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
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
KRT2	3849	broad.mit.edu	37	12	53045775	53045777	+	In_Frame_Del	DEL	CCG	CCG	-	rs11835758	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:53045775_53045777delCCG	ENST00000309680.3	-	1	171_173	c.150_152delCGG	c.(148-153)ggcggg>ggg	p.50_51GG>G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	50	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCGAAGCCCCCGCCACCACCAC	0.621		NA											False	1	True	12:53045775	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
SMAD4	4089	broad.mit.edu	37	18	48603039	48603066	+	Frame_Shift_Del	DEL	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	-	-	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr18:48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	ENST00000588745.1	+	7	1052_1079	c.1052_1079delTGCAGCAGCAGGCGGCTACTGCACAAGC	c.(1051-1080)atgcagcagcaggcggctactgcacaagctfs	p.MQQQAATAQA351fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.MQQQAATAQA447fs|SMAD4_ENST00000342988.3_Frame_Shift_Del_p.MQQQAATAQA447fs			Q13485	SMAD4_HUMAN	SMAD family member 4	447	MH2.		D -> N (in a colorectal cancer sample; somatic mutation).		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.Q448fs*20(2)|p.?(2)|p.Q450fs*17(1)|p.R441fs*16(1)		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)		CATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCT	0.452		NA											False	1	False	18:48603039	0
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71		NA											False	1	False	19:14083667	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011916	46011917	+	In_Frame_Ins	INS	-	-	CTA			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46011916_46011917insCTA	ENST00000400368.1	-	1	469_470	c.449_450insTAG	c.(448-450)ccc>ccTAGc	p.150_151insS	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	150	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CCTGCTGGCAGGGGGAGGAGGT	0.599		NA											False	0	True	21:46011916	0
RERE	473	broad.mit.edu	37	1	8555136	8555153	+	In_Frame_Del	DEL	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	-	-	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:8555136_8555153delTTCAGAGTGGTGTCATCC	ENST00000337907.3	-	11	1708_1725	c.1074_1091delGGATGACACCACTCTGAA	c.(1072-1092)cgggatgacaccactctgaat>cgt	p.DDTTLN359del	RERE_ENST00000400908.2_In_Frame_Del_p.DDTTLN359del|RERE_ENST00000377464.1_In_Frame_Del_p.DDTTLN91del|RERE_ENST00000400907.2_In_Frame_Del_p.DDTTLN359del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	359	ELM2.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTCAGTGCATTCAGAGTGGTGTCATCCCGAGAGGCTG	0.491		NA											False	1	False	1:8555136	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	NA										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314		NA											False	1	False	2:97847365	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
MACF1	23499	broad.mit.edu	37	1	39784230	39784230	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:39784230G>A	ENST00000564288.1	+	30	4665	c.3888G>A	c.(3886-3888)atG>atA	p.M1296I	MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I|MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.M1301I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1301				TA -> LP (in Ref. 4; AAL39000).	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAAATGATGAAGCCAGGCC	0.512		NA											False	0	False	1:39784230	0
MCM2	4171	broad.mit.edu	37	3	127327253	127327253	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:127327253G>A	ENST00000265056.7	+	7	1374	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	377					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CAGCGTATCCGAATCCAGGAG	0.577		NA											False	0	False	3:127327253	0
OR52R1	119695	broad.mit.edu	37	11	4824947	4824947	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:4824947C>T	ENST00000380382.1	-	1	900	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	OR52R1_ENST00000356069.2_Missense_Mutation_p.V222M|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAATCATCACGTATGACATA	0.473		NA											False	0	False	11:4824947	0
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383		NA											False	0	True	4:52777312	0
MED13L	23389	broad.mit.edu	37	12	116413394	116413394	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:116413394C>A	ENST00000281928.3	-	24	5720	c.5514G>T	c.(5512-5514)tgG>tgT	p.W1838C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1838					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCCAAAAGCCAGCGCTGGT	0.483		NA											False	0	False	12:116413394	0
IGLV2-14	0	broad.mit.edu	37	22	23101570	23101570	+	RNA	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr22:23101570G>A	ENST00000390312.2	+	0	265										NA											NA						GTCAGTAATCGGCCCTCAGGG	0.532		NA											False	0	False	22:23101570	0
TEFM	79736	broad.mit.edu	37	17	29226555	29226555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:29226555G>A	ENST00000581216.1	-	4	1336	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	239					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding				NA						GATGAGTTCTGAATGGAAAGT	0.348		NA											False	0	False	17:29226555	0
NBR2	0	broad.mit.edu	37	17	41290990	41290990	+	RNA	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:41290990C>A	ENST00000460115.1	+	0	490					NR_003108.1					NA											NA						caaccttcaccacctctagcc	0.458		NA											False	0	False	17:41290990	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905776	132905776	+	Silent	SNP	A	A	G	rs16848773	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:132905776A>G	ENST00000409867.1	-	6	954	c.705T>C	c.(703-705)gaT>gaC	p.D235D	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like	NA										endometrium(1)|kidney(3)	4						GTGCAGCCTCATCAGGTGTTC	0.433		NA											False	0	False	2:132905776	0
PCDHGB7	0	broad.mit.edu	37	5	140798660	140798660	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140798660C>T	ENST00000398594.2	+	1	1234	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1				NA										central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCTGGATCGGGAGCAGAC	0.473		NA											False	0	True	5:140798660	0
MCF2	4168	broad.mit.edu	37	X	138678769	138678769	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:138678769C>T	ENST00000520602.1	-	22	2681	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H	MCF2_ENST00000519895.1_Missense_Mutation_p.R815H|MCF2_ENST00000370573.4_Missense_Mutation_p.R739H|MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000370576.4_Missense_Mutation_p.R739H|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	739	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACTTTCAACACGCCTTTTGCA	0.383		NA											False	0	False	X:138678769	0
CIDEB	27141	broad.mit.edu	37	14	24779887	24779887	+	Translation_Start_Site	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:24779887G>A	ENST00000336557.5	-	0	714				CIDEB_ENST00000258807.5_De_novo_Start_OutOfFrame|LTB4R2_ENST00000528054.1_Missense_Mutation_p.R37H|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R6H|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R6H			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	NA					apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GTCTGCTACCGTCCCCCAGGG	0.662		NA											False	0	False	14:24779887	0
AJAP1	55966	broad.mit.edu	37	1	4832475	4832475	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:4832475C>T	ENST00000378191.4	+	4	1434	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	AJAP1_ENST00000378190.3_Silent_p.N351N	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	351	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGCCTATAACGAGACCCTGC	0.597		NA											False	0	False	1:4832475	0
ITPA	3704	broad.mit.edu	37	20	3193873	3193873	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3193873G>A	ENST00000380113.3	+	2	316		c.e2+1		ITPA_ENST00000483354.1_Splice_Site|ITPA_ENST00000399838.3_Intron|ITPA_ENST00000455664.2_Splice_Site	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	NA					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AAAATTGACCGTATGTCTCTG	0.403		NA											False	0	False	20:3193873	0
FLG	2312	broad.mit.edu	37	1	152284369	152284369	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:152284369G>C	ENST00000368799.1	-	3	3028	c.2993C>G	c.(2992-2994)tCt>tGt	p.S998C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	998	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S998Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCTGCAGAGTGCCCGTG	0.562		NA							Ichthyosis				False	0	False	1:152284369	0
UBE2G2	7327	broad.mit.edu	37	21	46191357	46191357	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46191357G>A	ENST00000345496.2	-	6	703	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Missense_Mutation_p.R117C	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	145					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		CGGTCATCGCGCCACATTTTG	0.532		NA											False	0	False	21:46191357	0
OR5P2	120065	broad.mit.edu	37	11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	rs147652902		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493		NA											False	0	False	11:7818171	0
DOCK1	1793	broad.mit.edu	37	10	129216680	129216680	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:129216680G>A	ENST00000280333.6	+	45	4613	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1502	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCTGACGAACGACAAGATCAA	0.587		NA											False	0	True	10:129216680	0
LATS1	9113	broad.mit.edu	37	6	149983251	149983251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:149983251C>A	ENST00000543571.1	-	8	3554	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.E1003*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1003	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTTTTATTTCATCAGCACCA	0.408		NA											False	0	True	6:149983251	0
STAG2	10735	broad.mit.edu	37	X	123181240	123181240	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:123181240T>A	ENST00000371160.1	+	9	994	c.704T>A	c.(703-705)cTa>cAa	p.L235Q	STAG2_ENST00000218089.9_Missense_Mutation_p.L235Q|STAG2_ENST00000371145.3_Missense_Mutation_p.L235Q|STAG2_ENST00000354548.5_Missense_Mutation_p.L166Q|STAG2_ENST00000371157.3_Missense_Mutation_p.L235Q|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L235Q	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	235					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATGTGGCACTAAATCTTAGC	0.328		NA											False	0	True	X:123181240	0
CHMP7	91782	broad.mit.edu	37	8	23114047	23114047	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:23114047G>A	ENST00000397677.1	+	5	1380	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CHMP7_ENST00000313219.7_Silent_p.L244L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	244					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTACCAGCTGATGCAGAGTG	0.517		NA											False	0	False	8:23114047	0
CILP2	148113	broad.mit.edu	37	19	19656676	19656676	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:19656676C>T	ENST00000586018.1	+	8	3442	c.3340C>T	c.(3340-3342)Ccg>Tcg	p.P1114S	CILP2_ENST00000291495.5_Missense_Mutation_p.P1108S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1108						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGAGCCACCGGCCGGACG	0.657		NA											False	0	True	19:19656676	0
ERN2	10595	broad.mit.edu	37	16	23702206	23702206	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:23702206G>C	ENST00000256797.4	-	22	3039	c.2871C>G	c.(2869-2871)taC>taG	p.Y957*	ERN2_ENST00000457008.2_Nonsense_Mutation_p.Y857*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	909					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGCGGGTAGTAGGGCAGGA	0.632		NA											False	0	False	16:23702206	0
ELK4	2005	broad.mit.edu	37	1	205589059	205589059	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:205589059A>C	ENST00000289703.4	-	3	1454	c.1115T>G	c.(1114-1116)cTt>cGt	p.L372R	ELK4_ENST00000357992.4_Intron	NM_021795.2	NP_068567.1			ELK4, ETS-domain protein (SRF accessory protein 1)	NA									SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AATAAATGAAAGCAATGGTGA	0.408		NA	T	SLC45A3	prostate								False	0	True	1:205589059	0
APBB2	323	broad.mit.edu	37	4	40895355	40895355	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:40895355G>A	ENST00000295974.8	-	11	1954	c.1325C>T	c.(1324-1326)gCg>gTg	p.A442V	APBB2_ENST00000508593.1_Missense_Mutation_p.A443V|APBB2_ENST00000513140.1_Missense_Mutation_p.A421V|APBB2_ENST00000506352.1_Missense_Mutation_p.A421V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	442	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.A421V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTTGTTGACCGCAACACTACT	0.502		NA											False	0	False	4:40895355	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662		NA											False	0	False	21:46057497	0
KALRN	8997	broad.mit.edu	37	3	124385955	124385955	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:124385955G>A	ENST00000291478.5	+	14	1697	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	KALRN_ENST00000459915.1_Missense_Mutation_p.A301T|KALRN_ENST00000428018.2_Missense_Mutation_p.A480T|KALRN_ENST00000393496.1_Missense_Mutation_p.A550T|KALRN_ENST00000360013.3_Missense_Mutation_p.A2209T	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	NA					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGCAAGCCGCCAACGCTGA	0.507		NA											False	0	False	3:124385955	0
BMP1	649	broad.mit.edu	37	8	22037986	22037986	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:22037986C>A	ENST00000306385.5	+	8	1737	c.1067C>A	c.(1066-1068)cCc>cAc	p.P356H	BMP1_ENST00000397814.3_Missense_Mutation_p.P356H|BMP1_ENST00000306349.8_Missense_Mutation_p.P356H|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.P356H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCTGTCACACCCGGGGAGAAG	0.612		NA											False	0	True	8:22037986	0
CLCN4	0	broad.mit.edu	37	X	10188809	10188809	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:10188809G>A	ENST00000380833.4	+	12	2475	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	CLCN4_ENST00000380829.1_Missense_Mutation_p.R664H|CLCN4_ENST00000421085.2_Missense_Mutation_p.R601H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	695						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCTGCGGCGCATCCTGAAC	0.592		NA											False	0	False	X:10188809	0
PEG3	5178	broad.mit.edu	37	19	57335649	57335649	+	Translation_Start_Site	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:57335649C>A	ENST00000598410.1	-	0	378				ZIM2_ENST00000601070.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593931.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000221722.5_De_novo_Start_OutOfFrame|PEG3_ENST00000423103.2_Missense_Mutation_p.K125N|ZIM2_ENST00000599935.1_De_novo_Start_OutOfFrame|PEG3_ENST00000326441.9_Missense_Mutation_p.K125N|PEG3_ENST00000593695.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593711.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000391708.3_De_novo_Start_OutOfFrame	NM_001146185.1|NM_001146187.1	NP_001139657.1|NP_001139659.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	NA					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTACATCTCCTTGTAATTCT	0.547		NA											False	0	False	19:57335649	0
SNCAIP	9627	broad.mit.edu	37	5	121786604	121786604	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:121786604C>T	ENST00000261367.7	+	12	3631	c.2203C>T	c.(2203-2205)Ccc>Tcc	p.P735S	CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P322S|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P246S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P628S|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P290S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P688S|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P735S|CTC-210G5.1_ENST00000506053.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	688					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTCTGAGGACCCCAAGACTAC	0.547		NA											False	0	True	5:121786604	0
PPFIA2	8499	broad.mit.edu	37	12	81769706	81769706	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:81769706C>G	ENST00000550584.2	-	9	1295	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	PPFIA2_ENST00000407050.4_Missense_Mutation_p.E260Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E181Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E316Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E235Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E316Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	260										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCATATCTTCCTTTTGTGCC	0.308		NA											False	0	False	12:81769706	0
NIPAL3	57185	broad.mit.edu	37	1	24782657	24782657	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:24782657G>A	ENST00000003912.3	+	9	1136	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	NIPAL3_ENST00000339255.2_Missense_Mutation_p.V223M|NIPAL3_ENST00000374399.4_Missense_Mutation_p.V223M			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	223						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGGCCGTGGCTGGGAT	0.557		NA											False	0	False	1:24782657	0
OTOGL	283310	broad.mit.edu	37	12	80651774	80651774	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:80651774T>A	ENST00000458043.2	+	17	1860	c.1854T>A	c.(1852-1854)gaT>gaA	p.D618E	OTOGL_ENST00000547103.1_Missense_Mutation_p.D618E	NM_173591.3	NP_775862.3			otogelin-like	NA										breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACATAAGGGATGATTTTCTGT	0.308		NA											False	0	False	12:80651774	0
PDE4C	5143	broad.mit.edu	37	19	18331319	18331319	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:18331319G>A	ENST00000355502.3	-	10	1473	c.602C>T	c.(601-603)aCg>aTg	p.T201M	PDE4C_ENST00000539010.1_De_novo_Start_InFrame|PDE4C_ENST00000262805.12_Missense_Mutation_p.T169M|PDE4C_ENST00000594465.3_Missense_Mutation_p.T201M|PDE4C_ENST00000447275.3_Missense_Mutation_p.T95M|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Missense_Mutation_p.T201M|PDE4C_ENST00000597297.1_Intron			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	201					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CTTCTGCCCCGTGTCCTCTGG	0.657		NA											False	0	True	19:18331319	0
EEF2	1938	broad.mit.edu	37	19	3976682	3976682	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:3976682T>A	ENST00000309311.6	-	15	2535	c.2447A>T	c.(2446-2448)cAc>cTc	p.H816L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	816						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GATCTGCCAGTGGTCAAACAC	0.657		NA											False	0	False	19:3976682	0
PCDHA8	0	broad.mit.edu	37	5	140223264	140223264	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140223264C>T	ENST00000531613.1	+	1	2358	c.2358C>T	c.(2356-2358)ggC>ggT	p.G786G	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G786G|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1				NA										NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATGTAGGCGAAGAGCAAG	0.448		NA											False	0	False	5:140223264	0
FATE1	89885	broad.mit.edu	37	X	150890398	150890398	+	Missense_Mutation	SNP	C	C	T	rs144817068		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:150890398C>T	ENST00000370350.3	+	4	450	c.365C>T	c.(364-366)gCg>gTg	p.A122V		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	122						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCAGTGGCGCAGACTAGC	0.547		NA											False	0	False	X:150890398	0
MREG	55686	broad.mit.edu	37	2	216861118	216861118	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:216861118G>A	ENST00000263268.6	-	2	461	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	56						apical plasma membrane				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		ACATCATGGGGCATACTCCAT	0.438		NA											False	0	True	2:216861118	0
SYNRG	11276	broad.mit.edu	37	17	35960421	35960421	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:35960421C>G	ENST00000339208.6	-	2	247	c.107G>C	c.(106-108)aGa>aCa	p.R36T	SYNRG_ENST00000345615.4_Missense_Mutation_p.R36T|SYNRG_ENST00000591288.1_Missense_Mutation_p.R36T|SYNRG_ENST00000394378.2_Missense_Mutation_p.R36T|SYNRG_ENST00000585472.1_Missense_Mutation_p.R36T|SYNRG_ENST00000502449.2_Missense_Mutation_p.R36T|SYNRG_ENST00000346661.4_Missense_Mutation_p.R36T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	36					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGGGGGTCTTATCCCACC	0.308		NA											False	0	False	17:35960421	0
EEPD1	80820	broad.mit.edu	37	7	36194002	36194002	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:36194002G>C	ENST00000242108.4	+	2	787	c.69G>C	c.(67-69)aaG>aaC	p.K23N	EEPD1_ENST00000534978.1_Missense_Mutation_p.K23N	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	23					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATAGCCGCAAGTTCAGCGCAG	0.632		NA											False	0	False	7:36194002	0
APBA2	321	broad.mit.edu	37	15	29347038	29347038	+	Splice_Site	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:29347038G>T	ENST00000558402.1	+	5	1550	c.951G>T	c.(949-951)caG>caT	p.Q317H	APBA2_ENST00000411764.1_Splice_Site_p.Q317H|APBA2_ENST00000558330.1_Splice_Site_p.Q317H|APBA2_ENST00000558259.1_Splice_Site_p.Q317H|APBA2_ENST00000561069.1_Splice_Site_p.Q317H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	317					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCACGAGCAGGTAGGACCCT	0.657		NA											False	0	False	15:29347038	0
FZD10	11211	broad.mit.edu	37	12	130648664	130648664	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:130648664G>A	ENST00000539839.1	+	1	1661	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	FZD10_ENST00000229030.4_Missense_Mutation_p.A393T	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A393S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGACGTCAACGCGCTCACCGG	0.657		NA											False	0	False	12:130648664	0
ZNF500	26048	broad.mit.edu	37	16	4815918	4815918	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:4815918T>A	ENST00000219478.6	-	2	361	c.62A>T	c.(61-63)gAg>gTg	p.E21V	ZNF500_ENST00000545009.1_Missense_Mutation_p.E21V			O60304	ZN500_HUMAN	zinc finger protein 500	21					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATCAGGATCTCTTCCTGTTC	0.602		NA											False	0	False	16:4815918	0
FAM13B	0	broad.mit.edu	37	5	137288332	137288332	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:137288332G>A	ENST00000033079.3	-	16	2300	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	FAM13B_ENST00000425075.2_Missense_Mutation_p.R521W|FAM13B_ENST00000420893.2_Missense_Mutation_p.R617W	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	617					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ATTTGCTTCCGCAGTTTTGTA	0.313		NA											False	0	False	5:137288332	0
METTL25	84190	broad.mit.edu	37	12	82752352	82752352	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:82752352C>T	ENST00000248306.3	+	1	77	c.8C>T	c.(7-9)gCt>gTt	p.A3V	CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25	NA											NA						GTCATGGCGGCTTCTTGCCCT	0.637		NA									OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:82752352	0
PLEKHM3	389072	broad.mit.edu	37	2	208842157	208842157	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:208842157G>A	ENST00000457206.1	-	3	1191	c.764C>T	c.(763-765)gCc>gTc	p.A255V	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A255V|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A255V			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	255	PH 1.				intracellular signal transduction		metal ion binding	p.A255V(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGTACGTGGCATAAAGGTT	0.448		NA											False	0	False	2:208842157	0
PRRC2B	84726	broad.mit.edu	37	9	134351251	134351251	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:134351251C>T	ENST00000357304.4	+	15	3790	c.3735C>T	c.(3733-3735)tgC>tgT	p.C1245C	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1245							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCGACACATGCGGATCCCGGC	0.592		NA									OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:134351251	0
NWD1	284434	broad.mit.edu	37	19	16884049	16884049	+	Silent	SNP	C	C	T	rs144961672	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:16884049C>T	ENST00000524140.2	+	11	2941	c.2523C>T	c.(2521-2523)tgC>tgT	p.C841C	NWD1_ENST00000549814.1_Silent_p.C841C|NWD1_ENST00000523826.1_Silent_p.C635C|NWD1_ENST00000339803.6_Silent_p.C706C|NWD1_ENST00000379808.3_Silent_p.C841C|NWD1_ENST00000552788.1_Silent_p.C841C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	841							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTTGTGCGCACACCCTG	0.622		NA											False	0	False	19:16884049	0
DCAF8L2	347442	broad.mit.edu	37	X	27766129	27766129	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:27766129A>G	ENST00000451261.2	+	5	1516	c.1117A>G	c.(1117-1119)Act>Gct	p.T373A		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2	NA										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GTATACAATTACTGTGAATCC	0.403		NA											False	0	False	X:27766129	0
MAGEB1	4112	broad.mit.edu	37	X	30269201	30269201	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:30269201G>A	ENST00000378981.3	+	4	912	c.591G>A	c.(589-591)agG>agA	p.R197R	MAGEB1_ENST00000397548.2_Silent_p.R197R|MAGEB1_ENST00000397550.1_Silent_p.R197R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	197	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTTTCCCAGGAATGGGCTTC	0.488		NA											False	0	False	X:30269201	0
MAN1A1	4121	broad.mit.edu	37	6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413		NA											False	0	False	6:119509656	0
PDXDC1	23042	broad.mit.edu	37	16	15116567	15116567	+	Missense_Mutation	SNP	C	C	T	rs151168975	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:15116567C>T	ENST00000396410.4	+	13	1193	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.R366W(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCAGAGTCAACGGTTGCAGGA	0.368		NA											False	0	False	16:15116567	0
PLXNC1	10154	broad.mit.edu	37	12	94658986	94658986	+	Silent	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:94658986G>T	ENST00000258526.4	+	21	3831	c.3582G>T	c.(3580-3582)ccG>ccT	p.P1194P	PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Silent_p.P241P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1194					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCAGGTTCCGGAATTCAGTA	0.453		NA											False	0	False	12:94658986	0
DERL1	79139	broad.mit.edu	37	8	124027758	124027758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:124027758G>A	ENST00000259512.4	-	8	985	c.685C>T	c.(685-687)Cga>Tga	p.R229*	DERL1_ENST00000523036.1_Nonsense_Mutation_p.R129*|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Nonsense_Mutation_p.R209*|DERL1_ENST00000519018.1_Nonsense_Mutation_p.R129*|DERL1_ENST00000419562.2_Nonsense_Mutation_p.R129*	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	229					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCAGCAGCTCGCCTCATGCTA	0.627		NA											False	0	False	8:124027758	0
GALNT2	2590	broad.mit.edu	37	1	230338964	230338964	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:230338964G>A	ENST00000366672.4	+	3	374	c.302G>A	c.(301-303)cGc>cAc	p.R101H	GALNT2_ENST00000541865.1_Missense_Mutation_p.R11H|GALNT2_ENST00000543760.1_Missense_Mutation_p.R63H	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	101					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CCTTACGCCCGCAACAAGTTC	0.547		NA											False	0	True	1:230338964	0
PI15	51050	broad.mit.edu	37	8	75761394	75761394	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:75761394C>A	ENST00000260113.2	+	6	862	c.683C>A	c.(682-684)cCa>cAa	p.P228Q	PI15_ENST00000523773.1_Missense_Mutation_p.P228Q|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	228						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTAGGGGTACCATGTTCATCT	0.393		NA											False	0	False	8:75761394	0
PRDM13	59336	broad.mit.edu	37	6	100061933	100061933	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:100061933G>A	ENST00000369215.4	+	4	1727	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGGCTCACCGGCCACCACCG	0.632		NA											False	0	False	6:100061933	0
FIGN	55137	broad.mit.edu	37	2	164467285	164467285	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:164467285C>T	ENST00000333129.3	-	3	1371	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	353						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGCTGTTGTCGGGCATTCTG	0.448		NA											False	0	True	2:164467285	0
AVP	551	broad.mit.edu	37	20	3065264	3065264	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3065264C>T	ENST00000380293.3	-	1	106	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	19			A -> T (in ADNDI; probably causes insufficient processing of precursor).|A -> V (in ADNDI).		cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGAAGTAGCACGCGGAGGAGA	0.637		NA											False	0	False	20:3065264	0
SLC22A11	55867	broad.mit.edu	37	11	64337198	64337198	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:64337198G>A	ENST00000301891.4	+	9	1831	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R378H	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	486					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTGATGAGCCGCCAAGCCCTG	0.612		NA											False	0	False	11:64337198	0
PHIP	55023	broad.mit.edu	37	6	79668316	79668316	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:79668316G>A	ENST00000275034.4	-	32	3825	c.3658C>T	c.(3658-3660)Cgg>Tgg	p.R1220W	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1220	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAAGAAACCCGCCTTAAAAAA	0.328		NA											False	0	True	6:79668316	0
EML1	2009	broad.mit.edu	37	14	100380996	100380996	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:100380996G>A	ENST00000262233.6	+	15	1853	c.1714G>A	c.(1714-1716)Gct>Act	p.A572T	EML1_ENST00000327921.9_Missense_Mutation_p.A560T|EML1_ENST00000334192.4_Missense_Mutation_p.A591T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	572						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCTCTGGGACGCTGTGGGTCA	0.453		NA											False	0	False	14:100380996	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	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	12:25398284	0
PPRC1	23082	broad.mit.edu	37	10	103900075	103900075	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:103900075C>T	ENST00000278070.2	+	5	1849	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	PPRC1_ENST00000413464.2_Missense_Mutation_p.P604S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTAGCTGGCCCTGTACCTGT	0.577		NA											False	0	True	10:103900075	0
INPP4B	8821	broad.mit.edu	37	4	143033802	143033802	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:143033802G>A	ENST00000513000.1	-	23	2602	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	INPP4B_ENST00000508116.1_Silent_p.A723A|INPP4B_ENST00000262992.4_Silent_p.A723A|INPP4B_ENST00000308502.4_Silent_p.A723A|INPP4B_ENST00000509777.1_Silent_p.A723A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	723					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAAACATTCTGGCTGGAAGCT	0.368		NA											False	0	True	4:143033802	0
PRAF2	11230	broad.mit.edu	37	X	48931491	48931491	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:48931491G>A	ENST00000376390.4	-	1	239	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PRAF2_ENST00000491199.1_5'UTR|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000376386.3_Silent_p.F52F|AF196779.12_ENST00000376358.3_Intron	NM_007213.1	NP_009144.1			PRA1 domain family, member 2	NA										endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GGCCGATGCCGAAGCAGAGAA	0.657		NA											False	0	False	X:48931491	0
WNT10B	7480	broad.mit.edu	37	12	49360058	49360058	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:49360058C>T	ENST00000301061.4	-	5	1338	c.990G>A	c.(988-990)agG>agA	p.R330R	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	330					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGGCCCGGCCCCTTGTCCCTG	0.642		NA											False	0	True	12:49360058	0
OR1L1	26737	broad.mit.edu	37	9	125424096	125424096	+	Silent	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:125424096C>A	ENST00000373686.1	+	1	252	c.252C>A	c.(250-252)atC>atA	p.I84I	OR1L1_ENST00000309623.1_Silent_p.I34I			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCCTCCCCATCTACCTTATCA	0.493		NA											False	0	False	9:125424096	0
NBR2	0	broad.mit.edu	37	17	41291032	41291032	+	RNA	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:41291032C>A	ENST00000460115.1	+	0	490					NR_003108.1					NA											NA						tgcctatatacaacccctttt	0.448		NA											False	0	True	17:41291032	0
RP11-257K9.8	0	broad.mit.edu	37	6	73935126	73935126	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:73935126G>T	ENST00000423730.3	-	4	749	c.314C>A	c.(313-315)cCg>cAg	p.P105Q	KHDC1L_ENST00000370388.3_Silent_p.A2A|KHDC1L_ENST00000471312.1_5'UTR						NA											NA						TCGTTCCCACGGCCATGCTGT	0.532		NA											False	0	False	6:73935126	0
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557		NA											False	0	True	20:34241168	0
GLMN	11146	broad.mit.edu	37	1	92737044	92737044	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:92737044C>G	ENST00000370360.3	-	8	982	c.901G>C	c.(901-903)Gat>Cat	p.D301H	GLMN_ENST00000534881.1_Missense_Mutation_p.D301H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	301					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GGAAGCTGATCAATATGGATG	0.318		NA							Multiple Glomus Tumors (of the Skin), Familial				False	0	False	1:92737044	0
MKRN3	7681	broad.mit.edu	37	15	23811290	23811290	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:23811290C>A	ENST00000314520.3	+	1	837	c.361C>A	c.(361-363)Ctt>Att	p.L121I	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	121						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTCGCACGACCTTTCTGGTCG	0.602		NA											False	0	True	15:23811290	0
SETD2	29072	broad.mit.edu	37	3	47098937	47098937	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:47098937G>A	ENST00000409792.3	-	15	6379	c.6337C>T	c.(6337-6339)Cgc>Tgc	p.R2113C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTATTGCGGTCTTTAATT	0.403		NA	"""N, F, S, Mis"""		clear cell renal carcinoma								False	0	False	3:47098937	0
NBR2	0	broad.mit.edu	37	17	41290972	41290972	+	RNA	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:41290972C>T	ENST00000460115.1	+	0	490					NR_003108.1					NA											NA						ggtacaaccccctccccacaa	0.468		NA											False	0	True	17:41290972	0
ANKRD28	23243	broad.mit.edu	37	3	15762489	15762489	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:15762489G>A	ENST00000399451.2	-	8	1206	c.839C>T	c.(838-840)gCt>gTt	p.A280V	ANKRD28_ENST00000383777.1_Missense_Mutation_p.A313V|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	280						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGTTGATGCAGCAGCAAAGTG	0.373		NA											False	0	True	3:15762489	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124629	26124629	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:26124629G>A	ENST00000602637.1	+	1	199	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57K			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	57					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCGGTGTTAGAGTACCTGAC	0.662		NA											False	0	False	6:26124629	0
