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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GRHL3	57822	broad.mit.edu	37	1	24676595	24676595	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:24676595C>G	ENST00000361548.4	+	15	1907	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*	GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*|GRHL3_ENST00000350501.5_Nonsense_Mutation_p.Y559*	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	559					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y564*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACAAAGTCTACAAGAAATGCA	0.498													3	51	---	---	---	---
RUNX3	864	broad.mit.edu	37	1	25229113	25229113	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:25229113G>A	ENST00000399916.1	-	6	1228	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R250C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	250	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R264C(1)|p.R250C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGGAAGGAGCGGTCAAACTGG	0.637													5	202	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39798824	39798824	+	Silent	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:39798824A>G	ENST00000564288.1	+	37	7341	c.6564A>G	c.(6562-6564)ggA>ggG	p.G2188G	MACF1_ENST00000289893.4_Silent_p.G628G|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000372915.3_Silent_p.G2193G|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2193					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGAAACTGGAGGATCTCACA	0.358													3	154	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201061108	201061108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:201061108C>A	ENST00000362061.3	-	4	759	c.533G>T	c.(532-534)gGg>gTg	p.G178V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	178					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.G178V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACTAGGCACCCCCGACACCAG	0.612													3	69	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203681221	203681221	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:203681221T>C	ENST00000357681.5	+	13	3288	c.2165T>C	c.(2164-2166)tTa>tCa	p.L722S	ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L722S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L722S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	722					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCCTGTGCTTAGAAGGCAAA	0.547													3	168	---	---	---	---
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular	zinc ion binding	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398													4	76	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179659235	179659235	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:179659235A>T	ENST00000589042.1	-	8	1513	c.1289T>A	c.(1288-1290)gTt>gAt	p.V430D	TTN_ENST00000591111.1_Missense_Mutation_p.V430D|TTN_ENST00000359218.5_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D|TTN_ENST00000360870.5_Missense_Mutation_p.V430D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	430	Ala-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V430D(7)		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)			AACGGCAGCAACAACAGTCGC	0.458													9	151	---	---	---	---
PPARG	5468	broad.mit.edu	37	3	12475528	12475528	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:12475528A>G	ENST00000397026.2	+	9	1719	c.1336A>G	c.(1336-1338)Aca>Gca	p.T446A	PPARG_ENST00000309576.6_Missense_Mutation_p.T440A|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000287820.6_Missense_Mutation_p.T468A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	468	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.T468A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCAGAAAATGACAGACCTCAG	0.522			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						3	101	---	---	---	---
ATG12	9140	broad.mit.edu	37	5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L			O94817	ATG12_HUMAN	autophagy related 12	5					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607													81	92	---	---	---	---
SUN1	23353	broad.mit.edu	37	7	888226	888226	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:888226A>G	ENST00000456758.2	+	9	1004	c.1004A>G	c.(1003-1005)tAt>tGt	p.Y335C	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000413514.2_Missense_Mutation_p.Y25C|SUN1_ENST00000389574.3_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCGAAAGCTATAAGTCAAAA	0.328													65	154	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96653697	96653697	+	Missense_Mutation	SNP	A	A	T	rs149635296	byFrequency	TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:96653697A>T	ENST00000222598.4	-	1	712	c.239T>A	c.(238-240)gTg>gAg	p.V80E	DLX5_ENST00000486603.2_Missense_Mutation_p.V80E|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	80					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V80E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGAGCCGTTCACGCCGTGATA	0.612													22	58	---	---	---	---
RGS20	8601	broad.mit.edu	37	8	54791832	54791832	+	Silent	SNP	A	A	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:54791832A>T	ENST00000297313.3	+	2	272	c.180A>T	c.(178-180)gcA>gcT	p.A60A	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	60					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.A60A(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TCCCGCCTGCACAGCTCCCAG	0.597													88	166	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70498706	70498706	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:70498706A>G	ENST00000260128.4	+	7	1244	c.527A>G	c.(526-528)aAt>aGt	p.N176S	SULF1_ENST00000402687.4_Missense_Mutation_p.N176S|SULF1_ENST00000419716.3_Missense_Mutation_p.N176S|SULF1_ENST00000458141.2_Missense_Mutation_p.N176S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	176					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	p.N176S(1)		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)			GTTTGTCGCAATGGCATCAAA	0.388													16	293	---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94746488	94746488	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:94746488C>G	ENST00000399300.2	-	3	2364	c.2151G>C	c.(2149-2151)caG>caC	p.Q717H	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	717							nucleotide binding|RNA binding	p.Q717H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTGGGGTGACTGCCTGAAGT	0.627													145	235	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124705463	124705463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:124705463G>A	ENST00000262219.6	-	9	806	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ANXA13_ENST00000419625.1_Nonsense_Mutation_p.R206*	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	206					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.R247*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGTGGCTCGTAACTGCTTG	0.448													9	404	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145150822	145150822	+	Silent	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:145150822G>A	ENST00000318911.4	+	2	289	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	72					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.A72A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGGGTGCGGGGCTGGCCA	0.652											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	67	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5968943	5968943	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr9:5968943G>T	ENST00000399933.3	-	3	1287	c.1288C>A	c.(1288-1290)Ctt>Att	p.L430I	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L430I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	430								p.L430I(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGACCCTTAAGTAGCCACACT	0.383													5	32	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905957	5905957	+	Silent	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:5905957C>T	ENST00000316987.2	+	1	457	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I145I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGTATCCTAGCTTCTG	0.453													6	256	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99690380	99690380	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:99690380A>C	ENST00000524871.1	+	4	451	c.161A>C	c.(160-162)tAc>tCc	p.Y54S	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	54					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Y54S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCACGATACAGCAGCCCT	0.428													5	188	---	---	---	---
C11orf70	85016	broad.mit.edu	37	11	101946634	101946634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:101946634G>T	ENST00000434758.2	+	5	494	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*|C11orf70_ENST00000534360.1_Nonstop_Mutation_p.*100L	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343													17	191	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66725033	66725033	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:66725033T>C	ENST00000247815.4	+	12	2829	c.2770T>C	c.(2770-2772)Tat>Cat	p.Y924H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	924					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.Y924H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGCCGAGTGTATGTGATTGC	0.532													43	99	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78562611	78562611	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:78562611A>G	ENST00000397909.2	+	24	5119	c.4946A>G	c.(4945-4947)cAg>cGg	p.Q1649R	NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1649						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCGGCTATTCAGGGAGCACTG	0.373										HNSCC(70;0.22)			3	226	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81647350	81647350	+	Silent	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:81647350T>C	ENST00000548058.1	+	15	2806	c.1896T>C	c.(1894-1896)gcT>gcC	p.A632A	ACSS3_ENST00000261206.3_Silent_p.A631A|ACSS3_ENST00000548324.1_Silent_p.A314A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	632						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGTGGCTGCTTTTCGAAATG	0.433													6	207	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102474613	102474613	+	Silent	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:102474613C>A	ENST00000360184.4	+	29	6080	c.5916C>A	c.(5914-5916)tcC>tcA	p.S1972S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1972	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S1972S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGCTGTGTCCCAGCAGGTGC	0.537													38	51	---	---	---	---
TIMM22	29928	broad.mit.edu	37	17	900589	900589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:900589C>A	ENST00000327158.4	+	1	233	c.207C>A	c.(205-207)tgC>tgA	p.C69*		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)						transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	p.C69*(1)		breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGAAAGCTGCGCTTTCAAGG	0.662													3	47	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5418327	5418327	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:5418327A>G	ENST00000345221.3	-	16	4591	c.4037T>C	c.(4036-4038)aTa>aCa	p.I1346T	NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000577119.1_Missense_Mutation_p.I1316T|NLRP1_ENST00000572272.1_Missense_Mutation_p.I1390T|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T|NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1390					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.I1390T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CACTCGGGCTATCAGCTGCTC	0.582													3	93	---	---	---	---
RAB34	83871	broad.mit.edu	37	17	27042839	27042839	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:27042839C>T	ENST00000395245.3	-	4	919	c.293G>A	c.(292-294)gGc>gAc	p.G98D	RAB34_ENST00000447716.1_Missense_Mutation_p.G155D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D|RAB34_ENST00000395242.2_Missense_Mutation_p.G99D	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	98					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GAAGGGAATGCCCAGCACCTC	0.517													4	315	---	---	---	---
KRT25	147183	broad.mit.edu	37	17	38911399	38911399	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:38911399C>A	ENST00000312150.4	-	1	185	c.125G>T	c.(124-126)gGa>gTa	p.G42V		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	42	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity	p.G42V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GAAGCCACTTCCAATCCCTGA	0.557													5	67	---	---	---	---
HID1	283987	broad.mit.edu	37	17	72949181	72949181	+	Splice_Site	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:72949181C>A	ENST00000425042.2	-	16	2049	c.1972G>T	c.(1972-1974)Gag>Tag	p.E658*		NM_030630.2	NP_085133.1			HID1 domain containing									p.E658*(1)									TGGCTGGGCTCCTGGCCCCCA	0.672													3	13	---	---	---	---
ANKRD30B	374860	broad.mit.edu	37	18	14757889	14757889	+	Silent	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:14757889C>G	ENST00000358984.4	+	5	873	c.693C>G	c.(691-693)gtC>gtG	p.V231V	ANKRD30B_ENST00000447268.2_Silent_p.V231V|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	231								p.V231V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATGTTGACGTCTTTGCTGAAG	0.378													3	65	---	---	---	---
TTC39C	125488	broad.mit.edu	37	18	21663014	21663014	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:21663014T>C	ENST00000317571.3	+	6	1189	c.953T>C	c.(952-954)aTg>aCg	p.M318T	TTC39C_ENST00000304621.6_Missense_Mutation_p.M257T|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	318							binding	p.M257T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCCCTCTTTATGTTTTTCAAG	0.398													71	47	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54760066	54760066	+	Silent	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:54760066G>T	ENST00000450632.1	-	4	545	c.468C>A	c.(466-468)acC>acA	p.T156T	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.T165T|LILRB5_ENST00000449561.2_Silent_p.T165T			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	165	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.T165T(1)|p.T156T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGTACAGGGTCCTGGGGA	0.557													57	105	---	---	---	---
MMP24	10893	broad.mit.edu	37	20	33839802	33839802	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:33839802A>G	ENST00000246186.6	+	3	575	c.490A>G	c.(490-492)Agg>Ggg	p.R164G	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	164					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R164G(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACAGAAGTGGAGGCAAAAACA	0.552													4	121	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9912815	9912815	+	Silent	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:9912815C>T	ENST00000380913.3	+	9	4536	c.4446C>T	c.(4444-4446)ccC>ccT	p.P1482P	SHROOM2_ENST00000418909.2_Silent_p.P317P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1482	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.P1482P(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCTGCAAGCCCAGCGAGTTTG	0.647													3	42	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70471027	70471027	+	Splice_Site	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70471027C>A	ENST00000373998.1	-	4	1476		c.e4+1		ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site|ZMYM3_ENST00000314425.5_Splice_Site|ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site|ZMYM3_ENST00000353904.2_Splice_Site	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3						multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATCCTACTTACTGCTCTCAGT	0.532													65	15	---	---	---	---
OGT	8473	broad.mit.edu	37	X	70767813	70767813	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70767813T>G	ENST00000373719.3	+	5	805	c.588T>G	c.(586-588)aaT>aaG	p.N196K	OGT_ENST00000373701.3_Missense_Mutation_p.N186K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	196					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.N196K(1)|p.N186K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGAGTAATCTTGGCTGTG	0.378													9	189	---	---	---	---
MT-ND5	4540	broad.mit.edu	37	M	12957	12957	+	Silent	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrM:12957T>C	ENST00000361567.2	+	1	621	c.621T>C	c.(619-621)aaT>aaC	p.N207N				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	207					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTAAACGCTAATCCAAGCCTC	0.522													12	1	---	---	---	---
CERS6	253782	broad.mit.edu	37	2	169417720	169417720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:169417720delT	ENST00000305747.6	+	3	882	c.295delT	c.(295-297)ttgfs	p.L99fs	CERS6_ENST00000392687.4_Frame_Shift_Del_p.L99fs	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	99						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGAAAAGAGATTGGAAGGCCT	0.428													14	250	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19026198	19026199	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:19026198_19026199insT	ENST00000379878.3	-	18	1658_1659	c.1417_1418insA	c.(1417-1419)attfs	p.I473fs	GPR64_ENST00000379873.2_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.I486fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.I467fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.I459fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.I475fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.I465fs|GPR64_ENST00000354791.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000340581.3_Intron	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	489					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGAAGAGTAATTGTGCCAATA	0.391													91	23	---	---	---	---
