	0
MYH1	4619	broad.mit.edu	37	17	10398336	10398336	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:10398336G>A	ENST00000226207.5	-	37	5472	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1793						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCCTTCACCGTCTGTTCCAG	0.557		NA											False	0	False	17:10398336	0
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:7578502A>T	ENST00000420246.2	-	5	560	c.428T>A	c.(427-429)gTg>gAg	p.V143E	TP53_ENST00000413465.2_Missense_Mutation_p.V143E|TP53_ENST00000269305.4_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E|TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000455263.2_Missense_Mutation_p.V143E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACAGCTGCACAGGGCAGGT	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578502	0
ZNF551	90233	broad.mit.edu	37	19	58199361	58199361	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:58199361G>T	ENST00000282296.5	+	3	1903	c.1718G>T	c.(1717-1719)aGc>aTc	p.S573I	ZNF551_ENST00000356715.4_Missense_Mutation_p.S557I|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAAAGTGCTAGCCTCATTCAA	0.458		NA											False	0	False	19:58199361	0
TUBGCP3	10426	broad.mit.edu	37	13	113140311	113140311	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:113140311G>A	ENST00000261965.3	-	22	2906	c.2720C>T	c.(2719-2721)aCg>aTg	p.T907M		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	907					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGAGCTTCACGTGTGGGAGCT	0.597		NA											False	0	False	13:113140311	0
CTSS	1520	broad.mit.edu	37	1	150722622	150722622	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:150722622T>G	ENST00000368985.3	-	6	913	c.653A>C	c.(652-654)aAa>aCa	p.K218T	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	218					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCACGATATTTTGAGTCATA	0.393		NA											False	0	True	1:150722622	0
ZNF280D	54816	broad.mit.edu	37	15	56958635	56958635	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:56958635T>C	ENST00000559237.1	-	15	2596	c.1913A>G	c.(1912-1914)tAc>tGc	p.Y638C	ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y651C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAGTGTTGTATCTGCAAAA	0.358		NA											False	0	False	15:56958635	0
PPIP5K1	9677	broad.mit.edu	37	15	43851071	43851071	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:43851071G>C	ENST00000420765.1	-	29	3489	c.3307C>G	c.(3307-3309)Ctt>Gtt	p.L1103V	PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1103					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CGTAGGGAAAGGGCATTATGC	0.478		NA											False	0	True	15:43851071	0
KCTD19	146212	broad.mit.edu	37	16	67333434	67333434	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67333434T>C	ENST00000304372.5	-	6	873	c.818A>G	c.(817-819)aAg>aGg	p.K273R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	273						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCGGGCCCCCTTCCCGGGGCT	0.642		NA											False	0	True	16:67333434	0
NELFB	25920	broad.mit.edu	37	9	140160826	140160826	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:140160826G>C	ENST00000343053.4	+	8	1380	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A		NM_015456.3	NP_056271.2			negative elongation factor complex member B	NA											NA						CTGGCGCTGGGCCAGGGAGCC	0.662		NA											False	0	True	9:140160826	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0
PDE1C	5137	broad.mit.edu	37	7	31864537	31864537	+	Silent	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:31864537C>A	ENST00000396184.3	-	14	1554	c.1350G>T	c.(1348-1350)gtG>gtT	p.V450V	PDE1C_ENST00000321453.7_Silent_p.V450V|PDE1C_ENST00000396182.2_Silent_p.V450V|PDE1C_ENST00000396193.1_Silent_p.V510V|PDE1C_ENST00000396191.1_Silent_p.V450V	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	450	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTAATGGACTCACAATCTTCT	0.507		NA											False	0	False	7:31864537	0
HYDIN	54768	broad.mit.edu	37	16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:70902514C>T	ENST00000393567.2	-	66	11419	c.11269G>A	c.(11269-11271)Gta>Ata	p.V3757I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3757										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527		NA											False	0	False	16:70902514	0
STAT1	6772	broad.mit.edu	37	2	191859901	191859901	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859901A>T	ENST00000361099.3	-	10	1217	c.830T>A	c.(829-831)cTt>cAt	p.L277H	STAT1_ENST00000409465.1_Missense_Mutation_p.L277H|STAT1_ENST00000392323.2_Missense_Mutation_p.L279H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.L277H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CAACTTTTTAAGCTGCTGCCG	0.458		NA											False	0	False	2:191859901	0
BCAS1	8537	broad.mit.edu	37	20	52570062	52570062	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:52570062G>A	ENST00000395961.3	-	11	1755	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M|BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	530						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CGTGTCCACCGTGGCCTGCTC	0.562		NA											False	0	False	20:52570062	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512		NA											False	0	False	7:144060770	0
HMGB2	3148	broad.mit.edu	37	4	174253329	174253329	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:174253329G>A	ENST00000296503.5	-	5	1405	c.532C>T	c.(532-534)Cca>Tca	p.P178S	HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S			P26583	HMGB2_HUMAN	high mobility group box 2	178					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GAGCCTGTTGGCCTGCCAGGG	0.433		NA											False	0	False	4:174253329	0
MYO18B	84700	broad.mit.edu	37	22	26173732	26173732	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173732G>A	ENST00000335473.7	+	8	2302	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V	MYO18B_ENST00000536101.1_Silent_p.V684V|MYO18B_ENST00000407587.2_Silent_p.V684V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	684	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGCAGTGTGGATGGCAGGG	0.592		NA											False	0	False	22:26173732	0
REXO1L1	254958	broad.mit.edu	37	8	86573803	86573803	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:86573803C>T	ENST00000379010.2	-	1	1923	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N		NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1	642						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						GCGCTTGCGTCCTCGCTGGAG	0.672		NA											False	0	False	8:86573803	0
HIST2H3D	653604	broad.mit.edu	37	1	149784858	149784858	+	Silent	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:149784858A>G	ENST00000331491.1	-	1	378	c.379T>C	c.(379-381)Ttg>Ctg	p.L127L		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	127					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGGCGGGCCAACTGGATGTCC	0.587		NA											False	0	False	1:149784858	0
ABCC8	6833	broad.mit.edu	37	11	17415843	17415843	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:17415843G>A	ENST00000302539.4	-	37	4643	c.4518C>T	c.(4516-4518)gaC>gaT	p.D1506D	ABCC8_ENST00000389817.3_Silent_p.D1505D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1505	ABC transporter 2.		E -> K (in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCGTGGCCTCGTCCATGATGA	0.577		NA											False	0	False	11:17415843	0
LRRC37A11P	0	broad.mit.edu	37	17	37188577	37188577	+	RNA	SNP	T	T	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:37188577T>G	ENST00000425901.2	+	0	2419					NR_033753.2					NA											NA						ACATATGTGATCTCTGTACCT	0.517		NA											False	0	False	17:37188577	0
STYK1	55359	broad.mit.edu	37	12	10772786	10772786	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:10772786C>T	ENST00000075503.3	-	11	1746	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	409						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTCTGATGCCGGCCACAGC	0.478		NA								HNSCC(73;0.22)			False	0	False	12:10772786	0
ZNF423	23090	broad.mit.edu	37	16	49672109	49672109	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:49672109G>A	ENST00000561648.1	-	4	1007	c.954C>T	c.(952-954)caC>caT	p.H318H	ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000535559.1_Silent_p.H201H|ZNF423_ENST00000567169.1_Silent_p.H201H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	318					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTGGTTGGCGTGGGCTTGGT	0.617		NA											False	0	False	16:49672109	0
DCC	1630	broad.mit.edu	37	18	50450207	50450207	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:50450207C>T	ENST00000442544.2	+	4	1444	c.828C>T	c.(826-828)ggC>ggT	p.G276G	DCC_ENST00000412726.1_Silent_p.G124G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	276	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTACGAGGCGAGGAAGTCA	0.373		NA											False	0	True	18:50450207	0
OR2G2	81470	broad.mit.edu	37	1	247751947	247751947	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:247751947G>A	ENST00000320065.1	+	1	286	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAACTATCGCCTATGGTGG	0.527		NA											False	0	False	1:247751947	0
GOLGA1	2800	broad.mit.edu	37	9	127651788	127651788	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:127651788C>T	ENST00000373555.4	-	17	1858	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	509	Gln-rich.					Golgi cisterna membrane		p.E509K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCCTTCTCGTCTATTATG	0.512		NA											False	0	False	9:127651788	0
ZXDB	158586	broad.mit.edu	37	X	57619818	57619818	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:57619818G>A	ENST00000374888.1	+	1	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	446	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ATTCACCTGCGGAGTCACACC	0.488		NA											False	0	False	X:57619818	0
WFIKKN2	124857	broad.mit.edu	37	17	48917431	48917431	+	Missense_Mutation	SNP	G	G	A	rs146708003		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:48917431G>A	ENST00000311378.4	+	2	1310	c.782G>A	c.(781-783)cGt>cAt	p.R261H	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	261	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AACCATGTGCGTGGCAACGTG	0.617		NA											False	0	False	17:48917431	0
PAX1	5075	broad.mit.edu	37	20	21687488	21687488	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:21687488G>A	ENST00000398485.2	+	2	753	c.699G>A	c.(697-699)ccG>ccA	p.P233P	PAX1_ENST00000444366.2_Silent_p.P209P|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	233					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCCCGGACCGTACGAGGCAA	0.642		NA											False	0	False	20:21687488	0
IGKV2D-30	0	broad.mit.edu	37	2	89976340	89976340	+	RNA	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:89976340C>T	ENST00000474213.1	+	0	246										NA											NA						ATCTCCAAGGCGCCTAATTTA	0.517		NA											False	0	False	2:89976340	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372765	74372765	+	RNA	SNP	T	T	C	rs2549261	by1000genomes	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:74372765T>C	ENST00000429810.2	-	0	1431										NA											NA						GAAGTCCCAGTGGGGAACCTT	0.502		NA											False	0	True	16:74372765	0
SRGAP1	57522	broad.mit.edu	37	12	64377799	64377799	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:64377799A>G	ENST00000355086.3	+	2	664	c.140A>G	c.(139-141)cAg>cGg	p.Q47R	SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	47	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGCTTCTCCAGGATCTGCAA	0.433		NA											False	0	False	12:64377799	0
OR52A4	0	broad.mit.edu	37	11	5142557	5142557	+	RNA	SNP	C	C	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:5142557C>A	ENST00000498233.1	-	0	841										NA										breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATCAAGCATCTTGGGCACAA	0.438		NA											False	0	False	11:5142557	0
SYT1	6857	broad.mit.edu	37	12	79679566	79679566	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:79679566G>A	ENST00000261205.4	+	5	823		c.e5-1		SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000552744.1_Splice_Site|SYT1_ENST00000457153.2_Splice_Site	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	NA					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GTTTCTTTCAGTGCCACCGTG	0.368		NA											False	0	False	12:79679566	0
BEND2	139105	broad.mit.edu	37	X	18192194	18192194	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:18192194C>G	ENST00000380033.4	-	12	2069	c.1937G>C	c.(1936-1938)cGa>cCa	p.R646P	BEND2_ENST00000380030.3_Missense_Mutation_p.R555P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	646										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGAAGGTTCTCGCATTCCTTC	0.383		NA											False	0	False	X:18192194	0
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522		NA											False	0	False	7:99913460	0
TADA2A	6871	broad.mit.edu	37	17	35830625	35830625	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:35830625G>A	ENST00000394395.2	+	13	1190	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TADA2A_ENST00000225396.6_Silent_p.R339R|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	339					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GGCTCCGCCGGCAAGCTGACA	0.507		NA											False	0	False	17:35830625	0
GHRL	51738	broad.mit.edu	37	3	10331548	10331548	+	Silent	SNP	C	C	T	rs146899970	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:10331548C>T	ENST00000335542.8	-	4	993	c.123G>A	c.(121-123)tcG>tcA	p.S41S	GHRL_ENST00000429122.1_Silent_p.S41S|GHRL_ENST00000457360.1_Silent_p.S41S|GHRL_ENST00000449238.2_Silent_p.S28S|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000437422.2_Silent_p.S29S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000430179.1_Silent_p.S40S|GHRL_ENST00000449554.2_Silent_p.S40S|GHRLOS_ENST00000605014.1_RNA			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	41					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						GTGGCTTCTTCGACTCCTTTC	0.572		NA											False	0	False	3:10331548	0
ABCC9	10060	broad.mit.edu	37	12	22063212	22063212	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:22063212G>A	ENST00000261200.4	-	8	1198	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	ABCC9_ENST00000261201.4_Missense_Mutation_p.T400M|ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	400	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAGTTAGACGTAGAGAGCCT	0.348		NA											False	0	False	12:22063212	0
STAT1	6772	broad.mit.edu	37	2	191859900	191859900	+	Silent	SNP	A	A	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859900A>T	ENST00000361099.3	-	10	1218	c.831T>A	c.(829-831)ctT>ctA	p.L277L	STAT1_ENST00000409465.1_Silent_p.L277L|STAT1_ENST00000392323.2_Silent_p.L279L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Silent_p.L277L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CCAACTTTTTAAGCTGCTGCC	0.458		NA											False	0	True	2:191859900	0
AQP7	364	broad.mit.edu	37	9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K			O14520	AQP7_HUMAN	aquaporin 7	175					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACTGACCTCATTCAGGAAG	0.592		NA											False	0	False	9:33386077	0
USP26	83844	broad.mit.edu	37	X	132159668	132159668	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:132159668G>A	ENST00000511190.1	-	6	3050	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	USP26_ENST00000370832.1_Missense_Mutation_p.R861W|USP26_ENST00000406273.1_Missense_Mutation_p.R861W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	861					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCTAACACCCGCATATCATCG	0.438		NA											False	0	True	X:132159668	0
IDH2	3418	broad.mit.edu	37	15	90630770	90630770	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:90630770G>A	ENST00000330062.3	-	6	829	c.716C>T	c.(715-717)gCc>gTc	p.A239V	IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V|IDH2_ENST00000559482.1_Missense_Mutation_p.A130V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	239					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CTTCTGGATGGCATACTGGAA	0.562		NA	M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:90630770	0
T	6862	broad.mit.edu	37	6	166572035	166572035	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:166572035G>A	ENST00000296946.2	-	9	1544	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	T_ENST00000366871.3_Missense_Mutation_p.T301I	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	359					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAGCCCGGGGTGACGGCGCC	0.687		NA							Chordoma, Familial Clustering of				False	0	True	6:166572035	0
OR2A5	393046	broad.mit.edu	37	7	143748124	143748124	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:143748124G>A	ENST00000408906.2	+	1	664	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTGGGGCCGCTCTGCCTGG	0.597		NA											False	0	False	7:143748124	0
METTL15	196074	broad.mit.edu	37	11	28311787	28311787	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:28311787C>G	ENST00000342303.5	+	5	897	c.442C>G	c.(442-444)Cag>Gag	p.Q148E	METTL15_ENST00000303459.6_Missense_Mutation_p.Q148E|METTL15_ENST00000407364.3_Missense_Mutation_p.Q148E|METTL15_ENST00000406787.3_Missense_Mutation_p.Q148E	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	148							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CCAGTTCAGCCAGGCAGAAGC	0.433		NA											False	0	False	11:28311787	0
GTF2IRD1	9569	broad.mit.edu	37	7	74005322	74005322	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:74005322G>A	ENST00000476977.1	+	24	4258	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R871H|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R888H|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R856H			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	871						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCATGTCCGCATGGTCATC	0.612		NA											False	0	False	7:74005322	0
UMOD	7369	broad.mit.edu	37	16	20357449	20357449	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:20357449G>A	ENST00000396134.2	-	6	1403	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	UMOD_ENST00000396142.2_Splice_Site_p.T394M|UMOD_ENST00000396138.4_Splice_Site_p.T443M|UMOD_ENST00000570689.1_Splice_Site_p.T394M|UMOD_ENST00000302509.4_Splice_Site_p.T394M|UMOD_ENST00000424589.1_Splice_Site_p.T427M	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	394	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567		NA											False	0	False	16:20357449	0
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552		NA											False	0	False	16:84476138	0
SLMO2	51012	broad.mit.edu	37	20	57613539	57613539	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:57613539C>T	ENST00000355937.4	-	2	361	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLMO2_ENST00000371033.5_Silent_p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	61	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CAATGGAAGGCAGTCCCCACT	0.443		NA											False	0	False	20:57613539	0
DMD	1756	broad.mit.edu	37	X	32591647	32591647	+	Splice_Site	SNP	G	G	A	rs140919039		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:32591647G>A	ENST00000357033.4	-	15	2018	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A	DMD_ENST00000378677.2_Splice_Site_p.A600A|DMD_ENST00000288447.4_Splice_Site_p.A596A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	604					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTACATACGGCCAGTTTTT	0.308		NA											False	0	False	X:32591647	0
SLC12A9	56996	broad.mit.edu	37	7	100463679	100463679	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:100463679C>T	ENST00000354161.3	+	14	2322	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	733						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAACCTGCTGCGGCCCCGGGG	0.711		NA											False	0	False	7:100463679	0
APC	324	broad.mit.edu	37	5	112170693	112170693	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:112170693G>A	ENST00000457016.1	+	15	2169	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A597T|APC_ENST00000508376.2_Missense_Mutation_p.A597T			P25054	APC_HUMAN	adenomatous polyposis coli	597	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAATTTGTCAGCACATTGCAC	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	False	5:112170693	0
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:129155916G>A	ENST00000429544.2	-	3	766	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443		NA						Base excision repair (BER), DNA glycosylases					False	0	False	3:129155916	0
PCDHGA2	0	broad.mit.edu	37	5	140719009	140719009	+	Silent	SNP	G	G	A	rs151023570		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140719009G>A	ENST00000394576.2	+	1	471	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1				NA										breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAATGCGCATGATGCAG	0.498		NA											False	0	False	5:140719009	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597		NA											False	0	False	6:26184241	0
MIB1	57534	broad.mit.edu	37	18	19429284	19429284	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:19429284T>C	ENST00000261537.6	+	17	2785	c.2521T>C	c.(2521-2523)Tct>Cct	p.S841P	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	841					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCTACCTGTTCTTTATGTTC	0.343		NA											False	0	False	18:19429284	0
LIN37	55957	broad.mit.edu	37	19	36244964	36244964	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:36244964C>T	ENST00000301159.9	+	7	855	c.491C>T	c.(490-492)cCg>cTg	p.P164L	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	164	Pro-rich.						protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACAAGCTGCCGCCACCCACA	0.632		NA											False	0	False	19:36244964	0
EIF2B5	8893	broad.mit.edu	37	3	183860631	183860631	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:183860631G>A	ENST00000273783.3	+	11	1733	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	EIF2B5_ENST00000444495.1_Silent_p.E537E	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	537					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATTCTGAGGAGCCGGACAGCC	0.483		NA											False	0	False	3:183860631	0
RACGAP1	29127	broad.mit.edu	37	12	50410450	50410450	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:50410450G>A	ENST00000434422.1	-	3	350	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	17					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCCACCCGGCGCACAAGCTGC	0.438		NA											False	0	False	12:50410450	0
SMURF2P1	0	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs144598799	by1000genomes	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:28935540G>A	ENST00000579301.1	+	0	391										NA											NA						CGTTGTGTTCGTCTTTTTCCA	0.363		NA											False	0	False	17:28935540	0
SFXN3	81855	broad.mit.edu	37	10	102795364	102795364	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:102795364G>A	ENST00000393459.1	+	4	745	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SFXN3_ENST00000224807.5_Missense_Mutation_p.R95H			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	95					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	p.R95H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CTGATTGGCCGCATGTCAGCC	0.587		NA											False	0	False	10:102795364	0
DHRS4	10901	broad.mit.edu	37	14	24429144	24429144	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr14:24429144G>C	ENST00000313250.5	+	3	543	c.340G>C	c.(340-342)Gtc>Ctc	p.V114L	DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	114						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CGATATCCTAGTCTCCAATGC	0.522		NA											False	0	False	14:24429144	0
RETSAT	54884	broad.mit.edu	37	2	85571747	85571747	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:85571747T>C	ENST00000295802.4	-	7	1338	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C|RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	409					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ATAGTAAACATAGTAGTTGGT	0.567		NA											False	0	False	2:85571747	0
MUC5AC	4586	broad.mit.edu	37	11	1159032	1159032	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:1159032G>A	ENST00000356191.2	+	15	1201	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T						mucin 5AC, oligomeric mucus/gel-forming	NA										NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGCTGCCTATGCCCCAGGGGC	0.657		NA											False	0	True	11:1159032	0
FAM58A	92002	broad.mit.edu	37	X	152861517	152861517	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:152861517C>T	ENST00000406277.2	-	4	337	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	81					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	p.G47S(2)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTTGCCGGCCAAGTAA	0.527		NA											False	0	False	X:152861517	0
BIRC6	57448	broad.mit.edu	37	2	32582309	32582309	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:32582309G>A	ENST00000421745.2	+	1	214	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	27					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGCGCAGGCCGGAAGATGGCG	0.746		NA											False	0	False	2:32582309	0
GAS2L2	246176	broad.mit.edu	37	17	34074090	34074090	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:34074090G>A	ENST00000254466.6	-	5	1057	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	344					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGTTCCCTGCGGGGTCTGGGG	0.627		NA											False	0	True	17:34074090	0
NRK	203447	broad.mit.edu	37	X	105183982	105183982	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:105183982A>G	ENST00000428173.2	+	23	4222	c.3919A>G	c.(3919-3921)Aaa>Gaa	p.K1307E	NRK_ENST00000243300.9_Missense_Mutation_p.K1306E			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1306	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAAGCCTGCAAAGCTATTGA	0.388		NA								HNSCC(51;0.14)			False	0	True	X:105183982	0
IGF2BP3	10643	broad.mit.edu	37	7	23458413	23458413	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:23458413C>T	ENST00000258729.3	-	3	623	c.267G>A	c.(265-267)ccG>ccA	p.P89P	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	89	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTAAATGAGGCGGGATATTTC	0.313		NA											False	0	True	7:23458413	0
FAT3	120114	broad.mit.edu	37	11	92538476	92538476	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:92538476C>T	ENST00000298047.6	+	10	9071	c.9054C>T	c.(9052-9054)agC>agT	p.S3018S	FAT3_ENST00000525166.1_Silent_p.S2868S|FAT3_ENST00000409404.2_Silent_p.S3018S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3018	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAAGTGAGCGTCAGTGATG	0.438		NA								TCGA Ovarian(4;0.039)			False	0	False	11:92538476	0
PRB3	5544	broad.mit.edu	37	12	11420551	11420551	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:11420551C>T	ENST00000279573.7	-	3	767	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PRB3_ENST00000538488.1_Missense_Mutation_p.G190E|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	NA	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.627		NA											False	0	False	12:11420551	0
CDH17	1015	broad.mit.edu	37	8	95178163	95178163	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:95178163C>T	ENST00000027335.3	-	10	1232	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	CDH17_ENST00000441892.2_Missense_Mutation_p.E156K|CDH17_ENST00000450165.2_Missense_Mutation_p.E370K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	370	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCAGTATTTTCTTCATCCCTG	0.418		NA											False	0	True	8:95178163	0
KCNB2	9312	broad.mit.edu	37	8	73848252	73848252	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:73848252C>T	ENST00000523207.1	+	3	1250	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	221					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCAGGAAACGGACGAATTT	0.473		NA											False	0	True	8:73848252	0
ZNF175	7728	broad.mit.edu	37	19	52091537	52091537	+	Silent	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	651					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438		NA											False	0	False	19:52091537	0
FBXO47	494188	broad.mit.edu	37	17	37099973	37099973	+	Silent	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:37099973C>T	ENST00000378079.2	-	8	1009	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	270										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTATCATTTCCTGCCAAACCA	0.388		NA											False	0	False	17:37099973	0
GABRB3	2562	broad.mit.edu	37	15	26866539	26866539	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:26866539T>A	ENST00000541819.2	-	5	653	c.551A>T	c.(550-552)aAg>aTg	p.K184M	GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M|GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000311550.5_Missense_Mutation_p.K128M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	128					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACAAATGACTTTTTGTCATT	0.502		NA											False	0	True	15:26866539	0
HMGCS2	3158	broad.mit.edu	37	1	120307007	120307007	+	Missense_Mutation	SNP	C	C	T	rs147906427	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:120307007C>T	ENST00000369406.3	-	2	396	c.347G>A	c.(346-348)cGc>cAc	p.R116H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R116H|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	116					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GAGCTGTATGCGCTCCATCAG	0.547		NA											False	0	False	1:120307007	0
SLC6A7	6534	broad.mit.edu	37	5	149581925	149581925	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:149581925G>T	ENST00000230671.2	+	7	1245	c.874G>T	c.(874-876)Gct>Tct	p.A292S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A292S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	292						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GATTGAAGCTGCTCTTCAGAT	0.537		NA											False	0	False	5:149581925	0
SPOCK3	50859	broad.mit.edu	37	4	167713399	167713399	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:167713399G>A	ENST00000357154.3	-	8	777	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	214					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AACCAGTCCCGCAATCTGTTT	0.393		NA											False	0	True	4:167713399	0
FRY	10129	broad.mit.edu	37	13	32759255	32759255	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:32759255A>G	ENST00000380250.3	+	26	3785	c.3289A>G	c.(3289-3291)Atg>Gtg	p.M1097V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1097					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTAGTGCAATGGTGGCCAA	0.413		NA											False	0	False	13:32759255	0
PEG3	5178	broad.mit.edu	37	19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R598H(2)		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)		ttcacgttcacgttcatgttc	0.458		NA											False	0	True	19:57328017	0
LRRC27	80313	broad.mit.edu	37	10	134155718	134155718	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:134155718C>T	ENST00000392638.2	+	4	538	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	LRRC27_ENST00000368613.4_Splice_Site_p.H115Y|LRRC27_ENST00000368610.3_Splice_Site_p.H53Y|LRRC27_ENST00000344079.5_Splice_Site_p.H115Y|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000368615.3_Splice_Site_p.H115Y|LRRC27_ENST00000368612.1_Splice_Site_p.H53Y|LRRC27_ENST00000368614.3_Splice_Site_p.H115Y|LRRC27_ENST00000356571.4_Intron			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	115										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCTTTAAAGGCATTTGAAAAC	0.264		NA											False	0	False	10:134155718	0
