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
ACTL8	81569	broad.mit.edu	37	1	18149715	18149715	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:18149715G>A	uc001bat.3	+	1	428	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	71						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GAGCGGGGCCGCATCCTCAAC	0.597												
SPOCD1	90853	broad.mit.edu	37	1	32280067	32280067	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:32280067C>T	uc001bts.1	-	1	926	c.868G>A	c.(868-870)Gct>Act	p.A290T	SPOCD1_uc001btu.3_Missense_Mutation_p.A290T|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	290					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCCCCTGTAGCGGGCAAATAT	0.632												
PTPRF	5792	broad.mit.edu	37	1	44056912	44056912	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:44056912C>T	uc001cjr.3	+	8	1559	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	PTPRF_uc001cjs.3_Missense_Mutation_p.R407C|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	407	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTGCGGGCACGCACGGGAGA	0.701												
CLCA1	1179	broad.mit.edu	37	1	86951220	86951220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:86951220delC	uc001dlt.3	+	5	1190	c.930delC	c.(928-930)gtcfs	p.V310fs	CLCA1_uc001dls.1_Frame_Shift_Del_p.V249fs	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	310	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGTGTTTAGTCCTTGACAAAT	0.448												
SLAMF6	114836	broad.mit.edu	37	1	160465979	160465979	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:160465979C>T	uc001fwe.2	-	1	324	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.R85Q|SLAMF6_uc010pjh.2_Missense_Mutation_p.R36Q|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.R36Q	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	85						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GAAGTTCAGTCGCTTTCCCTG	0.463												
C1orf49	400798	broad.mit.edu	37	1	178514674	178514674	+	Silent	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:178514674G>A	uc001glv.1	+						C1orf220_uc001glx.1_Non-coding_Transcript			Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 3, mRNA.							microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						tgagattgagggaggctgaaa	0.498												
NPHS2	7827	broad.mit.edu	37	1	179520378	179520378	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:179520378A>G	uc001gmq.4	-	7	1167	c.1082T>C	c.(1081-1083)cTc>cCc	p.L361P	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.L293P|AXDND1_uc001gmr.3_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	361					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGGGAAGGGGAGGCTTCCCTG	0.473												
CENPF	1063	broad.mit.edu	37	1	214816089	214816089	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:214816089G>A	uc001hkm.3	+	11	4582	c.4408G>A	c.(4408-4410)Gag>Aag	p.E1470K		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1566	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E1470Q(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGGCTTGGAGGAGGGGCTCGT	0.478												
EPRS	2058	broad.mit.edu	37	1	220154727	220154727	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:220154727T>C	uc001hly.1	-	23	3716	c.3446A>G	c.(3445-3447)aAt>aGt	p.N1149S	RNU5F-1_uc021pjd.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1149	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TACCACCACATTGCACCACTG	0.358												
ARMC4	55130	broad.mit.edu	37	10	28229643	28229643	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:28229643G>T	uc009xky.3	-	12	1933	c.1835C>A	c.(1834-1836)gCa>gAa	p.A612E	ARMC4_uc010qds.2_Missense_Mutation_p.A137E|ARMC4_uc010qdt.2_Missense_Mutation_p.A304E|ARMC4_uc001itz.3_Missense_Mutation_p.A612E|ARMC4_uc010qdu.1_Missense_Mutation_p.A304E	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	612							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGGGCCAGTGCCCCACAGCG	0.517												
PTEN	5728	broad.mit.edu	37	10	89685314	89685314	+	Missense_Mutation	SNP	T	T	A	rs121909226		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:89685314T>A	uc001kfb.3	+	3	1241	c.209_splice	c.e3+1	p.L70_splice	PTEN_uc021pvw.1_Intron	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	70	Phosphatase tensin-type.		L -> P (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.L70P(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATATACAATCTGTAAGTATGT	0.279		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
CDHR5	53841	broad.mit.edu	37	11	618758	618758	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:618758T>C	uc001lql.3	-	12	2068	c.1801A>G	c.(1801-1803)Aca>Gca	p.T601A	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.T601A|CDHR5_uc009ycd.3_Missense_Mutation_p.T595A|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.T435A	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	601	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCTGTGCTGTGCCCCCACCG	0.667												
CD3E	916	broad.mit.edu	37	11	118184559	118184559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:118184559C>T	uc001psq.4	+	6	746	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	164					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCCTGTGACACGAGGAGCGGG	0.597												
ABCC9	10060	broad.mit.edu	37	12	22065805	22065805	+	Splice_Site	DEL	C	C	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:22065805delC	uc001rfh.3	-	6	1031	c.1011_splice	c.e6+1	p.G337_splice	ABCC9_uc001rfi.1_Splice_Site_p.G337_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	337	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGGAACTTACTCCAGTTGTG	0.353												
WNT10B	7480	broad.mit.edu	37	12	49361974	49361974	+	Silent	SNP	G	G	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:49361974G>T	uc001rss.3	-	3	910	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	WNT10B_uc001rst.3_Silent_p.R156R	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	156					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	p.R156Q(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GCCCTCAGCCGATCCTGCTCA	0.667												
EP400	57634	broad.mit.edu	37	12	132471269	132471269	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:132471269C>A	uc001ujn.3	+	5	2292	c.2140C>A	c.(2140-2142)Ccc>Acc	p.P714T	EP400_uc021rgq.1_Missense_Mutation_p.P713T|EP400_uc001ujm.3_Missense_Mutation_p.P714T|EP400_uc001ujj.2_Missense_Mutation_p.P677T|EP400_uc001ujk.3_Missense_Mutation_p.P750T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	750					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCATCTGCCCCCACCAAACC	0.532												
RB1	5925	broad.mit.edu	37	13	48919325	48919332	+	Frame_Shift_Del	DEL	AAATTGGA	AAATTGGA	-	rs66624868		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr13:48919325_48919332delAAATTGGA	uc001vcb.3	+	3	656_663	c.490_497delAAATTGGA	c.(490-498)aaattggaafs	p.K164fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	164					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.E166*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTCTTCAGCAAATTGGAAAGGTAAAGT	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
KIAA0317	9870	broad.mit.edu	37	14	75149998	75149998	+	Splice_Site	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr14:75149998C>T	uc001xqb.3	-	5	986	c.481_splice	c.e5+1	p.G161_splice	KIAA0317_uc010tut.1_Splice_Site	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	161					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		aaagaaCCTACCAGGTTGAAA	0.388												
PGP	283871	broad.mit.edu	37	16	2263929	2263929	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:2263929C>A	uc002cpk.1	-	1	810	c.766G>T	c.(766-768)Gtc>Ttc	p.V256F	C16orf79_uc002cpi.2_5'Flank|C16orf79_uc010bsh.3_5'Flank	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	Homo sapiens phosphoglycolate phosphatase (PGP), mRNA.	256					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CCCACCATGACGGTGCGCTCG	0.632												
CDH5	1003	broad.mit.edu	37	16	66426078	66426078	+	Missense_Mutation	SNP	G	G	A	rs147523967		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:66426078G>A	uc002eom.4	+	6	1165	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	CDH5_uc002eon.1_Missense_Mutation_p.V337I	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	337	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCTTCATCGTCGAGGCCAC	0.547												
PMFBP1	83449	broad.mit.edu	37	16	72153835	72153835	+	Silent	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:72153835G>A	uc002fcc.4	-	19	3109	c.2937C>T	c.(2935-2937)tgC>tgT	p.C979C	PMFBP1_uc002fcd.3_Silent_p.C974C|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.C849C	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	979										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCAAGGTGCCGCACACTTTCT	0.557												
KARS	3735	broad.mit.edu	37	16	75669879	75669879	+	Silent	SNP	C	C	T	rs143003475		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:75669879C>T	uc002feq.3	-	4	648	c.600G>A	c.(598-600)ccG>ccA	p.P200P	KARS_uc002fer.3_Silent_p.P228P|KARS_uc010cgz.3_Silent_p.P44P	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	200					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TGATCTCATACGGAATGATGC	0.448												
OR1G1	8390	broad.mit.edu	37	17	3030338	3030338	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:3030338C>T	uc002fvc.1	-	0	508	c.508G>A	c.(508-510)Gca>Aca	p.A170T		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TCATGGTTTGCGCAGAAGGAC	0.532												
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7577568C>T	uc002gim.2	-	6	907	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)		
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7578235T>C	uc002gim.2	-	5	808	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.3_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.2_Missense_Mutation_p.Y166C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(127)|p.E204*(27)|p.Y205S(26)|p.Y205F(16)|p.Y205D(14)|p.Y205H(8)|p.0?(8)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.Y205N(4)|p.Y205*(4)|p.E204fs*5(3)|p.E204fs*43(3)|p.E204fs*39(2)|p.E204_N210delEYLDDRN(2)|p.E204K(2)|p.E204G(2)|p.E204D(2)|p.E204E(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.E204fs*4(1)|p.Y73S(1)|p.V203_E204>V*(1)|p.Y112S(1)|p.Y205fs*43(1)|p.V203_E204>LV(1)|p.E204A(1)|p.E204V(1)|p.E204Q(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)		GTCATCCAAATACTCCACACG	0.542		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)		
MYH2	4620	broad.mit.edu	37	17	10432765	10432765	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:10432765G>A	uc010coi.3	-	24	3279	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1051C|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1051					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1051C(2)|p.R1051H(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCATGCGAAGTTTCTTT	0.383												
MUC16	94025	broad.mit.edu	37	19	9068025	9068025	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:9068025T>C	uc002mkp.3	-	2	19625	c.19421A>G	c.(19420-19422)cAc>cGc	p.H6474R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6476	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATAGCTGAGTGGGTCCCTGC	0.488												
LDLR	3949	broad.mit.edu	37	19	11224247	11224247	+	Silent	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:11224247T>C	uc002mqk.4	+	9	1582	c.1395T>C	c.(1393-1395)taT>taC	p.Y465Y	LDLR_uc010xlk.2_Silent_p.Y465Y|LDLR_uc010xll.2_Silent_p.Y424Y|LDLR_uc021upc.1_Silent_p.Y344Y|LDLR_uc010xln.2_Silent_p.Y338Y|LDLR_uc010xlo.2_Silent_p.Y297Y|LDLR_uc010xlm.2_Silent_p.Y318Y|LDLR_uc021upd.1_Silent_p.Y202Y	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	465					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TCTCTTCCTATGACACCGTCA	0.622												
PRPF31	26121	broad.mit.edu	37	19	54621969	54621969	+	Missense_Mutation	SNP	T	T	C	rs145505952	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:54621969T>C	uc002qdh.2	+	2	590	c.194T>C	c.(193-195)aTg>aCg	p.M65T	TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.M65T|PRPF31_uc021vbi.1_Missense_Mutation_p.M65T	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	65					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGATTATGATGAAGATTGAG	0.502												
RPL23AP32	56969	broad.mit.edu	37	2	54756737	54756737	+	Silent	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:54756737T>C	uc010yot.1	+	0	379	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		CCACTGAGTTTGCCATGAAGA	0.478												
TGFA	7039	broad.mit.edu	37	2	70742029	70742029	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:70742029G>A	uc002sgs.4	-	1	304	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TGFA_uc010fdq.3_Missense_Mutation_p.A25V|TGFA_uc010fdr.3_Missense_Mutation_p.A25V|TGFA_uc002sgt.4_Missense_Mutation_p.A19V|TGFA_uc002sgu.3_Missense_Mutation_p.A19V|TGFA_uc002sgv.3_Missense_Mutation_p.A19V|TGFA_uc002sgw.3_Missense_Mutation_p.A19V	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	19					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	p.A19V(2)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCTGGCACGCAGCCAACAC	0.597												
THNSL2	55258	broad.mit.edu	37	2	88472749	88472749	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:88472749G>A	uc002ssy.4	+	0	1771	c.80G>A	c.(79-81)gGg>gAg	p.G27E	THNSL2_uc002ssw.4_Missense_Mutation_p.G27E|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_Intron|THNSL2_uc021vkq.1_Missense_Mutation_p.G27E|THNSL2_uc021vkr.1_Missense_Mutation_p.G27E	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	27					threonine biosynthetic process		threonine synthase activity	p.G27V(2)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCACCTGACGGGGGCCTCTTT	0.607												
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	Silent	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:114356239T>C	uc002tkh.3	+	5	775	c.717T>C	c.(715-717)cgT>cgC	p.R239R	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCTTTGCCCGTGTGTCAGACT	0.642												
YSK4	80122	broad.mit.edu	37	2	135745654	135745654	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:135745654T>G	uc002tue.1	-	6	819	c.788A>C	c.(787-789)gAg>gCg	p.E263A	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.E280A	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	263							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCCGGAGGCTCGTTTGATGG	0.443												
ARHGAP15	55843	broad.mit.edu	37	2	143913090	143913090	+	Missense_Mutation	SNP	G	G	A	rs140767178		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:143913090G>A	uc002tvm.4	+	1	182	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	ARHGAP15_uc010zbl.1_Missense_Mutation_p.V11M	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	11					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGATACTTCCGTGGAAACACT	0.363												
SCN7A	6332	broad.mit.edu	37	2	167262458	167262458	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:167262458C>A	uc002udu.2	-	24	4811	c.4681G>T	c.(4681-4683)Gct>Tct	p.A1561S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1561					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGTCCAAAGCAATGAGCTGG	0.453												
INPP5D	3635	broad.mit.edu	37	2	234106832	234106832	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234106832G>A	uc010zmo.2	+	23	2851	c.2698G>A	c.(2698-2700)Gtg>Atg	p.V900M	INPP5D_uc010zmp.2_Missense_Mutation_p.V899M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	929					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCCCCTGCACGTGAAGCAGAC	0.647												
UGT1A1	54658	broad.mit.edu	37	2	234669017	234669017	+	Silent	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234669017G>A	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.G28G|UGT1A1_uc002vvb.3_Silent_p.G28G	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCATGCTGGGAAGATACTGT	0.617												
PPP1R7	5510	broad.mit.edu	37	2	242105797	242105797	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:242105797C>G	uc002wat.1	+	7	769	c.760C>G	c.(760-762)Ctg>Gtg	p.L254V	PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002was.3_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	254						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCTGGTGAACCTGCGGGAGCT	0.552												
C20orf72	92667	broad.mit.edu	37	20	17950509	17950509	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:17950509A>G	uc002wqh.3	+	1	89	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	C20orf72_uc010gco.3_Non-coding_Transcript|C20orf72_uc010gcp.3_5'Flank|SNX5_uc002wqc.3_5'Flank|SNX5_uc002wqd.3_5'Flank|SNX5_uc002wqe.3_5'Flank|SNX5_uc010zrt.1_5'Flank|AK296947_uc021way.1_5'Flank	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	Homo sapiens chromosome 20 open reading frame 72 (C20orf72), mRNA.	3										breast(1)|large_intestine(2)|lung(2)|urinary_tract(2)	7						CTGAATGAAGATGAAGTTATT	0.408												
WFDC8	90199	broad.mit.edu	37	20	44184401	44184401	+	Silent	SNP	G	G	A	rs150100809	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:44184401G>A	uc002xow.3	-	3	463	c.384C>T	c.(382-384)tgC>tgT	p.C128C	WFDC8_uc002xox.3_Silent_p.C128C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	128	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CATTCCCTTCGCAGCCCCTGT	0.468												
MC3R	4159	broad.mit.edu	37	20	54824279	54824279	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:54824279C>T	uc002xxb.2	+	0	492	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	164					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTGCATCTCCCTGGTGGCC	0.557												
KRTAP24-1	643803	broad.mit.edu	37	21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:31654689C>T	uc002ynv.3	-	0	588	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	188						keratin filament	structural molecule activity	p.V188V(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418												
PRDM15	63977	broad.mit.edu	37	21	43281674	43281674	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:43281674G>A	uc002yzq.1	-	6	1000	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GTGCGCACCGGCATGTCCTTC	0.532												
COL6A2	1292	broad.mit.edu	37	21	47546138	47546138	+	Silent	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:47546138C>T	uc002zia.1	+	25	2491	c.2409C>T	c.(2407-2409)gaC>gaT	p.D803D	COL6A2_uc002zhz.1_Silent_p.D803D|COL6A2_uc002zhy.1_Silent_p.D803D|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	803	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACATGGAGGACGTCCTCTGCC	0.647												
RIMBP3	85376	broad.mit.edu	37	22	20458331	20458331	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:20458331C>G	uc002zsd.4	-	0	3456	c.2971G>C	c.(2971-2973)Gtg>Ctg	p.V991L	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ATACGGAGCACCCCTTTGGTC	0.602												
PISD	23761	broad.mit.edu	37	22	32017352	32017352	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:32017352C>T	uc003alm.4	-	4	723	c.665G>A	c.(664-666)cGt>cAt	p.R222H	PISD_uc003alk.2_Missense_Mutation_p.R188H|PISD_uc011alr.1_Missense_Mutation_p.R188H	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	Homo sapiens phosphatidylserine decarboxylase (PISD), mRNA.	222					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGTGCACATACGCGGGCCCAG	0.627											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
CAND2	23066	broad.mit.edu	37	3	12856870	12856870	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:12856870T>A	uc003bxk.2	+	7	1286	c.1237T>A	c.(1237-1239)Tgg>Agg	p.W413R	CAND2_uc003bxj.2_Missense_Mutation_p.W320R	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	413					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCGAAGGGATGGCTGGAGGC	0.607												
LRIG1	26018	broad.mit.edu	37	3	66455660	66455660	+	Silent	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:66455660C>T	uc003dmx.3	-	8	1136	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	LRIG1_uc011bfu.2_5'Flank|LRIG1_uc003dmw.3_Silent_p.T40T|LRIG1_uc010hnz.3_Silent_p.T114T|LRIG1_uc010hoa.3_Silent_p.T374T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	374						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGGCGCCGCTCGTGTCCTCTA	0.612												
GPR15	2838	broad.mit.edu	37	3	98251885	98251885	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:98251885C>G	uc011bgy.2	+	0	1008	c.1008C>G	c.(1006-1008)caC>caG	p.H336Q		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	336						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGATAGTCACCTCACTAAGG	0.483												
PDLIM5	10611	broad.mit.edu	37	4	95575673	95575673	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:95575673G>A	uc003hti.3	+	9	1497	c.1346G>A	c.(1345-1347)tGc>tAc	p.C449Y	PDLIM5_uc011cdx.1_Missense_Mutation_p.C346Y|PDLIM5_uc003htj.3_Missense_Mutation_p.C124Y|PDLIM5_uc003htk.3_Missense_Mutation_p.C478Y|PDLIM5_uc011cdy.2_Missense_Mutation_p.C327Y|PDLIM5_uc003hth.3_Missense_Mutation_p.C340Y|PDLIM5_uc003htl.3_Missense_Mutation_p.C124Y	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	449	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGCGCTCACTGCAAAAATACA	0.448												
ODZ3	55714	broad.mit.edu	37	4	183710311	183710311	+	Silent	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:183710311C>T	uc003ivd.1	+	23	5445	c.5370C>T	c.(5368-5370)gaC>gaT	p.D1790D		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1790					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGATCTATGACGACCACCGTA	0.448												
SLC12A7	10723	broad.mit.edu	37	5	1085433	1085433	+	Silent	SNP	C	C	T	rs112522540		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:1085433C>T	uc003jbu.3	-	6	897	c.831G>A	c.(829-831)gcG>gcA	p.A277A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	277					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGAAGACCAGCGCCAGCTTGT	0.637												
JMY	133746	broad.mit.edu	37	5	78533329	78533329	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:78533329T>C	uc003kfx.4	+	0	1405	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	286					'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)		CGACACTCTGTGTTACCAGCT	0.632												
EGR1	1958	broad.mit.edu	37	5	137801566	137801568	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:137801566_137801568delTGC	uc003ldb.1	+	0	386_388	c.116_118delTGC	c.(115-120)atgctg>atg	p.L41del		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	41					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGGAGATGATGCTGCTGAGCAA	0.670												
MED7	9443	broad.mit.edu	37	5	156566183	156566183	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:156566183A>G	uc010jik.3	-	1	652	c.260T>C	c.(259-261)aTt>aCt	p.I87T	MED7_uc003lwm.4_Missense_Mutation_p.I87T|MED7_uc021ygl.1_Missense_Mutation_p.I87T	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	87					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGAAATTAATAAGGATAGA	0.378												
SQSTM1	8878	broad.mit.edu	37	5	179260112	179260114	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:179260112_179260114delGAG	uc003mkw.4	+	5	930_932	c.835_837delGAG	c.(835-837)gagdel	p.E280del	SQSTM1_uc011dgr.2_In_Frame_Del_p.E196del|SQSTM1_uc011dgs.2_In_Frame_Del_p.E196del|SQSTM1_uc003mkx.3_In_Frame_Del_p.E196del	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	280	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCAGCACAGAGGAGAAGAGCA	0.596												
HSP90AB1	3326	broad.mit.edu	37	6	44217828	44217828	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:44217828G>C	uc003oxa.1	+	4	669	c.585G>C	c.(583-585)gaG>gaC	p.E195D	HSP90AB1_uc011dvr.1_Missense_Mutation_p.E185D|HSP90AB1_uc003oxb.1_Missense_Mutation_p.E195D|HSP90AB1_uc011dvs.1_Missense_Mutation_p.E15D|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	195					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCTAGAAGAGAGGCGGGTCA	0.428												
GSTA4	2941	broad.mit.edu	37	6	52850376	52850376	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:52850376G>A	uc003pbf.3	-	3	295	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	GSTA4_uc003pbd.3_5'UTR	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	49	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	AACAGCAGGTGGTTACCTGAG	0.458												
PHF3	23469	broad.mit.edu	37	6	64416078	64416078	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:64416078A>T	uc003pep.1	+	10	3552	c.3527A>T	c.(3526-3528)cAg>cTg	p.Q1176L	PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L|PHF3_uc011dxs.1_Missense_Mutation_p.Q445L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1176					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGGAGAAACAGGAGTCTCCA	0.378												
EZR	7430	broad.mit.edu	37	6	159210403	159210403	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:159210403T>C	uc003qrt.4	-	2	228	c.13_splice	c.e2-1	p.I5_splice	EZR_uc011efs.2_Splice_Site_p.I5_splice|EZR_uc003qru.4_Splice_Site_p.I5_splice	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	5	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CGGACATTGATCTGAAAAACA	0.428			T	ROS1	NSCLC							
MLLT4	4301	broad.mit.edu	37	6	168343837	168343837	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:168343837A>G	uc021zik.1	+	22	3303	c.2984A>G	c.(2983-2985)tAt>tGt	p.Y995C	MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.2_Missense_Mutation_p.Y1036C|MLLT4_uc021zij.1_Missense_Mutation_p.Y1020C|MLLT4_uc021zim.1_Missense_Mutation_p.Y582C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1036					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAGGAATCTATGTGAAGTCG	0.373			T	MLL	AL							
EGFR	1956	broad.mit.edu	37	7	55249002	55249003	+	In_Frame_Ins	INS	-	-	CAGCGTGGA			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:55249002_55249003insCAGCGTGGA	uc003tqk.3	+	19	2546_2547	c.2300_2301insCAGCGTGGA	c.(2299-2301)gcc>gcCAGCGTGGAc	p.770_771insSVD	EGFR_uc022adm.1_In_Frame_Ins_p.770_771insSVD|EGFR_uc010kzg.2_In_Frame_Ins_p.725_726insSVD|EGFR_uc022adn.1_In_Frame_Ins_p.725_726insSVD|EGFR_uc011kco.2_In_Frame_Ins_p.717_718insSVD|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.5_6insSVD	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	770	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V769_D770insASV(26)|p.D770_N771insSVD(24)|p.D770_N771insG(8)|p.D770>GY(4)|p.V769M(4)|p.A767V(3)|p.V769L(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.N771_P772insN(2)|p.N771_P772insH(2)|p.V769_D770insMASVD(2)|p.S768_V769insVAS(2)|p.N771_P772>SVDNR(2)|p.N771>TH(1)|p.N771>GT(1)|p.V769_D770insCV(1)|p.D770_N771insVDSVDNP(1)|p.D770_N771insGF(1)|p.D770_N771insGD(1)|p.D770_N771>AGG(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.D770_N771insD(1)|p.V769_D770insGSV(1)|p.D770_N771insN(1)|p.V769_D770insDNV(1)|p.S768_V769>IL(1)|p.D770_N771insAPW(1)|p.D770_N771insSVP(1)|p.D770_N771insSVQ(1)|p.D770>GF(1)|p.(768_770)insRCD(1)|p.N771_P772insRH(1)|p.(V769)ins?(1)|p.N771>SH(1)|p.D770_N771insMATP(1)|p.D770_N771insDG(1)|p.S768_V769insAWT(1)|p.N771>GY(1)|p.S752_V769del(1)|p.N771>YG(1)|p.V769_D770insGRV(1)|p.D770_N771insNPH(1)|p.V769_D770insGV(1)|p.N771>GF(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACGTGATGGCCAGCGTGGACA	0.649		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CYP3A7	1577	broad.mit.edu	37	7	99277452	99277452	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:99277452T>C	uc003urq.3	-	0	170	c.68A>G	c.(67-69)tAt>tGt	p.Y23C	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_5'UTR|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.Y23C	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	23					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACTCACAGATAGAGGAGCAC	0.488												
DOCK5	80005	broad.mit.edu	37	8	25232155	25232155	+	Silent	SNP	C	C	T	rs138488512		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr8:25232155C>T	uc003xeg.3	+	36	3938	c.3801C>T	c.(3799-3801)caC>caT	p.H1267H	DOCK5_uc003xeh.1_Silent_p.H981H|DOCK5_uc003xek.3_Silent_p.H56H|DOCK5_uc003xei.3_Silent_p.H837H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1267	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCTCTTGCACGCTGAGCTTC	0.463												
TBC1D2	55357	broad.mit.edu	37	9	101017509	101017509	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr9:101017509G>C	uc011lvb.2	-	0	495	c.315C>G	c.(313-315)gaC>gaG	p.D105E	TBC1D2_uc004ayq.3_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.3_5'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	105	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCCTCAGCGTCCGCCTTAC	0.537												
PLCXD1	55344	broad.mit.edu	37	X	215977	215977	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:215977T>C	uc004cpc.3	+	6	1259	c.947T>C	c.(946-948)cTc>cCc	p.L316P	PLCXD1_uc011mgx.2_Non-coding_Transcript	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.	316					intracellular signal transduction|lipid metabolic process		phospholipase C activity	p.L316L(1)		endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCATCGCGCTCAATCAGAAG	0.602												
WWC3	55841	broad.mit.edu	37	X	10096087	10096087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:10096087G>A	uc004csx.4	+	15	2364	c.2166G>A	c.(2164-2166)tgG>tgA	p.W722*	WWC3_uc010nds.3_Nonsense_Mutation_p.W386*|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	722										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTGCGCTGGCATTCCGTGC	0.562												
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:19369427G>A	uc004czg.4	+	3	465	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_uc004czh.4_Missense_Mutation_p.G145D|PDHA1_uc011mjc.2_Missense_Mutation_p.G114D|PDHA1_uc011mjd.2_Missense_Mutation_p.G107D	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507												
CCNB3	85417	broad.mit.edu	37	X	50051674	50051674	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:50051674G>A	uc004dox.4	+	5	803	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	CCNB3_uc004doy.3_Missense_Mutation_p.E169K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	169					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TATTGAGGATGAAACCCTTAT	0.433												
TBX22	50945	broad.mit.edu	37	X	79281244	79281244	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:79281244C>G	uc010nmg.1	+	4	735	c.601C>G	c.(601-603)Ctc>Gtc	p.L201V	TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	201					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L201I(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGCATGAAACTCACCAACAA	0.537												
ATP11C	286410	broad.mit.edu	37	X	138897124	138897124	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:138897124T>A	uc004faz.3	-	4	447	c.348A>T	c.(346-348)agA>agT	p.R116S	ATP11C_uc004fba.3_Missense_Mutation_p.R116S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	116					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGCTCTGTGTCTCAGACAAT	0.303												
