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
MLXIP	22877	broad.mit.edu	37	12	122623075	122623075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:122623075delC	ENST00000319080.6	+	14	2493	c.2361delC	c.(2359-2361)atcfs	p.I787fs	MLXIP_ENST00000538698.1_Frame_Shift_Del_p.I394fs			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	787	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGAGGAGATCGAGGAGCTCA	0.632		NA											False	1	False	12:122623075	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	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
ITGAE	3682	broad.mit.edu	37	17	3664359	3664361	+	In_Frame_Del	DEL	CTT	CTT	-	rs140947594	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:3664359_3664361delCTT	ENST00000263087.4	-	6	642_644	c.544_546delAAG	c.(544-546)aagdel	p.K182del		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	182	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		cctcctcctccttctccAGAGCC	0.567		NA											False	1	True	17:3664359	0
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs6425573		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316		NA											False	1	True	1:179504035	0
CDC27	996	broad.mit.edu	37	17	45214725	45214726	+	Splice_Site	INS	-	-	GCTCTGGAGGATTTTTAT			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:45214725_45214726insGCTCTGGAGGATTTTTAT	ENST00000066544.3	-	14	1798_1799	c.1705_1706insATAAAAATCCTCCAGAGC	c.(1705-1707)gcc>gATAAAAATCCTCCAGAGCcc	p.569_569A>DKNPPEP	CDC27_ENST00000527547.1_Splice_Site_p.568_568A>DKNPPEP|CDC27_ENST00000446365.2_Splice_Site_p.508_508A>DKNPPEP|CDC27_ENST00000531206.1_Splice_Site_p.575_575A>DKNPPEP	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	569					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCACACCAGGCCTTAAAAAAA	0.351		NA											False	0	False	17:45214725	0
STK4	6789	broad.mit.edu	37	20	43623799	43623801	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	AAT	AAT	-	-	AAT	AAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr20:43623799_43623801delAAT	ENST00000372806.3	+	6	689_691	c.594_596delAAT	c.(592-597)gaaatt>gat	p.198_199EI>D	STK4_ENST00000372801.1_In_Frame_Del_p.198_199EI>D|STK4_ENST00000396731.4_In_Frame_Del_p.198_199EI>D|STK4_ENST00000499879.2_In_Frame_Del_p.143_144EI>D	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	198	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGATTCAGGAAATTGGATACAAC	0.448		NA											False	1	True	20:43623799	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
FRMD4A	55691	broad.mit.edu	37	10	13736001	13736001	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:13736001G>A	ENST00000357447.2	-	15	1382	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	FRMD4A_ENST00000342409.2_Silent_p.A354A|FRMD4A_ENST00000378503.1_Silent_p.A338A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Silent_p.A323A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	338						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCAGGTCGATGGCGATCTCAC	0.572		NA											False	0	False	10:13736001	0
XIST	0	broad.mit.edu	37	X	73061360	73061360	+	RNA	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:73061360T>C	ENST00000429829.1	-	0	11228					NR_001564.2					NA											NA						ACTGCTGTTGTGATGACTAGT	0.423		NA											False	0	False	X:73061360	0
USP29	0	broad.mit.edu	37	19	57641566	57641566	+	Missense_Mutation	SNP	T	T	A	rs145552693		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:57641566T>A	ENST00000254181.4	+	4	1977	c.1523T>A	c.(1522-1524)aTc>aAc	p.I508N	USP29_ENST00000598197.1_Missense_Mutation_p.I508N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	508					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGTCCTTATCATTCATCTG	0.368		NA											False	0	True	19:57641566	0
IFT140	9742	broad.mit.edu	37	16	1633329	1633329	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:1633329G>A	ENST00000426508.2	-	12	1781	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	473										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACTCCGTATCGCGGCTCCAGA	0.567		NA											False	0	False	16:1633329	0
RYR3	6263	broad.mit.edu	37	15	33895400	33895400	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:33895400G>A	ENST00000389232.4	+	18	2069	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	RYR3_ENST00000415757.3_Missense_Mutation_p.D667N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	667	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGATTATCGACCAGGTGGA	0.567		NA											False	0	False	15:33895400	0
LRRC8E	80131	broad.mit.edu	37	19	7965572	7965572	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:7965572G>A	ENST00000306708.6	+	3	2266	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	722						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TTCTTCTGCCGCAAGCTGCGG	0.657		NA											False	0	False	19:7965572	0
DNAH9	1770	broad.mit.edu	37	17	11725368	11725368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:11725368C>T	ENST00000262442.4	+	46	8907	c.8839C>T	c.(8839-8841)Cga>Tga	p.R2947*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R2947*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	NA	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGGATCCGGCGACAGCTGAA	0.463		NA											False	0	False	17:11725368	0
PCDH19	57526	broad.mit.edu	37	X	99551638	99551638	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:99551638C>G	ENST00000373034.4	-	6	4759	c.3084G>C	c.(3082-3084)gaG>gaC	p.E1028D	PCDH19_ENST00000255531.7_Missense_Mutation_p.E981D|PCDH19_ENST00000420881.2_Missense_Mutation_p.E980D	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1028					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TAGGCCTCTCCTCAGCCGGGT	0.577		NA											False	0	False	X:99551638	0
TLR9	54106	broad.mit.edu	37	3	52257685	52257685	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:52257685C>T	ENST00000597542.1	-	9	1676	c.719G>A	c.(718-720)cGc>cAc	p.R240H	TLR9_ENST00000360658.2_Missense_Mutation_p.R216H|TLR9_ENST00000494383.1_Silent_p.P369P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	216					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.R216H(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGGCAGGTTGCGGGGCACCAC	0.632		NA											False	0	True	3:52257685	0
MORC4	79710	broad.mit.edu	37	X	106229348	106229348	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:106229348G>A	ENST00000355610.4	-	4	665	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	MORC4_ENST00000255495.7_Missense_Mutation_p.R131W|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	131							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TTTCCTAGCCGCATGGAGCCT	0.473		NA											False	0	False	X:106229348	0
FRMPD4	9758	broad.mit.edu	37	X	12704277	12704277	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:12704277A>G	ENST00000380682.1	+	7	1141	c.635A>G	c.(634-636)aAt>aGt	p.N212S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	212	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TATCTGGAAAATGGGCAGACC	0.398		NA											False	0	True	X:12704277	0
PLXNC1	10154	broad.mit.edu	37	12	94641698	94641698	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:94641698C>T	ENST00000258526.4	+	13	2657	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	803					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						TATTGTGTGGCGACTTACTGC	0.428		NA											False	0	False	12:94641698	0
MOK	5891	broad.mit.edu	37	14	102698927	102698927	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:102698927C>T	ENST00000361847.2	-	9	1042	c.811G>A	c.(811-813)Gat>Aat	p.D271N	MOK_ENST00000561150.1_Silent_p.P3P|MOK_ENST00000522534.1_Silent_p.P3P|MOK_ENST00000517966.1_Silent_p.P3P|MOK_ENST00000522867.1_Silent_p.P3P|MOK_ENST00000522874.1_Missense_Mutation_p.D270N|MOK_ENST00000523231.1_Silent_p.P3P|MOK_ENST00000524214.1_Missense_Mutation_p.D241N|MOK_ENST00000524370.1_Silent_p.P3P|MOK_ENST00000519058.1_Silent_p.P3P|MOK_ENST00000520266.1_Intron|MOK_ENST00000193029.6_Missense_Mutation_p.D37N	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	271	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.D271N(1)			NA						ATTCTCTCATCGGGATCATAG	0.542		NA											False	0	True	14:102698927	0
F8	2157	broad.mit.edu	37	X	154134766	154134766	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:154134766G>A	ENST00000360256.4	-	15	5502	c.5302C>T	c.(5302-5304)Cgt>Tgt	p.R1768C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1768	F5/8 type A 3.|Plastocyanin-like 5.		R -> H (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTTCTCCACGGTATAAGGGC	0.423		NA											False	0	False	X:154134766	0
CDH18	1016	broad.mit.edu	37	5	19838947	19838947	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:19838947C>T	ENST00000507958.1	-	5	1139	c.149G>A	c.(148-150)cGt>cAt	p.R50H	CDH18_ENST00000382275.1_Missense_Mutation_p.R50H|CDH18_ENST00000506372.1_Missense_Mutation_p.R50H|CDH18_ENST00000274170.4_Missense_Mutation_p.R50H|CDH18_ENST00000511273.1_Missense_Mutation_p.R50H|CDH18_ENST00000502796.1_Missense_Mutation_p.R50H			Q13634	CAD18_HUMAN	cadherin 18, type 2	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTTTTGGGACGATGATGGAC	0.418		NA											False	0	False	5:19838947	0
MTOR	2475	broad.mit.edu	37	1	11193143	11193143	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:11193143C>G	ENST00000361445.4	-	38	5434	c.5358G>C	c.(5356-5358)tgG>tgC	p.W1786C	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1786	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCACCTTGTACCAGCTGCGGT	0.577		NA											False	0	False	1:11193143	0
CHAMP1	283489	broad.mit.edu	37	13	115090249	115090249	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr13:115090249C>T	ENST00000361283.1	+	3	1241	c.932C>T	c.(931-933)tCt>tTt	p.S311F		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	311	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding				NA						TCACCAGGCTCTTGGAAACCA	0.582		NA											False	0	False	13:115090249	0
PARD3	56288	broad.mit.edu	37	10	34663857	34663857	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:34663857C>T	ENST00000374789.3	-	11	1938	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	PARD3_ENST00000374794.3_Missense_Mutation_p.G494E|PARD3_ENST00000545693.1_Missense_Mutation_p.G538E|PARD3_ENST00000340077.5_Missense_Mutation_p.G538E|PARD3_ENST00000350537.4_Missense_Mutation_p.G538E|PARD3_ENST00000374788.3_Missense_Mutation_p.G538E|PARD3_ENST00000374790.3_Missense_Mutation_p.G494E|PARD3_ENST00000374776.1_Missense_Mutation_p.G538E|PARD3_ENST00000544292.1_Missense_Mutation_p.G268E|PARD3_ENST00000374773.1_Missense_Mutation_p.G538E|PARD3_ENST00000545260.1_Missense_Mutation_p.G494E|PARD3_ENST00000346874.4_Missense_Mutation_p.G538E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	538	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCTCACAGTTCCTTCCATCTT	0.438		NA											False	0	True	10:34663857	0
TMLHE	55217	broad.mit.edu	37	X	154741370	154741370	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:154741370C>T	ENST00000334398.3	-	5	867	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	TMLHE_ENST00000369439.4_Missense_Mutation_p.R241Q|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	241					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTCAGTGTGCCGATCCAGAGC	0.413		NA											False	0	False	X:154741370	0
TRRAP	8295	broad.mit.edu	37	7	98533290	98533290	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:98533290C>T	ENST00000359863.4	+	28	4312	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1368					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTACGAATTGCGGCATTAAGT	0.393		NA											False	0	False	7:98533290	0
DHX58	79132	broad.mit.edu	37	17	40260081	40260081	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:40260081C>A	ENST00000251642.3	-	7	946	c.724G>T	c.(724-726)Gac>Tac	p.D242Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	242					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCAGGTGGTCATGGATTTGG	0.557		NA											False	0	False	17:40260081	0
ABCA9	10350	broad.mit.edu	37	17	66979885	66979885	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:66979885G>A	ENST00000340001.4	-	36	4816	c.4605C>T	c.(4603-4605)atC>atT	p.I1535I	ABCA9_ENST00000453985.2_Silent_p.I1497I|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1535					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAGCCTCAGGATCTCTGCAT	0.463		NA											False	0	False	17:66979885	0
SCN9A	6335	broad.mit.edu	37	2	167056341	167056341	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:167056341A>G	ENST00000303354.6	-	27	5151	c.4811T>C	c.(4810-4812)tTt>tCt	p.F1604S	SCN9A_ENST00000375387.4_Missense_Mutation_p.F1604S|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1592S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1603S|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1603						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGGGGACACAAAATACGTTTC	0.423		NA											False	0	True	2:167056341	0
FBXO11	80204	broad.mit.edu	37	2	48066031	48066031	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:48066031C>T	ENST00000403359.3	-	4	626	c.554G>A	c.(553-555)cGc>cAc	p.R185H	FBXO11_ENST00000378314.3_Missense_Mutation_p.R67H|FBXO11_ENST00000316377.4_Missense_Mutation_p.R101H|FBXO11_ENST00000402508.1_Missense_Mutation_p.R101H|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	185	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACTGAAGCGTTTACATAC	0.363		NA	"""Mis, F, D"""		DLBCL								False	0	False	2:48066031	0
BOC	91653	broad.mit.edu	37	3	112998688	112998688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:112998688C>T	ENST00000495514.1	+	13	2742	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	BOC_ENST00000273395.4_Nonsense_Mutation_p.R681*|BOC_ENST00000355385.3_Nonsense_Mutation_p.R680*			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	680	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTACAAGTTTCGAGTCCGGGC	0.622		NA											False	0	True	3:112998688	0
NUP98	4928	broad.mit.edu	37	11	3704600	3704600	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:3704600G>A	ENST00000324932.7	-	30	5168	c.4748C>T	c.(4747-4749)gCt>gTt	p.A1583V	NUP98_ENST00000359171.4_Missense_Mutation_p.A1509V|NUP98_ENST00000355260.3_Missense_Mutation_p.A1509V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1600					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTCTCTTTAGCCCAAGATTC	0.512		NA	T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								False	0	True	11:3704600	0
PLEKHG3	26030	broad.mit.edu	37	14	65210050	65210050	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:65210050C>T	ENST00000247226.7	+	15	3429	c.3121C>T	c.(3121-3123)Cgc>Tgc	p.R1041C	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R602C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R630C|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1097C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1097					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGGGTGGGCCGCTGCCGCAG	0.731		NA											False	0	False	14:65210050	0
XIRP2	129446	broad.mit.edu	37	2	168103840	168103840	+	Missense_Mutation	SNP	A	A	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:168103840A>C	ENST00000409195.1	+	9	6027	c.5938A>C	c.(5938-5940)Aag>Cag	p.K1980Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1980Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1758Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1805					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTTCAGCCAAAGCCAGGTCC	0.468		NA											False	0	True	2:168103840	0
CHAT	1103	broad.mit.edu	37	10	50857681	50857681	+	Splice_Site	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:50857681C>T	ENST00000395562.2	+	11	1733	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*	CHAT_ENST00000337653.2_Splice_Site_p.R504*|CHAT_ENST00000339797.1_Splice_Site_p.R386*|CHAT_ENST00000455728.2_Splice_Site_p.R386*|CHAT_ENST00000351556.3_Splice_Site_p.R386*|CHAT_ENST00000395559.2_Splice_Site_p.R386*	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	504					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AAAACTTCAACGGTAAGGATA	0.602		NA											False	0	False	10:50857681	0
CHST5	23563	broad.mit.edu	37	16	75564081	75564081	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:75564081G>A	ENST00000336257.3	-	3	1596	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	CHST5_ENST00000541075.1_Silent_p.L74L|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	68					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CACGAGGACAGCACCAGCACG	0.662		NA											False	0	True	16:75564081	0
ABCA9	10350	broad.mit.edu	37	17	66979974	66979974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:66979974G>A	ENST00000340001.4	-	36	4727	c.4516C>T	c.(4516-4518)Caa>Taa	p.Q1506*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.Q1468*|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1506	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCAGGTGTTGGATGGAACCA	0.448		NA											False	0	True	17:66979974	0
LSR	51599	broad.mit.edu	37	19	35753531	35753531	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:35753531G>A	ENST00000602122.1	+	4	1288	c.801G>A	c.(799-801)ccG>ccA	p.P267P	LSR_ENST00000354900.3_Silent_p.P267P|LSR_ENST00000347609.4_Silent_p.P249P|LSR_ENST00000361790.3_Silent_p.P286P|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000427250.1_Intron			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	286					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGTGCTGCCCGCACACTTGCT	0.622		NA											False	0	True	19:35753531	0
FZD10	11211	broad.mit.edu	37	12	130649223	130649223	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:130649223C>A	ENST00000229030.4	+	1	2220	c.1736C>A	c.(1735-1737)aCc>aAc	p.T579N	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	579					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			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)		CAGTCGCCCACCTGCGTGTGA	0.527		NA											False	0	False	12:130649223	0
ALS2CR12	130540	broad.mit.edu	37	2	202172323	202172323	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:202172323G>A	ENST00000405148.2	-	11	1241	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000286190.5_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	266					regulation of GTPase activity		protein binding	p.F266F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383		NA											False	0	False	2:202172323	0
DHX36	170506	broad.mit.edu	37	3	154018839	154018839	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:154018839T>A	ENST00000496811.1	-	10	1375	c.1295A>T	c.(1294-1296)aAa>aTa	p.K432I	DHX36_ENST00000329463.5_Missense_Mutation_p.K432I|DHX36_ENST00000308361.6_Missense_Mutation_p.K432I|DHX36_ENST00000544526.1_Missense_Mutation_p.K432I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	432						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTTCTTCTTTTTCTTGTCT	0.353		NA											False	0	True	3:154018839	0
DSC1	1823	broad.mit.edu	37	18	28710559	28710559	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr18:28710559C>G	ENST00000257198.5	-	16	2864	c.2603G>C	c.(2602-2604)cGg>cCg	p.R868P	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	868					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTCTTCCTGCCGATCGCTGCA	0.438		NA											False	0	False	18:28710559	0
ATF4P4	0	broad.mit.edu	37	11	113661000	113661000	+	RNA	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:113661000G>A	ENST00000393544.2	+	0	1048										NA											NA						AGACACCTTCGAATTAAGCAC	0.572		NA											False	0	False	11:113661000	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654596	31654596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr21:31654596G>A	ENST00000340345.4	-	1	680	c.655C>T	c.(655-657)Cga>Tga	p.R219*		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	219	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CTCAGTGGTCGGCAGCTCGTA	0.443		NA											False	0	False	21:31654596	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7577538	0
IL17C	27189	broad.mit.edu	37	16	88706390	88706390	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:88706390G>A	ENST00000244241.4	+	3	553	c.504G>A	c.(502-504)tcG>tcA	p.S168S		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	168					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCGACGGCTCGGGGCTCCCCA	0.716		NA											False	0	True	16:88706390	0
MYCN	4613	broad.mit.edu	37	2	16086019	16086019	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:16086019T>A	ENST00000281043.3	+	3	1492	c.1195T>A	c.(1195-1197)Tcc>Acc	p.S399T		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	399	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CGACCTTCGGTCCAGCTTTCT	0.562		NA	A		neuroblastoma								False	0	False	2:16086019	0
PKD1	5310	broad.mit.edu	37	16	2162878	2162878	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:2162878G>A	ENST00000262304.4	-	13	3280	c.3072C>T	c.(3070-3072)gtC>gtT	p.V1024V	PKD1_ENST00000423118.1_Silent_p.V1024V|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1024	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCACTGTGGAGACCTGCAGAC	0.642		NA											False	0	False	16:2162878	0
CASC3	22794	broad.mit.edu	37	17	38320039	38320039	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:38320039C>T	ENST00000264645.7	+	7	1317	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	364					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GATCCATCTCCAGAAGCAGAT	0.587		NA											False	0	False	17:38320039	0
C2CD2L	9854	broad.mit.edu	37	11	118982297	118982297	+	Missense_Mutation	SNP	C	C	A	rs140133210		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:118982297C>A	ENST00000336702.3	+	7	1336	c.977C>A	c.(976-978)gCg>gAg	p.A326E	C2CD2L_ENST00000528586.1_Missense_Mutation_p.A74E	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	326						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ACCAAGCCCGCGAGGGCTGGA	0.562		NA											False	0	False	11:118982297	0
SIX2	10736	broad.mit.edu	37	2	45233480	45233480	+	Silent	SNP	C	C	T	rs146943650	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:45233480C>T	ENST00000303077.6	-	2	1024	c.705G>A	c.(703-705)ccG>ccA	p.P235P		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	235						nucleus	sequence-specific DNA binding transcription factor activity	p.P235P(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGGGGGCGGCGGGCTGAGGA	0.706		NA											False	0	True	2:45233480	0
GPC6	10082	broad.mit.edu	37	13	95034762	95034762	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr13:95034762C>T	ENST00000377047.4	+	7	1862	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	416						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ACAGCGGGCACGTCCAACGAG	0.537		NA											False	0	False	13:95034762	0
USP9X	8239	broad.mit.edu	37	X	41029282	41029282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:41029282C>T	ENST00000324545.8	+	19	3304	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R891*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	NA					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTGTAGTTCGATTTCCAAA	0.408		NA											False	0	False	X:41029282	0
SRSF1	6426	broad.mit.edu	37	17	56083794	56083794	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:56083794G>C	ENST00000582730.2	-	2	412	c.289C>G	c.(289-291)Cga>Gga	p.R97G	SRSF1_ENST00000258962.4_Missense_Mutation_p.R97G|SRSF1_ENST00000584773.1_Missense_Mutation_p.R97G|SRSF1_ENST00000585096.1_Intron	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	97	Gly-rich (hinge region).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGCCGCCTCGGCCTGTTCCA	0.652		NA											False	0	False	17:56083794	0
ITIH3	3699	broad.mit.edu	37	3	52829637	52829637	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:52829637G>A	ENST00000449956.2	+	2	118	c.112G>A	c.(112-114)Ggg>Agg	p.G38R	ITIH3_ENST00000416872.2_Missense_Mutation_p.G38R	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	38	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTCCCGGAAGGGGTAAGAAC	0.567		NA											False	0	True	3:52829637	0
RP11-337C18.8	0	broad.mit.edu	37	1	146651096	146651096	+	RNA	SNP	G	G	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:146651096G>C	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA						NA											NA						GAAATATGAAGGTGGCCATGA	0.403		NA											False	0	False	1:146651096	0
TRIM17	51127	broad.mit.edu	37	1	228596786	228596786	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:228596786C>T	ENST00000456946.2	-	6	1345	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GAACCCCCCCCATTGGTGGCT	0.577		NA											False	0	True	1:228596786	0
LRP1B	53353	broad.mit.edu	37	2	141533746	141533746	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:141533746G>A	ENST00000389484.3	-	33	6392	c.5421C>T	c.(5419-5421)gaC>gaT	p.D1807D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1807					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTTCTTCCGTCTCTTTTGC	0.383		NA								TSP Lung(27;0.18)			False	0	False	2:141533746	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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
MATR3	9782	broad.mit.edu	37	5	138643724	138643724	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:138643724G>A	ENST00000394800.2	+	6	1169	c.620G>A	c.(619-621)cGt>cAt	p.R207H	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.R207H|MATR3_ENST00000510056.1_Missense_Mutation_p.R207H|MATR3_ENST00000509990.1_Missense_Mutation_p.R207H|MATR3_ENST00000394805.3_Missense_Mutation_p.R207H|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.R207H			P43243	MATR3_HUMAN	matrin 3	207						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGGAAGTCGTTCTCAAGAA	0.403		NA											False	0	False	5:138643724	0
ZNF273	10793	broad.mit.edu	37	7	64388822	64388822	+	Silent	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:64388822A>G	ENST00000476120.1	+	4	1187	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	ZNF273_ENST00000319636.5_Silent_p.K307K|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K372K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTGGAGAGAAACCCTACAAAT	0.383		NA											False	0	True	7:64388822	0
NRK	203447	broad.mit.edu	37	X	105150491	105150491	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:105150491C>G	ENST00000428173.2	+	11	1233	c.930C>G	c.(928-930)caC>caG	p.H310Q	NRK_ENST00000243300.9_Missense_Mutation_p.H310Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	310	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGCTTCAACACCCATTTGTTC	0.343		NA								HNSCC(51;0.14)			False	0	True	X:105150491	0
TMC3	342125	broad.mit.edu	37	15	81650502	81650502	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:81650502A>G	ENST00000558726.1	-	7	866	c.731T>C	c.(730-732)aTt>aCt	p.I244T	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.I244T|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	244						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTTAAAAGAATGATGAAGCT	0.408		NA											False	0	False	15:81650502	0
ITFG2	55846	broad.mit.edu	37	12	2929953	2929953	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:2929953G>T	ENST00000228799.2	+	6	749	c.610G>T	c.(610-612)Ggt>Tgt	p.G204C	ITFG2_ENST00000419778.2_Missense_Mutation_p.G27C|ITFG2_ENST00000542548.1_Missense_Mutation_p.G92C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	204										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTCTCAGCCAGGTTGTGCGTA	0.562		NA											False	0	False	12:2929953	0
LRRC37B	114659	broad.mit.edu	37	17	30374829	30374829	+	Silent	SNP	A	A	G			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:30374829A>G	ENST00000327564.7	+	9	2434	c.2373A>G	c.(2371-2373)ttA>ttG	p.L791L	LRRC37B_ENST00000394713.3_Silent_p.L713L|LRRC37B_ENST00000341671.7_Silent_p.L764L|LRRC37B_ENST00000543378.2_Silent_p.L682L|LRRC37B_ENST00000584368.1_Silent_p.L725L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	764						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGAAGATGTTACAAGCCCGGA	0.488		NA											False	0	False	17:30374829	0
C19orf57	79173	broad.mit.edu	37	19	14006193	14006193	+	Silent	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:14006193G>A	ENST00000454313.1	-	3	256	c.198C>T	c.(196-198)gcC>gcT	p.A66A	C19orf57_ENST00000586783.1_Silent_p.A66A|C19orf57_ENST00000346736.2_Silent_p.A66A|C19orf57_ENST00000591586.1_Silent_p.A66A			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	66					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACCTGGAGACGGCCTTTCCTG	0.562		NA											False	0	False	19:14006193	0
BPTF	2186	broad.mit.edu	37	17	65925454	65925454	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:65925454G>A	ENST00000321892.4	+	19	6440	c.6379G>A	c.(6379-6381)Gtt>Att	p.V2127I	BPTF_ENST00000306378.6_Missense_Mutation_p.V2001I|BPTF_ENST00000424123.3_Missense_Mutation_p.V1988I|BPTF_ENST00000335221.5_Missense_Mutation_p.V2127I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2127					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTAAGGCGTTGTTCAAGT	0.433		NA											False	0	False	17:65925454	0
KIAA1045	23349	broad.mit.edu	37	9	34971545	34971545	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr9:34971545G>A	ENST00000242315.3	+	2	332	c.250G>A	c.(250-252)Gat>Aat	p.D84N	KIAA1045_ENST00000544237.1_Missense_Mutation_p.D84N|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	84							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCGGCTCCGAGATGGGCGCGG	0.632		NA											False	0	False	9:34971545	0
RRAS	6237	broad.mit.edu	37	19	50140130	50140130	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:50140130G>A	ENST00000246792.3	-	3	397	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	99					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		TGGCCAGCACGCATGTACTGC	0.662		NA											False	0	False	19:50140130	0
DHX36	170506	broad.mit.edu	37	3	154018849	154018849	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:154018849T>C	ENST00000496811.1	-	10	1365	c.1285A>G	c.(1285-1287)Aga>Gga	p.R429G	DHX36_ENST00000329463.5_Missense_Mutation_p.R429G|DHX36_ENST00000308361.6_Missense_Mutation_p.R429G|DHX36_ENST00000544526.1_Missense_Mutation_p.R429G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	429						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCTTGTCTATTTACATGC	0.343		NA											False	0	False	3:154018849	0
ABCG4	64137	broad.mit.edu	37	11	119024778	119024778	+	Missense_Mutation	SNP	G	G	A	rs145297995		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:119024778G>A	ENST00000307417.3	+	3	645	c.281G>A	c.(280-282)cGc>cAc	p.R94H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R94H|ABCG4_ENST00000449422.2_Missense_Mutation_p.R94H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	94	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAATTCTGCCGCCGGGAGCTG	0.527		NA											False	0	False	11:119024778	0
CYSLTR1	0	broad.mit.edu	37	X	77528527	77528527	+	Silent	SNP	G	G	T			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:77528527G>T	ENST00000373304.3	-	3	1009	c.717C>A	c.(715-717)acC>acA	p.T239T		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	239					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAAAGGCAGCGGTCACGACCA	0.338		NA											False	0	False	X:77528527	0
DDX43	55510	broad.mit.edu	37	6	74104815	74104815	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:74104815G>A	ENST00000370336.4	+	1	345	c.187G>A	c.(187-189)Gct>Act	p.A63T	DDX43_ENST00000539829.1_Missense_Mutation_p.A63T|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	63						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGCCGTGGCCGCTGGTCACGA	0.617		NA									OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	6:74104815	0
ANKRD28	23243	broad.mit.edu	37	3	15720986	15720986	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:15720986G>A	ENST00000399451.2	-	22	2751	c.2384C>T	c.(2383-2385)gCc>gTc	p.A795V	ANKRD28_ENST00000383777.1_Missense_Mutation_p.A828V|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	795						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TACTTACACGGCACAATGCAA	0.378		NA											False	0	False	3:15720986	0
RYR3	6263	broad.mit.edu	37	15	34130000	34130000	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:34130000C>A	ENST00000389232.4	+	89	11889	c.11819C>A	c.(11818-11820)tCc>tAc	p.S3940Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3935Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3940	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAATTATCTCCAAAAAAGAA	0.398		NA											False	0	False	15:34130000	0
PYGL	5836	broad.mit.edu	37	14	51387719	51387719	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:51387719G>A	ENST00000216392.7	-	6	1059	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	PYGL_ENST00000544180.2_Missense_Mutation_p.R209C|PYGL_ENST00000532462.1_Missense_Mutation_p.R243C	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	243					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GACCAGAGGCGCATGGTGTTG	0.498		NA											False	0	False	14:51387719	0
COL14A1	7373	broad.mit.edu	37	8	121243763	121243763	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr8:121243763G>A	ENST00000297848.3	+	19	2525	c.2255G>A	c.(2254-2256)cGg>cAg	p.R752Q	COL14A1_ENST00000309791.4_Missense_Mutation_p.R752Q|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R657Q|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	752	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTAGCCTGCGGGTAAAATGG	0.438		NA											False	0	True	8:121243763	0
