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
ACTRT2	140625	broad.mit.edu	37	1	2938845	2938845	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:2938845G>T	uc001ajz.3	+	0	800	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	199						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCTGCTCCTGGCCAGCGGCCA	0.617												
TPRG1L	127262	broad.mit.edu	37	1	3545150	3545150	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:3545150G>A	uc001akm.3	+	4	883	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TPRG1L_uc009vlj.3_Missense_Mutation_p.G209S	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	Homo sapiens tumor protein p63 regulated 1-like (TPRG1L), mRNA.	268						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CATGACCAGGGGCAAAATAGG	0.612												
PCSK9	255738	broad.mit.edu	37	1	55523733	55523733	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:55523733C>T	uc001cyf.2	+	7	1567	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	402	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.S401C(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ATGCTGTCTGCCGAGCCGGAG	0.612												
ADAM30	11085	broad.mit.edu	37	1	120436835	120436835	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:120436835G>A	uc001eij.3	-	0	2313	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	709					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATCACTTGCCGGAAAAACACA	0.393												
PDC	5132	broad.mit.edu	37	1	186413476	186413476	+	Missense_Mutation	SNP	T	T	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:186413476T>G	uc001gsa.3	-	3	449	c.376A>C	c.(376-378)Aca>Cca	p.T126P	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.T74P	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	126					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TTTTCAATTGTTTCTAGGAAT	0.398												
RYR2	6262	broad.mit.edu	37	1	237550598	237550598	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:237550598C>T	uc001hyl.1	+	8	714	c.594C>T	c.(592-594)aaC>aaT	p.N198N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	198	MIR 2.				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.G197S(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)			CTTATGGCAACGGCAGCTTAC	0.498												
ZMIZ1	57178	broad.mit.edu	37	10	81066012	81066012	+	Missense_Mutation	SNP	A	A	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:81066012A>C	uc001kaf.2	+	21	3151	c.2579A>C	c.(2578-2580)gAg>gCg	p.E860A	ZMIZ1_uc001kag.2_Missense_Mutation_p.E736A|ZMIZ1_uc010qlq.1_Missense_Mutation_p.E13A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	860					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AATGTCATGGAGATGATCGCA	0.612												
PTEN	5728	broad.mit.edu	37	10	89690814	89690814	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:89690814G>C	uc001kfb.3	+	3	1253	c.221G>C	c.(220-222)aGa>aCa	p.R74T	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	74	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.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.E73fs*25(2)|p.Y27fs*1(2)|p.R74fs*25(2)|p.Y27_N212>Y(2)|p.E73*(1)|p.R74I(1)|p.E73fs*4(1)|p.E73V(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)		TGTGCTGAAAGACATTATGAC	0.313		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)		
PRLHR	2834	broad.mit.edu	37	10	120354176	120354176	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:120354176G>A	uc001ldp.1	-	1	720	c.581C>T	c.(580-582)gCc>gTc	p.A194V	PRLHR_uc021pzm.1_Missense_Mutation_p.A194V	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	194				A -> P (in Ref. 1; AAC50504).	female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GTGCACGGCGGCGGGCAGCGC	0.716												
INPP5A	3632	broad.mit.edu	37	10	134523875	134523875	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:134523875G>C	uc001llp.3	+	7	810	c.562G>C	c.(562-564)Gat>Cat	p.D188H	INPP5A_uc001llo.1_Missense_Mutation_p.D188H|INPP5A_uc001llq.3_Missense_Mutation_p.D140H	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	188					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TCTTTTCCATGATGCTTCCAA	0.562												
BBOX1	8424	broad.mit.edu	37	11	27114719	27114719	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:27114719C>T	uc001mre.1	+	4	707	c.339C>T	c.(337-339)tgC>tgT	p.C113C	BBOX1_uc009yih.1_Silent_p.C113C|BBOX1_uc001mrg.1_Silent_p.C113C|BBOX1_uc021qfd.1_Silent_p.C113C	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	113					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TCACAGAATGCCAATACTGGG	0.393												
SYT13	57586	broad.mit.edu	37	11	45274269	45274269	+	Silent	SNP	C	C	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:45274269C>A	uc001myq.2	-	3	675	c.549G>T	c.(547-549)gtG>gtT	p.V183V	SYT13_uc009yku.1_Silent_p.V39V	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	183	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGTTGCTGGTCACAGCTGCAG	0.587											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCTD14	65987	broad.mit.edu	37	11	77728030	77728030	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:77728030G>A	uc001oyw.4	-	1	402	c.377C>T	c.(376-378)cCa>cTa	p.P126L	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	126	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAAGATCTGTGGCATGTCCTC	0.567												
KDM4D	55693	broad.mit.edu	37	11	94731105	94731105	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:94731105C>T	uc021qow.1	+	0	569	c.569C>T	c.(568-570)gCt>gTt	p.A190V	KDM4D_uc001pfe.3_Missense_Mutation_p.A190V	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	190	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCACGTTTGCTTGGCATACA	0.512												
MLL	4297	broad.mit.edu	37	11	118359396	118359396	+	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:118359396T>C	uc001pta.3	+	10	4423	c.4400T>C	c.(4399-4401)cTg>cCg	p.L1467P	MLL_uc001ptb.3_Missense_Mutation_p.L1467P|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1467					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAGCGCCCTCTGGAGGACCAG	0.433			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""							
OR4D5	219875	broad.mit.edu	37	11	123810626	123810626	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123810626C>T	uc001pzk.1	+	0	303	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGACTCAACTCTTCTTCTTCC	0.507												
OR10S1	219873	broad.mit.edu	37	11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	rs141270826		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123847863C>T	uc001pzm.1	-	0	536	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552												
PATE2	399967	broad.mit.edu	37	11	125648646	125648646	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:125648646C>T	uc001qcu.3	-	0	69	c.23G>A	c.(22-24)gGc>gAc	p.G8D	PATE2_uc010sbj.2_Missense_Mutation_p.G8D	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.	8						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AAAGACTGTGCCCAGGAGAAA	0.522												
ANO2	57101	broad.mit.edu	37	12	5687643	5687643	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:5687643G>C	uc001qnm.2	-	21	2347	c.2275C>G	c.(2275-2277)Ccc>Gcc	p.P759A		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	764						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTGCCAGGGGAAAGGAGGCC	0.537												
MLL2	8085	broad.mit.edu	37	12	49432573	49432573	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:49432573C>G	uc001rta.4	-	33	8566	c.8566G>C	c.(8566-8568)Gga>Cga	p.G2856R		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2856					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTGGAAATTCCCGCCAACGGG	0.597			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
CALCOCO1	57658	broad.mit.edu	37	12	54105903	54105903	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:54105903C>G	uc001sef.3	-	14	2045	c.1901G>C	c.(1900-1902)gGc>gCc	p.G634A	CALCOCO1_uc001see.3_Missense_Mutation_p.G159A|CALCOCO1_uc010som.2_Missense_Mutation_p.G549A|CALCOCO1_uc010son.2_Missense_Mutation_p.G511A|CALCOCO1_uc009znd.3_Missense_Mutation_p.G633A|CALCOCO1_uc001seg.3_Missense_Mutation_p.G459A|CALCOCO1_uc001seh.2_3'UTR	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	634	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGTAAAGCCACTAAGAGA	0.577												
SUOX	6821	broad.mit.edu	37	12	56398139	56398139	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:56398139C>G	uc001six.3	+	5	1292	c.966C>G	c.(964-966)gaC>gaG	p.D322E	SUOX_uc001siy.3_Missense_Mutation_p.D322E|SUOX_uc001siz.3_Missense_Mutation_p.D322E|SUOX_uc001sja.3_Missense_Mutation_p.D322E	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322	Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGGGACTGGACTCAGACCCTA	0.607												
LRRIQ1	84125	broad.mit.edu	37	12	85450952	85450952	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:85450952C>G	uc001tac.3	+	7	2492	c.2381C>G	c.(2380-2382)aCt>aGt	p.T794S	LRRIQ1_uc021rbo.1_Missense_Mutation_p.T672S|LRRIQ1_uc001taa.1_Missense_Mutation_p.T769S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	794										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTTGGGATACTTTACAGCAG	0.313												
ISCU	23479	broad.mit.edu	37	12	108962628	108962628	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:108962628A>G	uc010sxc.2	+	4	545	c.440A>G	c.(439-441)aAg>aGg	p.K147R	ISCU_uc010sxb.1_3'UTR|ISCU_uc001tnc.4_Missense_Mutation_p.K122R|ISCU_uc009zuy.3_3'UTR|ISCU_uc010sxd.2_3'UTR|ISCU_uc021rdk.1_5'Flank	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN	Homo sapiens iron-sulfur cluster scaffold homolog (E. coli) (ISCU), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	147					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GATGCAATCAAGGCCGCCCTG	0.478												
HNF1A	6927	broad.mit.edu	37	12	121426701	121426701	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:121426701G>T	uc001tzg.3	+	1	415	c.392G>T	c.(391-393)cGg>cTg	p.R131L	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.R131L|HNF1A_uc001tzf.3_Missense_Mutation_p.R131L|HNF1A_uc010szn.2_Missense_Mutation_p.R131L|HNF1A_uc021rfa.1_Missense_Mutation_p.R131L|HNF1A_uc021rfb.1_Intron|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	131	Interaction with DNA.		R -> Q (in MODY3; expected to interfere with DNA binding).|R -> W (in MODY3; expected to interfere with DNA binding).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R131W(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCCCACAGCGGGAGGTGGTC	0.622									Hepatic Adenoma, Familial Clustering of			
GOLGA3	2802	broad.mit.edu	37	12	133383767	133383767	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:133383767C>T	uc001ukz.1	-	5	1845	c.1286G>A	c.(1285-1287)aGt>aAt	p.S429N	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S429N|GOLGA3_uc001ulb.3_Missense_Mutation_p.S429N	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	429					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGTTACCTGACTCGCCTCCAG	0.547												
GSX1	219409	broad.mit.edu	37	13	28367747	28367747	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:28367747G>A	uc001urr.1	+	1	505	c.457G>A	c.(457-459)Gct>Act	p.A153T		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Homo sapiens GS homeobox 1 (GSX1), mRNA.	153					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GATGCGCACGGCTTTCACCAG	0.577												
NBEA	26960	broad.mit.edu	37	13	35883701	35883701	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:35883701G>C	uc021rid.1	+	35	6409	c.5875G>C	c.(5875-5877)Gca>Cca	p.A1959P	NBEA_uc021ric.1_Missense_Mutation_p.A1956P|NBEA_uc010abi.3_Missense_Mutation_p.A615P	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1959						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCAGGACTTGCATTTATTGA	0.343												
RNF31	55072	broad.mit.edu	37	14	24620756	24620756	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:24620756G>C	uc001wmn.1	+	9	2049	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	RNF31_uc001wml.1_Missense_Mutation_p.Q449H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q359H|RNF31_uc001wmo.1_Missense_Mutation_p.Q67H|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	600	Interaction with RBCK1.|UBA.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CATTGTTCCAGCACGGAGGTG	0.627												
GPR65	8477	broad.mit.edu	37	14	88477519	88477519	+	Missense_Mutation	SNP	G	G	A	rs142375010	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:88477519G>A	uc021rxh.1	+	0	328	c.328G>A	c.(328-330)Gtt>Att	p.V110I	GPR65_uc001xvv.3_Missense_Mutation_p.V110I	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	110					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.A109V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGCATTGCCGTTGATCGGTA	0.433												
AHNAK2	113146	broad.mit.edu	37	14	105405535	105405535	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:105405535G>A	uc010axc.1	-	6	16373	c.16253C>T	c.(16252-16254)gCc>gTc	p.A5418V	AHNAK2_uc021sen.1_Missense_Mutation_p.A815V|AHNAK2_uc021seo.1_Missense_Mutation_p.A416V|AHNAK2_uc001ypx.2_Missense_Mutation_p.A5318V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5418						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCAATATTGGCCTCTGGACA	0.557												
SECISBP2L	9728	broad.mit.edu	37	15	49284790	49284790	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:49284790C>T	uc001zxe.2	-	17	3221	c.2957G>A	c.(2956-2958)gGc>gAc	p.G986D	SECISBP2L_uc001zxd.2_Missense_Mutation_p.G941D	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	986										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ttcAAGCATGCCAGGTACAAG	0.468												
SLC27A2	11001	broad.mit.edu	37	15	50497504	50497504	+	Missense_Mutation	SNP	G	G	A	rs141444028		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:50497504G>A	uc001zxw.3	+	3	1148	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	SLC27A2_uc010bes.3_Missense_Mutation_p.V253I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V71I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	306					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AAAATACAACGTCACTGTCAT	0.428												
C15orf39	56905	broad.mit.edu	37	15	75501019	75501019	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:75501019C>T	uc002azp.4	+	1	2950	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	C15orf39_uc002azq.4_Missense_Mutation_p.T877M|C15orf39_uc021sqm.1_Missense_Mutation_p.T636M|C15orf39_uc002azr.4_Missense_Mutation_p.T275M	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	877										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CGGCCCACCACGCTGTCGGAG	0.667												
C15orf27	123591	broad.mit.edu	37	15	76484332	76484332	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:76484332G>A	uc002bbq.3	+	8	947	c.792G>A	c.(790-792)gcG>gcA	p.A264A	C15orf27_uc010bkp.3_Silent_p.A80A|C15orf27_uc002bbr.3_Silent_p.A80A|C15orf27_uc002bbs.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	264						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGCTGCGCGCGCACCTGGCGC	0.716												
LOC645752	645752	broad.mit.edu	37	15	78207893	78207893	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:78207893C>T	uc010bky.2	-	17	1869	c.1105_splice	c.e17-1	p.V369_splice	LOC645752_uc010umq.1_Splice_Site_p.V16_splice|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		AGCAGATTCACCTGAAGGGAG	0.622												
ZNF668	79759	broad.mit.edu	37	16	31072650	31072650	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:31072650C>T	uc021tgt.1	-	3	2024	c.1668G>A	c.(1666-1668)cgG>cgA	p.R556R	ZNF668_uc010cag.2_Silent_p.R533R|ZNF668_uc010caf.3_Silent_p.R533R|ZNF668_uc002eao.3_Silent_p.R533R	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	533			R -> Q (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R556R(1)|p.R556Q(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCGCTCGTGCCGACGCAGCA	0.672												
CPNE7	27132	broad.mit.edu	37	16	89655119	89655119	+	Missense_Mutation	SNP	C	C	T	rs145109453		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:89655119C>T	uc002fnp.3	+	11	1319	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	CPNE7_uc002fnq.3_Missense_Mutation_p.R322W	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	397	VWFA.		R -> Q (in dbSNP:rs28568523).		lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TGGAGACCCGCGGAACAGCTG	0.647												
NF1	4763	broad.mit.edu	37	17	29508778	29508778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:29508778C>G	uc002hgg.3	+	6	1088	c.705C>G	c.(703-705)taC>taG	p.Y235*	NF1_uc002hge.2_Nonsense_Mutation_p.Y235*|NF1_uc002hgf.2_Nonsense_Mutation_p.Y235*|NF1_uc002hgh.3_Nonsense_Mutation_p.Y235*|NF1_uc010csn.2_Nonsense_Mutation_p.Y95*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	235					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAACTGTACCAGATCCCAC	0.313			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
SLC4A1	6521	broad.mit.edu	37	17	42330723	42330723	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:42330723G>C	uc002igf.4	-	16	2223	c.2074C>G	c.(2074-2076)Cct>Gct	p.P692A	SLC4A1_uc021tyc.1_Missense_Mutation_p.P326A	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	692	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCGCTCAGGTTTGCTGACA	0.612												
RNF213	57674	broad.mit.edu	37	17	78282912	78282912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:78282912G>T	uc002jyh.2	+	14	2886	c.2743G>T	c.(2743-2745)Gag>Tag	p.E915*	RNF213_uc002jyf.3_Nonsense_Mutation_p.E866*|RNF213_uc021uen.1_Nonsense_Mutation_p.E866*|RNF213_uc002jyg.1_Nonsense_Mutation_p.E597*	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	866										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAGTTTTACGAGCTGCCAGC	0.502												
CNDP2	55748	broad.mit.edu	37	18	72167228	72167228	+	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr18:72167228T>C	uc002llm.2	+	1	279	c.20T>C	c.(19-21)cTg>cCg	p.L7P	CNDP2_uc021ulm.1_Non-coding_Transcript|CNDP2_uc002lln.2_Missense_Mutation_p.L7P	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	7						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTCACTACCCTGTTTAAGTAC	0.458												
ITPKC	80271	broad.mit.edu	37	19	41245286	41245286	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:41245286G>C	uc002oot.3	+	6	1906	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	625						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTCCTCTTCGTGCACGACCA	0.652												
SIGLEC5	8778	broad.mit.edu	37	19	52132644	52132644	+	Missense_Mutation	SNP	T	T	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:52132644T>A	uc002pxe.3	-	2	806	c.667A>T	c.(667-669)Acc>Tcc	p.T223S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	223	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTCTCCGTGGTCACCTGAGCT	0.622												
LILRB3	79168	broad.mit.edu	37	19	54744985	54744985	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:54744985G>T	uc010erh.1	-						LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.S226Y|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.S226Y|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.S226Y|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S226Y|LILRB3_uc010yep.1_Missense_Mutation_p.S226Y|LILRB3_uc010yeq.1_Missense_Mutation_p.S226Y|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.S226Y|LILRB3_uc002qev.1_Missense_Mutation_p.S87Y	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCAGGAGGGAGGGCTTCCT	0.632												
ZNF460	10794	broad.mit.edu	37	19	57802944	57802944	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:57802944C>G	uc002qog.2	+	2	1357	c.1035C>G	c.(1033-1035)ttC>ttG	p.F345L	ZNF460_uc010ygv.1_Missense_Mutation_p.F304L	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAGGCCTTCAACTGCAGGT	0.488												
APOB	338	broad.mit.edu	37	2	21227177	21227177	+	Silent	SNP	G	G	A	rs12713501	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:21227177G>A	uc002red.3	-	27	12179	c.12051C>T	c.(12049-12051)gaC>gaT	p.D4017D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4017					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D4017D(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGAAAAGTCGTCATCTTCAT	0.512												
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	Silent	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	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												
LCT	3938	broad.mit.edu	37	2	136566637	136566637	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:136566637C>T	uc002tuu.1	-	7	3291	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1094	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACGGCGTGGGCTATCCTATAT	0.542												
TTN	7273	broad.mit.edu	37	2	179392028	179392028	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:179392028G>A	uc021vsy.1	-	311	100208	c.99983C>T	c.(99982-99984)cCg>cTg	p.P33328L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P27023L|TTN_uc021vta.1_Missense_Mutation_p.P26956L|TTN_uc021vtb.1_Missense_Mutation_p.P26831L|TTN_uc002umq.3_Missense_Mutation_p.P244L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34255	Ig-like 146.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTTAGGCGGAATTCCTTT	0.378												
ALPP	250	broad.mit.edu	37	2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233245025C>T	uc002vsq.3	+	5	952	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	263			R -> H (in dbSNP:rs2853378).			anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.R263C(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667												
ALPPL2	251	broad.mit.edu	37	2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233273106C>T	uc002vss.4	+	5	831	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	260				H -> R (in Ref. 8; AAH14139).	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCTGGCGAAGCACCAGGTGAT	0.662												
SCAND1	51282	broad.mit.edu	37	20	34542061	34542061	+	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:34542061T>C	uc002xen.2	-	1	380	c.335A>G	c.(334-336)gAg>gGg	p.E112G	SCAND1_uc021wct.1_Missense_Mutation_p.E49G|SCAND1_uc002xep.3_Missense_Mutation_p.E49G|SCAND1_uc002xeo.3_Missense_Mutation_p.E49G	NM_033630	NP_361012	P57086	SCND1_HUMAN	Homo sapiens SCAN domain containing 1 (SCAND1), transcript variant 2, mRNA.	49	SCAN box.				viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity					Breast(12;0.00631)|all_lung(11;0.0233)					ACTGGAAGGCTCAGGGGCAGG	0.711												
DLGAP4	22839	broad.mit.edu	37	20	35060225	35060225	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:35060225G>A	uc002xff.3	+	2	540	c.105G>A	c.(103-105)tcG>tcA	p.S35S	DLGAP4_uc010zvp.2_Silent_p.S35S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	35					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCTGCTGTCGCCCACGGAGG	0.701												
SHANK3	85358	broad.mit.edu	37	22	51160153	51160153	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr22:51160153A>G	uc003bne.1	+	21	3940	c.3940A>G	c.(3940-3942)Agg>Ggg	p.R1314G	SHANK3_uc003bnf.1_Missense_Mutation_p.R761G	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1314										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGAGGAGACCAGGGAGGAGCT	0.677												
DHX30	22907	broad.mit.edu	37	3	47882649	47882649	+	Missense_Mutation	SNP	G	G	A	rs138418233	by1000genomes	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:47882649G>A	uc003cru.3	+	6	1075	c.649G>A	c.(649-651)Gct>Act	p.A217T	DHX30_uc003crs.2_Missense_Mutation_p.A178T|DHX30_uc003crt.3_Missense_Mutation_p.A178T|DHX30_uc010hjr.1_Missense_Mutation_p.A245T	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	217						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGATTCCCACGCTCCACTCAG	0.552												
LAMP3	27074	broad.mit.edu	37	3	182872086	182872086	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:182872086A>G	uc003flh.4	-	1	367	c.143T>C	c.(142-144)aTa>aCa	p.I48T		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	48					cell proliferation	integral to membrane|lysosomal membrane		p.I48T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTTTTTTTATGTCCTGTAC	0.428												
SDHAP2	727956	broad.mit.edu	37	3	195404651	195404651	+	Missense_Mutation	SNP	C	C	G	rs1996904	by1000genomes	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:195404651C>G	uc003fuw.3	+	9	1402	c.208C>G	c.(208-210)Ctt>Gtt	p.L70V	SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		TGTCACGAATCTTGACAAATT	0.418												
UTP3	57050	broad.mit.edu	37	4	71555475	71555475	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:71555475G>A	uc003hfo.3	+	0	1280	c.1081G>A	c.(1081-1083)Gtt>Att	p.V361I		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	361					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGCCTGTGCTGTTACAGATCT	0.363												
ANKRD17	26057	broad.mit.edu	37	4	73951059	73951059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:73951059delC	uc003hgp.3	-	29	7183	c.7066delG	c.(7066-7068)gcafs	p.A2356fs	ANKRD17_uc003hgo.3_Frame_Shift_Del_p.A2243fs|ANKRD17_uc003hgq.3_Frame_Shift_Del_p.A2105fs|ANKRD17_uc003hgr.3_Frame_Shift_Del_p.A2355fs	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2356					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAAGGGGTGCCCCAGGTCCG	0.463												
TRIML1	339976	broad.mit.edu	37	4	189068417	189068417	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:189068417C>T	uc003izm.1	+	5	1413	c.1298C>T	c.(1297-1299)cCg>cTg	p.P433L	TRIML1_uc003izn.1_Missense_Mutation_p.P157L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	433	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TACAGCTTCCCGCAGGCTTCT	0.522												
EGFLAM	133584	broad.mit.edu	37	5	38438444	38438444	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:38438444C>T	uc003jlc.2	+	16	2697	c.2351C>T	c.(2350-2352)gCg>gTg	p.A784V	EGFLAM_uc003jlb.2_Missense_Mutation_p.A784V|EGFLAM_uc003jle.2_Missense_Mutation_p.A550V|EGFLAM_uc003jlf.2_Missense_Mutation_p.A150V	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	784	EGF-like 3.|Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGGAGAATGCGGCCCACCCC	0.547												
IL31RA	133396	broad.mit.edu	37	5	55210699	55210699	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:55210699C>T	uc003jql.3	+	13	1953	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	IL31RA_uc003jqm.3_Silent_p.P568P|IL31RA_uc003jqn.3_Silent_p.P587P|IL31RA_uc021xyq.1_Silent_p.P568P|IL31RA_uc003jqo.3_Silent_p.P445P	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	555					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTGTTGGCCCACCGTTCCCA	0.423												
MAST4	375449	broad.mit.edu	37	5	66462447	66462447	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:66462447C>T	uc021xzk.1	+	28	7748	c.7440C>T	c.(7438-7440)agC>agT	p.S2480S	MAST4_uc003jut.2_Silent_p.S2291S|MAST4_uc003juw.3_Silent_p.S2219S|MAST4_uc003jux.3_Silent_p.S44S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2483						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGCCAGCAGCGACACCTCTT	0.652											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TTC37	9652	broad.mit.edu	37	5	94838702	94838702	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:94838702C>G	uc003klb.3	-	31	3520	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1075							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAGGCTCTCTCATAGGCTGTT	0.368												
FBN2	2201	broad.mit.edu	37	5	127611828	127611828	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:127611828G>T	uc003kuu.3	-	58	7935	c.7496C>A	c.(7495-7497)cCg>cAg	p.P2499Q		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2499	EGF-like 42; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCATGGTTTCGGGGACTGGGA	0.433												
ATP10B	23120	broad.mit.edu	37	5	160047790	160047790	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:160047790C>T	uc003lym.1	-	14	2827	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.3_Silent_p.S218S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	660					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTCTCATCCGAGTCTGTGG	0.572												
NKAPL	222698	broad.mit.edu	37	6	28228340	28228340	+	Silent	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28228340A>G	uc003nkt.3	+	0	1243	c.1191A>G	c.(1189-1191)aaA>aaG	p.K397K	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	397										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAAAGACAAAAGAGAAAGATG	0.368												
ZKSCAN3	80317	broad.mit.edu	37	6	28333384	28333384	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28333384G>A	uc010jrc.3	+	6	1272	c.939G>A	c.(937-939)cgG>cgA	p.R313R	ZKSCAN3_uc003nle.4_Silent_p.R313R|ZKSCAN3_uc003nlf.4_Silent_p.R165R	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	313					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GAGGGAGGCGGCACATCTGCC	0.493												
MDC1	9656	broad.mit.edu	37	6	30671653	30671653	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:30671653G>A	uc003nrg.4	-	9	5747	c.5307C>T	c.(5305-5307)gcC>gcT	p.A1769A	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Silent_p.A1376A	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1769	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GCTCAGGAATGGCTGTAAGGG	0.542								Other conserved DNA damage response genes				
AIF1	199	broad.mit.edu	37	6	31584614	31584614	+	Silent	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:31584614A>G	uc003nuy.3	+	5	455	c.381A>G	c.(379-381)aaA>aaG	p.K127K	AIF1_uc010jsy.3_3'UTR|AIF1_uc003nva.3_Silent_p.K73K	NM_001623	NP_116573	P55008	AIF1_HUMAN	Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA.	127					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						ATGAGGAAAAAGCGAGAGAAA	0.493												
C6orf70	55780	broad.mit.edu	37	6	170156477	170156477	+	Missense_Mutation	SNP	C	C	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:170156477C>A	uc003qxg.1	+	3	392	c.359C>A	c.(358-360)cCt>cAt	p.P120H	C6orf70_uc011ehb.1_5'UTR|C6orf70_uc003qxh.1_Missense_Mutation_p.P120H|C6orf70_uc010kky.1_5'UTR	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	120						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CTACAATCTCCTGCTATTTCT	0.348												
IQCE	23288	broad.mit.edu	37	7	2613077	2613077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:2613077C>A	uc003sml.1	+	5	604	c.420C>A	c.(418-420)taC>taA	p.Y140*	IQCE_uc010ksm.1_Nonsense_Mutation_p.Y140*|IQCE_uc011jvy.1_Nonsense_Mutation_p.Y124*|IQCE_uc011jvz.1_Nonsense_Mutation_p.Y75*|IQCE_uc003smo.4_Nonsense_Mutation_p.Y140*|IQCE_uc003smk.4_Nonsense_Mutation_p.Y124*|IQCE_uc003smn.4_Nonsense_Mutation_p.Y75*	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	140										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CTCCTGTCTACAGAGAAAAAG	0.343												
MMD2	221938	broad.mit.edu	37	7	4947054	4947054	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:4947054G>T	uc003sno.4	-	6	982	c.786C>A	c.(784-786)agC>agA	p.S262R	MMD2_uc003snl.1_Intron|MMD2_uc003snn.4_Missense_Mutation_p.S238R|MMD2_uc010ksq.3_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	262						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCTGCAGGGTGCTGGGCAGAT	0.542												
MLL3	58508	broad.mit.edu	37	7	151945049	151945049	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:151945049C>G	uc003wla.3	-	13	2689	c.2470G>C	c.(2470-2472)Ggc>Cgc	p.G824R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	824					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.I823fs*5(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTACCCATGCCAATTTTTGGA	0.408			N		medulloblastoma							
ARHGEF10	9639	broad.mit.edu	37	8	1871746	1871746	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:1871746C>T	uc003wpr.3	+	19	2550	c.2372C>T	c.(2371-2373)cCc>cTc	p.P791L	ARHGEF10_uc003wpq.1_Missense_Mutation_p.P815L|ARHGEF10_uc003wps.3_Missense_Mutation_p.P753L|ARHGEF10_uc003wpv.3_Missense_Mutation_p.P524L|ARHGEF10_uc010lre.3_Missense_Mutation_p.P471L	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	816					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTACAGCTTCCCGGGAAGCAG	0.423												
CSPP1	79848	broad.mit.edu	37	8	68024278	68024278	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:68024278G>A	uc003xxi.3	+	10	1328	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	CSPP1_uc003xxg.1_Missense_Mutation_p.E425K|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.E398K|CSPP1_uc003xxk.3_Missense_Mutation_p.E104K	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	433						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACAAATGGCTGAGCAACAGAG	0.353												
SULF1	23213	broad.mit.edu	37	8	70512942	70512942	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:70512942G>A	uc003xyg.2	+	7	1400	c.839G>A	c.(838-840)cGc>cAc	p.R280H	SULF1_uc010lza.1_Missense_Mutation_p.R280H|SULF1_uc003xyd.2_Missense_Mutation_p.R280H|SULF1_uc003xye.2_Missense_Mutation_p.R280H|SULF1_uc003xyf.2_Missense_Mutation_p.R280H|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	280					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTCTACAGCGCAAAAGGCTC	0.433												
ZFHX4	79776	broad.mit.edu	37	8	77617628	77617628	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:77617628G>A	uc003yau.2	+	1	1692	c.1305G>A	c.(1303-1305)atG>atA	p.M435I	ZFHX4_uc003yat.1_Missense_Mutation_p.M435I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M435I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	435						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCAAGATGTCAGAGAGCA	0.488										HNSCC(33;0.089)		
RGS22	26166	broad.mit.edu	37	8	101018320	101018320	+	Silent	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:101018320T>C	uc003yjb.1	-	15	2574	c.2379A>G	c.(2377-2379)gaA>gaG	p.E793E	RGS22_uc003yja.1_Silent_p.E612E|RGS22_uc003yjc.1_Silent_p.E781E|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Silent_p.E182E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	793					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTGTCGAGTTTCTTCCACCA	0.373												
ANKS6	203286	broad.mit.edu	37	9	101530526	101530526	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:101530526C>T	uc004ayu.3	-	10	2000	c.1979G>A	c.(1978-1980)aGc>aAc	p.S660N	ANKS6_uc004ayv.2_Missense_Mutation_p.S122N|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.S359N	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	660	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATTGTCTATGCTGCCACCTGA	0.537												
OR13C4	138804	broad.mit.edu	37	9	107288582	107288582	+	Silent	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:107288582T>C	uc011lvn.2	-	0	909	c.909A>G	c.(907-909)gtA>gtG	p.V303V		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V303L(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TAGCAGCTTTTACATCTTTAT	0.373												
SARDH	1757	broad.mit.edu	37	9	136594905	136594905	+	Missense_Mutation	SNP	C	C	G	rs141160856	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:136594905C>G	uc004cep.4	-	5	1031	c.897G>C	c.(895-897)gaG>gaC	p.E299D	SARDH_uc004ceo.3_Missense_Mutation_p.E299D|SARDH_uc011mdo.2_Missense_Mutation_p.E131D|SARDH_uc011mdn.2_Missense_Mutation_p.E299D	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	299					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTCGATGCGCTCGGTGACGA	0.632												
APOO	79135	broad.mit.edu	37	X	23899048	23899048	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:23899048G>A	uc004dax.3	-	1	269	c.31C>T	c.(31-33)Cca>Tca	p.P11S	APOO_uc004day.4_Non-coding_Transcript	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.	11					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AGGCTGGCTGGCCCCACGGAC	0.458												
MAGEB3	4114	broad.mit.edu	37	X	30254384	30254384	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:30254384A>G	uc022bug.1	+	0	343	c.343A>G	c.(343-345)Aca>Gca	p.T115A	MAGEB3_uc004dca.2_Missense_Mutation_p.T115A	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	115	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AATCATGAAGACAAATATGTT	0.403												
CXorf65	158830	broad.mit.edu	37	X	70324148	70324148	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:70324148C>T	uc011mpo.2	-	5	658	c.426_splice	c.e5+1	p.P142_splice	CXorf65_uc011mpp.2_Splice_Site_p.P94_splice	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	142										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CAAGTCTTACCGGGACACTCG	0.517												
STAG2	10735	broad.mit.edu	37	X	123182854	123182854	+	Splice_Site	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:123182854G>T	uc004eua.3	+	10	1224	c.820_splice	c.e10-1	p.L274_splice	STAG2_uc004etz.4_Splice_Site_p.L274_splice|STAG2_uc004eub.3_Splice_Site_p.L274_splice|STAG2_uc004euc.3_Splice_Site_p.L274_splice|STAG2_uc004eud.3_Splice_Site_p.L274_splice|STAG2_uc004eue.3_Splice_Site_p.L274_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	274					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTTTTTACAGCTTCAGGAAA	0.308												
SPANXN4	441525	broad.mit.edu	37	X	142121936	142121936	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:142121936G>A	uc004fbv.4	+	1	301	c.204G>A	c.(202-204)gaG>gaA	p.E68E		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	Homo sapiens SPANX family, member N4 (SPANXN4), mRNA.	68										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAACTGGAGAATAACCAGC	0.413												
BRCC3	79184	broad.mit.edu	37	X	154344437	154344437	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:154344437G>C	uc004fna.3	+	8	837	c.729G>C	c.(727-729)gaG>gaC	p.E243D	BRCC3_uc004fnb.3_Missense_Mutation_p.E218D|BRCC3_uc011mzy.2_Missense_Mutation_p.E219D	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	243					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCAGGAGGAGCAGGATGCGT	0.478												
