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
PRAMEF1	65121	broad.mit.edu	37	1	12854536	12854536	+	Missense_Mutation	SNP	C	C	T	rs1063777		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:12854536C>T	uc001auj.2	+	2	863	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	254								p.G253G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCAAGGACGGTTAGTTGC	0.438												
KIF17	57576	broad.mit.edu	37	1	21016727	21016727	+	Silent	SNP	A	A	G	rs143130602		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:21016727A>G	uc001bdr.4	-	6	1453	c.1335T>C	c.(1333-1335)taT>taC	p.Y445Y	KIF17_uc009vpx.3_Missense_Mutation_p.M1T|KIF17_uc001bds.4_Silent_p.Y445Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	445					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCCTGACGTCATATGAGTTGC	0.627												
SLC44A5	204962	broad.mit.edu	37	1	75708631	75708631	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:75708631T>A	uc010oqz.1	-	6	594	c.528A>T	c.(526-528)aaA>aaT	p.K176N	SLC44A5_uc001dgt.2_Missense_Mutation_p.K137N|SLC44A5_uc001dgs.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgr.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgu.3_Missense_Mutation_p.K137N|SLC44A5_uc010ora.2_Missense_Mutation_p.K131N|SLC44A5_uc010orb.2_Missense_Mutation_p.K7N	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	137						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGCTTTTGTCTTTTGTGTACA	0.393												
PLA2G4A	5321	broad.mit.edu	37	1	186863259	186863259	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:186863259G>A	uc001gsc.3	+	4	499	c.294G>A	c.(292-294)atG>atA	p.M98I	PLA2G4A_uc010pos.2_Missense_Mutation_p.M98I	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	98	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATTATGTCATGGATGAAACTC	0.338												
RYR2	6262	broad.mit.edu	37	1	237632425	237632425	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:237632425C>G	uc001hyl.1	+	16	1766	c.1646C>G	c.(1645-1647)gCt>gGt	p.A549G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	549					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.Q548P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAACTGTGCTCAATTTTCT	0.373												
PTEN	5728	broad.mit.edu	37	10	89692800	89692800	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr10:89692800C>T	uc001kfb.3	+	4	1316	c.284C>T	c.(283-285)cCa>cTa	p.P95L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	95	Phosphatase tensin-type.				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.P95L(6)|p.?(5)|p.R55fs*1(5)|p.P95S(4)|p.Y27fs*1(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.N94Y(1)|p.F90_P95>L(1)|p.F56fs*2(1)|p.N94I(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)		GACCATAACCCACCACAGCTA	0.348		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)		
PHRF1	57661	broad.mit.edu	37	11	608268	608268	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:608268C>T	uc001lqe.3	+	13	2943	c.2812C>T	c.(2812-2814)Cca>Tca	p.P938S	PHRF1_uc010qwc.2_Missense_Mutation_p.P937S|PHRF1_uc010qwd.2_Missense_Mutation_p.P936S|PHRF1_uc010qwe.2_Missense_Mutation_p.P934S|PHRF1_uc009ybz.1_Missense_Mutation_p.P728S|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	938							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCATCCCCCCCAGAGCCCTG	0.697												
OR51D1	390038	broad.mit.edu	37	11	4661911	4661911	+	Silent	SNP	T	T	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4661911T>A	uc010qyk.2	+	0	967	c.891T>A	c.(889-891)ccT>ccA	p.P297P		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTACCACCTGTAGTCAACC	0.522												
OR51T1	401665	broad.mit.edu	37	11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	rs151076376	byFrequency	TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4904034G>A	uc010qyp.2	+	0	986	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R329L(2)|p.R302L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483												
SLC17A6	57084	broad.mit.edu	37	11	22399231	22399231	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:22399231T>C	uc001mqk.3	+	11	2107	c.1694T>C	c.(1693-1695)gTa>gCa	p.V565A		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	565					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAGGAATTTGTACAAGGAGAA	0.353												
OR4C15	81309	broad.mit.edu	37	11	55322570	55322570	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:55322570A>T	uc010rig.2	+	0	788	c.788A>T	c.(787-789)aAc>aTc	p.N263I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCATCATAAACTTCTCCTTG	0.478										HNSCC(20;0.049)		
VWF	7450	broad.mit.edu	37	12	6138532	6138532	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:6138532G>A	uc001qnn.1	-	21	3193	c.2943C>T	c.(2941-2943)tcC>tcT	p.S981S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	981	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCAGGACCACGGAGATGCTCA	0.552												
A2M	2	broad.mit.edu	37	12	9225468	9225468	+	Splice_Site	SNP	C	C	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:9225468C>A	uc001qvk.1	-	30	3870	c.3757_splice	c.e30-1	p.D1253_splice	A2M_uc009zgk.1_Splice_Site_p.D1103_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1253					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCACTGTGTCCTGTTAGAGAC	0.478												
YARS2	51067	broad.mit.edu	37	12	32908585	32908585	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:32908585G>C	uc001rli.3	-	0	303	c.224C>G	c.(223-225)aCc>aGc	p.T75S		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	75					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ACAGTAAATGGTTTGGGGAAA	0.577											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CPNE8	144402	broad.mit.edu	37	12	39079420	39079420	+	Splice_Site	SNP	C	C	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:39079420C>A	uc001rls.1	-	16	1228	c.1144_splice	c.e16-1	p.N382_splice	CPNE8_uc001rlr.1_Splice_Site_p.N41_splice	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	382	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GATTCCCATTCTGTAGAAATT	0.383												
ALX1	8092	broad.mit.edu	37	12	85695101	85695101	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:85695101C>T	uc001tae.4	+	3	833	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	277					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P276P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCACGTGCCCCTCAACAATTT	0.473												
ZNF10	7556	broad.mit.edu	37	12	133732883	133732883	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:133732883T>C	uc009zzb.3	+	4	1498	c.1051T>C	c.(1051-1053)Tgt>Cgt	p.C351R	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.C351R	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACTGTACACATGTAATCAGTG	0.413												
RYR3	6263	broad.mit.edu	37	15	33822868	33822868	+	Splice_Site	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr15:33822868G>A	uc001zhi.3	+	4	424	c.354_splice	c.e4+1	p.M118_splice	RYR3_uc010bar.3_Splice_Site_p.M118_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	118	MIR 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)		CAGCGGAATGGTAAGCAGCTC	0.498												
MGRN1	23295	broad.mit.edu	37	16	4731741	4731741	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:4731741G>A	uc002cxa.3	+	12	1459	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	MGRN1_uc002cwz.3_Missense_Mutation_p.R441H|MGRN1_uc010uxo.2_Missense_Mutation_p.R419H|MGRN1_uc010uxp.2_Missense_Mutation_p.R419H|MGRN1_uc010btw.3_Missense_Mutation_p.R420H|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	441					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GACAGCAGCCGCCAGAAGGGC	0.662												
ATP6V0D1	9114	broad.mit.edu	37	16	67472549	67472549	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:67472549C>T	uc010vjo.1	-	8	1161	c.1061G>A	c.(1060-1062)gGt>gAt	p.G354D	ATP6V0D1_uc002ete.1_Missense_Mutation_p.G313D|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.G236D	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	313					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ATAGAAGACACCAAAGTGGAA	0.547												
FA2H	79152	broad.mit.edu	37	16	74750318	74750318	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:74750318C>T	uc002fde.2	-	5	1042	c.966G>A	c.(964-966)tcG>tcA	p.S322S	FA2H_uc002fdd.2_Silent_p.S95S|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	322					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CCTTGTGCGGCGAGCCAAAGT	0.602												
USP6	9098	broad.mit.edu	37	17	5042870	5042870	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:5042870T>A	uc002gau.1	+	21	3629	c.1399T>A	c.(1399-1401)Tgg>Agg	p.W467R	USP6_uc002gav.1_Missense_Mutation_p.W467R|USP6_uc010ckz.1_Missense_Mutation_p.W150R|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	467					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGGGCCCTTGGTTCCCCCA	0.617			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts							
MYH1	4619	broad.mit.edu	37	17	10412802	10412802	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:10412802C>T	uc002gmo.3	-	15	1681	c.1587_splice	c.e15+1	p.K529_splice	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	529	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAAGCCAACCTTCTCGATGA	0.433												
FKBP10	60681	broad.mit.edu	37	17	39969482	39969482	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:39969482C>T	uc002hxv.2	+	0	521	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	LEPREL4_uc002hxt.3_5'Flank|LEPREL4_uc002hxu.3_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	66	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGATTTTGTGCGCTACCACTA	0.627												
PPM1D	8493	broad.mit.edu	37	17	58725371	58725371	+	Silent	SNP	A	A	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:58725371A>T	uc002iyt.2	+	3	1177	c.945A>T	c.(943-945)ggA>ggT	p.G315G	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	315	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGAGTGATGGACTTTGGAATA	0.413												
DNAH17	8632	broad.mit.edu	37	17	76420172	76420172	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:76420172C>T	uc010dhp.2	-	80	13329	c.13204G>A	c.(13204-13206)Gcc>Acc	p.A4402T	PGS1_uc002jvm.3_3'UTR|PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_3'UTR|PGS1_uc002jvo.3_Non-coding_Transcript|DNAH17_uc002jvq.3_Missense_Mutation_p.A687T|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.A4397T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGCATGGCCGGGGTCAGC	0.602												
TRAPPC8	22878	broad.mit.edu	37	18	29435678	29435678	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr18:29435678T>C	uc002kxc.4	-	20	3645	c.3281A>G	c.(3280-3282)gAa>gGa	p.E1094G	TRAPPC8_uc002kxb.4_Missense_Mutation_p.E1040G|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	1094					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.N1093K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCTGCCTTCTTCATTTTCAAG	0.353												
NBAS	51594	broad.mit.edu	37	2	15564456	15564456	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:15564456C>G	uc002rcc.1	-	22	2586	c.2560G>C	c.(2560-2562)Gag>Cag	p.E854Q	NBAS_uc010exl.1_Missense_Mutation_p.E46Q|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	854										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCATAATGCTCTATTTCCTCT	0.502												
XDH	7498	broad.mit.edu	37	2	31588885	31588885	+	Missense_Mutation	SNP	G	G	A	rs140007233		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:31588885G>A	uc002rnv.1	-	21	2492	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	805					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACAGTGCTCCGGGTCTCCTTG	0.527												
DQX1	165545	broad.mit.edu	37	2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:74747143C>T	uc010yrw.2	-	8	1679	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_uc002smc.3_Missense_Mutation_p.R66H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	505						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527												
GDF5	8200	broad.mit.edu	37	20	34022173	34022173	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:34022173C>T	uc010gfc.1	-	1	1281	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	GDF5OS_uc002xcj.3_Missense_Mutation_p.A195V|GDF5_uc002xck.1_Missense_Mutation_p.R347H	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	347					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTTCTTGGTGCGGCCAAACAC	0.632												
LAMA5	3911	broad.mit.edu	37	20	60900398	60900398	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:60900398C>T	uc002ycq.3	-	40	5570	c.5503G>A	c.(5503-5505)Gcc>Acc	p.A1835T	LAMA5_uc021wfw.1_Missense_Mutation_p.A1835T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1835	Laminin EGF-like 16; second part.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGTAGCTGGCGGGGCACAGG	0.672												
OSBPL10	114884	broad.mit.edu	37	3	31921180	31921180	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:31921180A>G	uc021wuu.1	-	1	1095	c.424T>C	c.(424-426)Tac>Cac	p.Y142H	OSBPL10_uc011axf.2_Missense_Mutation_p.Y142H	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	142	PH.				lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTAGCAGAGTACACCACCAGC	0.483												
IMPDH2	3615	broad.mit.edu	37	3	49064276	49064276	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:49064276G>A	uc003cvt.3	-	6	755	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	221	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TCCGGGCAATGATGGCCACAA	0.527												
HCLS1	3059	broad.mit.edu	37	3	121351248	121351248	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:121351248C>T	uc003eeh.4	-	11	1296	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	HCLS1_uc011bjj.2_Missense_Mutation_p.D354N|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	391					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCTGGTTCATCCTCCTGCTCA	0.552												
LEKR1	389170	broad.mit.edu	37	3	156763431	156763431	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:156763431C>T	uc021xgh.1	+	12	2085	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTAGATCAGGCGTGCCCATTC	0.537												
ZNF718	152687	broad.mit.edu	37	4	60030	60030	+	Silent	SNP	A	A	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:60030A>T	uc003fzv.1	+	2	366	c.210A>T	c.(208-210)acA>acT	p.T70T	ZNF718_uc003fzt.4_Silent_p.T70T|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TACATGAGACAGCAGCCAAAC	0.468												
UGT2A3	79799	broad.mit.edu	37	4	69795704	69795704	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:69795704C>A	uc003hef.2	-	5	1442	c.1411G>T	c.(1411-1413)Gcc>Tcc	p.A471S	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	471						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTGCTTGGCTCCTTTGTGG	0.488												
HSPB3	8988	broad.mit.edu	37	5	53751481	53751481	+	Translation_Start_Site	SNP	T	T	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:53751481T>G	uc003jph.2	+	0						NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.						cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				ATTAAGTGATTGCGTCTGGGC	0.488												
MAP3K1	4214	broad.mit.edu	37	5	56179395	56179395	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:56179395G>A	uc003jqw.4	+	14	4209	c.3708G>A	c.(3706-3708)ccG>ccA	p.P1236P		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1236					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAAAACAACCGTATAGAGAAG	0.383												
GPR98	84059	broad.mit.edu	37	5	89985863	89985863	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:89985863G>C	uc003kju.3	+	29	6772	c.6676G>C	c.(6676-6678)Gag>Cag	p.E2226Q	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2226					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTATTATTGAGGCCTCTGA	0.378												
FTMT	94033	broad.mit.edu	37	5	121187869	121187869	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:121187869A>G	uc003kss.3	+	0	220	c.211A>G	c.(211-213)Aac>Gac	p.N71D		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	71	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGTGCGCCAGAACTTCCACCC	0.692												
KCNMB1	3779	broad.mit.edu	37	5	169805757	169805757	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:169805757G>A	uc003maq.1	-	3	927	c.527C>T	c.(526-528)gCc>gTc	p.A176V	KCNIP1_uc003map.3_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	176					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CTTCACCATGGCGATAATGAG	0.612												
DSP	1832	broad.mit.edu	37	6	7581800	7581800	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:7581800G>A	uc003mxp.1	+	22	5656	c.5377G>A	c.(5377-5379)Gag>Aag	p.E1793K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1793	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGCTTTAGAGGTATTCAC	0.383												
MAS1L	116511	broad.mit.edu	37	6	29455047	29455047	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:29455047G>A	uc011dlq.2	-	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	211						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGTAAGTTAGGAAAAGTGATT	0.433												
MDN1	23195	broad.mit.edu	37	6	90360511	90360511	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:90360511G>A	uc003pnn.1	-	95	16087	c.15971C>T	c.(15970-15972)tCa>tTa	p.S5324L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5324					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAACCGTTGTGAAAGAGGCGC	0.493												
TMEM200A	114801	broad.mit.edu	37	6	130762228	130762228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:130762228C>T	uc003qcb.3	+	1	3039	c.661C>T	c.(661-663)Cga>Tga	p.R221*	TMEM200A_uc003qca.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfh.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.3_Nonsense_Mutation_p.R221*|TMEM200A_uc021zfg.1_Nonsense_Mutation_p.R221*	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	221						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGCAGTTTTCGAATGGACAG	0.478												
ZNF727	442319	broad.mit.edu	37	7	63538251	63538252	+	Frame_Shift_Ins	INS	-	-	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:63538251_63538252insG	uc011kdm.2	+	3	1003_1004	c.824_825insG	c.(823-825)aagfs	p.K275fs		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ACTAAACATAAGAGAATTCATA	0.391												
SRCRB4D	136853	broad.mit.edu	37	7	76033672	76033672	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:76033672G>A	uc003ufb.3	-	1	433	c.85C>T	c.(85-87)Cct>Tct	p.P29S	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	29						extracellular region|membrane	scavenger receptor activity	p.P29A(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AGGAAGGGAGGGGCAGCACTC	0.572												
AKR1B15	441282	broad.mit.edu	37	7	134254273	134254273	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:134254273G>A	uc011kpr.2	+	4	726	c.427G>A	c.(427-429)Gga>Aga	p.G143R		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	143							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGGCCACAGGGATTCAAGGT	0.507												
ZC3HAV1	56829	broad.mit.edu	37	7	138794019	138794019	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:138794019C>T	uc003vun.3	-	0	447	c.59G>A	c.(58-60)cGc>cAc	p.R20H	ZC3HAV1_uc003vup.3_Missense_Mutation_p.R20H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	20					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGGGCCATGCGGCCCCCGTG	0.701												
PRSS1	5644	broad.mit.edu	37	7	142459677	142459677	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:142459677G>A	uc003wak.2	+	2	270	c.253G>A	c.(253-255)Gag>Aag	p.E85K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E25K	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	85	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.E85Q(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGAGGGGAATGAGCAGTTCAT	0.547												
POLB	5423	broad.mit.edu	37	8	42220141	42220141	+	Silent	SNP	A	A	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:42220141A>G	uc003xoz.2	+	10	803	c.633A>G	c.(631-633)ttA>ttG	p.L211L	POLB_uc011lcs.2_Silent_p.L57L	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	211					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CAAAACTGTTACATCAGGTTG	0.333								DNA polymerases (catalytic subunits)				
FAM83H	286077	broad.mit.edu	37	8	144808347	144808347	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:144808347C>T	uc003yzk.3	-	4	3353	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1095					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGTCCGAGCGGAAGATGGC	0.697												
TONSL	4796	broad.mit.edu	37	8	145661200	145661200	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:145661200G>A	uc011llg.2	-	16	2631	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	AK298596_uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	872					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTCGGGCACGGGGCCTGCTCT	0.692												
CNTRL	11064	broad.mit.edu	37	9	123912528	123912528	+	Missense_Mutation	SNP	T	T	C	rs145241861	by1000genomes	TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:123912528T>C	uc004bkx.1	+	22	3761	c.3730T>C	c.(3730-3732)Tac>Cac	p.Y1244H	CNTRL_uc004bky.1_Missense_Mutation_p.Y848H|CNTRL_uc004bla.1_Missense_Mutation_p.Y692H|CNTRL_uc010mvo.1_5'UTR|CNTRL_uc004blb.1_5'Flank	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1244	Pro-rich.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TCCTCCTGGATACATGATGTA	0.502												
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:137591840C>T	uc004cfe.3	+	2	745	c.363C>T	c.(361-363)aaC>aaT	p.N121N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587												
SOHLH1	402381	broad.mit.edu	37	9	138586241	138586241	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:138586241G>A	uc010nbe.3	-	6	999	c.938C>T	c.(937-939)tCg>tTg	p.S313L	SOHLH1_uc004cgl.3_Missense_Mutation_p.S313L	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	313					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACCCGGCCACGAGCTGGGACC	0.637