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
MRTO4	51154	broad.mit.edu	37	1	19584431	19584431	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:19584431T>G	uc001bbs.3	+	5	701	c.446T>G	c.(445-447)aTg>aGg	p.M149R		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	149					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACTCCATGGAGCCACAG	0.597												
SF3A3	10946	broad.mit.edu	37	1	38435290	38435290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:38435290C>A	uc001cci.3	-	12	1247	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*	SF3A3_uc010oik.2_Nonsense_Mutation_p.E322*	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	375					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAAATGATCTCGTTCTCTTCA	0.468												
HMCN1	83872	broad.mit.edu	37	1	186099788	186099788	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:186099788C>T	uc001grq.1	+	84	13418	c.13189C>T	c.(13189-13191)Cgg>Tgg	p.R4397W	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4397	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACAGAATCCGGCAACTGGG	0.507												
DENND1B	163486	broad.mit.edu	37	1	197522236	197522236	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:197522236C>T	uc021pgu.1	-	15	1494	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	DENND1B_uc010ppf.2_Intron|DENND1B_uc001guf.3_Missense_Mutation_p.D386N|DENND1B_uc001gue.3_Missense_Mutation_p.D356N	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	386	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AGTCGACCATCGATAAACTAG	0.303												
RYR2	6262	broad.mit.edu	37	1	237791221	237791221	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:237791221G>A	uc001hyl.1	+	40	6401	c.6281G>A	c.(6280-6282)gGc>gAc	p.G2094D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2094	4 X approximate repeats.				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			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)			CAGTATGACGGCATTGGGGGT	0.557												
KCNK18	338567	broad.mit.edu	37	10	118957199	118957199	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr10:118957199G>T	uc010qsr.2	+	0	200	c.200G>T	c.(199-201)aGa>aTa	p.R67I		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	67						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GAGCTCTGCAGAATCTTGAAC	0.582												
TIAL1	7073	broad.mit.edu	37	10	121341480	121341480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr10:121341480delT	uc001lei.1	-	4	889	c.325delA	c.(325-327)acafs	p.T109fs	TIAL1_uc001leh.1_Frame_Shift_Del_p.T87fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.T126fs|TIAL1_uc001lek.1_5'UTR|TIAL1_uc010qtb.1_5'UTR	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	109	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCTTCTGTTGTAATTTCTGGA	0.348												
KRTAP5-4	387267	broad.mit.edu	37	11	1642817	1642817	+	Silent	SNP	A	A	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:1642817A>G	uc009ycy.1	-	2	489	c.402T>C	c.(400-402)ggT>ggC	p.G134G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	229	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATGACCCACAACCTGAGGAGG	0.612												
KRTAP5-4	387267	broad.mit.edu	37	11	1642827	1642827	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:1642827G>C	uc009ycy.1	-	2	479	c.392C>G	c.(391-393)tCc>tGc	p.S131C	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	226	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCTGAGGAGGAGCAGCAGGG	0.607												
DCHS1	8642	broad.mit.edu	37	11	6647232	6647232	+	Missense_Mutation	SNP	C	C	T	rs149822394		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:6647232C>T	uc001mem.1	-	16	7051	c.6650G>A	c.(6649-6651)cGt>cAt	p.R2217H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2217	Cadherin 21.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACAATCCACGTGCCGGCTG	0.602												
OR8J3	81168	broad.mit.edu	37	11	55904448	55904448	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:55904448C>T	uc010riz.2	-	0	747	c.747G>A	c.(745-747)acG>acA	p.T249T		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T249T(4)|p.T249K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CATAGAAAACCGTGACTGCTA	0.398												
GIF	2694	broad.mit.edu	37	11	59610023	59610023	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:59610023G>T	uc001noi.3	-	3	452	c.404C>A	c.(403-405)cCc>cAc	p.P135H	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	135					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.G134E(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGCTAGACTGGGCCCATAGAA	0.562												
DDX11L11	100887824	broad.mit.edu	37	12	92000	92000	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:92000A>T	uc010sdi.1	-	1	338	c.310T>A	c.(310-312)Ttg>Atg	p.L104M	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GGTCCTGGCAACACTCTGGAC	0.572												
SCNN1A	6337	broad.mit.edu	37	12	6464465	6464465	+	Silent	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:6464465G>A	uc001qnw.3	-	4	1557	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	SCNN1A_uc001qnv.3_Silent_p.G72G|SCNN1A_uc001qnx.3_Silent_p.G372G|SCNN1A_uc010sfb.2_Silent_p.G395G	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	372					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGGTCTCCACGCCAGGCCGCA	0.612												
MYO1A	4640	broad.mit.edu	37	12	57424856	57424856	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:57424856G>C	uc001smw.4	-	22	2692	c.2452C>G	c.(2452-2454)Cag>Gag	p.Q818E	MYO1A_uc010sqz.2_Missense_Mutation_p.Q656E|MYO1A_uc009zpd.3_Missense_Mutation_p.Q818E	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	818					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGCAGCTCCTGATTTGCTGTG	0.517												
NAV3	89795	broad.mit.edu	37	12	78574731	78574731	+	Silent	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:78574731G>A	uc001syp.3	+	29	5771	c.5598G>A	c.(5596-5598)ccG>ccA	p.P1866P	NAV3_uc001syo.3_Silent_p.P1844P|NAV3_uc010sub.2_Silent_p.P1323P|NAV3_uc009zsf.3_Silent_p.P675P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1866						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						CTCGGCCACCGTCAGAATCCT	0.433										HNSCC(70;0.22)		
OR4N2	390429	broad.mit.edu	37	14	20296487	20296487	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:20296487G>A	uc010tkv.2	+	0	880	c.880G>A	c.(880-882)Gtg>Atg	p.V294M		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAACCAGGAAGTGAAAGCTTC	0.383												
CLEC14A	161198	broad.mit.edu	37	14	38723845	38723845	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:38723845G>T	uc001wum.1	-	0	1730	c.1383C>A	c.(1381-1383)aaC>aaA	p.N461K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	461						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCACCCCATTGTTTGTGCAAT	0.607												
PYGL	5836	broad.mit.edu	37	14	51387718	51387718	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:51387718C>T	uc001wyu.3	-	5	855	c.728G>A	c.(727-729)cGc>cAc	p.R243H	PYGL_uc010tqq.2_Missense_Mutation_p.R209H|PYGL_uc010anz.1_Missense_Mutation_p.R46H	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	243					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGACCAGAGGCGCATGGTGTT	0.502												
SMOC1	64093	broad.mit.edu	37	14	70442486	70442486	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:70442486C>A	uc001xlt.2	+	3	715	c.433C>A	c.(433-435)Ccc>Acc	p.P145T	SMOC1_uc001xls.2_Missense_Mutation_p.P145T	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	145	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGATGGGAAGCCCATCAGTGG	0.517												
C15orf2	23742	broad.mit.edu	37	15	24921536	24921536	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr15:24921536C>T	uc001ywo.3	+	0	996	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	174					cell differentiation|multicellular organismal development|spermatogenesis			p.D174D(4)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGGAGGATGACGAGAAAAGGA	0.622												
SEC14L5	9717	broad.mit.edu	37	16	5046964	5046964	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr16:5046964G>A	uc002cye.2	+	7	1069	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	297						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCAGCACCAGGTGGATCTCCT	0.612												
ZFP90	146198	broad.mit.edu	37	16	68596966	68596966	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr16:68596966A>T	uc010cff.3	+	4	568	c.276A>T	c.(274-276)gaA>gaT	p.E92D	ZFP90_uc002ewb.3_5'UTR|ZFP90_uc002ewc.3_5'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.E92D|ZFP90_uc002ewe.3_Missense_Mutation_p.E92D	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	92					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CCAGGCCTGAAGTCAAATCAT	0.423												
GPR179	440435	broad.mit.edu	37	17	36486234	36486234	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr17:36486234T>C	uc002hpz.3	-	10	3239	c.3218A>G	c.(3217-3219)cAc>cGc	p.H1073R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1073						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTGAGGCTGTGGGATTTAGG	0.567												
CDH7	1005	broad.mit.edu	37	18	63476948	63476948	+	Silent	SNP	T	T	C			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr18:63476948T>C	uc002lkb.3	+	2	645	c.219T>C	c.(217-219)tcT>tcC	p.S73S	CDH7_uc002ljz.3_Silent_p.S73S|CDH7_uc002lka.3_Silent_p.S73S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	73	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCTTCACTCTGATGTTGATA	0.378												
NFIC	4782	broad.mit.edu	37	19	3449019	3449019	+	Silent	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:3449019G>A	uc010xhi.2	+	6	1036	c.966G>A	c.(964-966)tcG>tcA	p.S322S	NFIC_uc002lxo.3_Silent_p.S313S|NFIC_uc010xhh.2_Silent_p.S313S|NFIC_uc010xhj.2_Silent_p.S322S|NFIC_uc002lxp.3_Silent_p.S322S	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	322					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAGGCATCTCGTCCCCGGTGA	0.632												
TYK2	7297	broad.mit.edu	37	19	10467283	10467283	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:10467283G>A	uc002moc.4	-	17	2956	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TYK2_uc010dxe.3_Missense_Mutation_p.R675C	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	860	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGGATGGTGCGGAATGATGGC	0.662												
SARS2	54938	broad.mit.edu	37	19	39408365	39408365	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:39408365delG	uc010xup.1	-	13	1326	c.1166_splice	c.e13+1	p.R389_splice	SARS2_uc002ojz.2_Splice_Site_p.R197_splice|SARS2_uc002oka.2_Splice_Site_p.R387_splice|SARS2_uc010xuq.1_Splice_Site_p.R387_splice|SARS2_uc010xur.1_Splice_Site	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	387					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTCCACACCGGAAGTGCAAG	0.637												
ZNF610	162963	broad.mit.edu	37	19	52869863	52869863	+	Missense_Mutation	SNP	G	G	A	rs150692972		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:52869863G>A	uc002pyx.4	+	5	1638	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	ZNF610_uc002pyy.4_Missense_Mutation_p.R411H|ZNF610_uc002pyz.4_Missense_Mutation_p.R368H|ZNF610_uc002pza.3_Missense_Mutation_p.R411H	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTCTTTGGGCGCAAATTATAC	0.423												
KIR2DL1	3802	broad.mit.edu	37	19	55284986	55284986	+	Missense_Mutation	SNP	C	C	T	rs117204680	byFrequency	TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:55284986C>T	uc010erz.1	+	2	310	c.272C>T	c.(271-273)aCg>aTg	p.T91M	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.T91M	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	91	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTCGCATGACGCAAGACCTG	0.532												
VPS54	51542	broad.mit.edu	37	2	64147109	64147109	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:64147109C>T	uc002scq.3	-	14	2235	c.2072G>A	c.(2071-2073)cGc>cAc	p.R691H	VPS54_uc002scp.3_Missense_Mutation_p.R679H|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Missense_Mutation_p.R176H|VPS54_uc010fct.3_Missense_Mutation_p.R538H	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	691					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTGCTTCCAGCGCTCATTGTC	0.393												
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:107049631C>T	uc010ywi.1	-	15	2373	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373												
RGPD4	285190	broad.mit.edu	37	2	108455386	108455386	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:108455386T>A	uc010ywk.2	+	3	453	c.371T>A	c.(370-372)cTt>cAt	p.L124H	RGPD4_uc002tdu.3_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	124					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGCAAAACTTTTCCCAGGA	0.333												
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612												
GTDC1	79712	broad.mit.edu	37	2	144765034	144765034	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:144765034A>T	uc002tvp.3	-	6	869	c.590T>A	c.(589-591)gTt>gAt	p.V197D	GTDC1_uc002tvo.3_Missense_Mutation_p.V197D|GTDC1_uc021vqf.1_Missense_Mutation_p.V197D|GTDC1_uc010fnn.3_Missense_Mutation_p.V197D|GTDC1_uc002tvs.3_Missense_Mutation_p.V165D|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.V197D|GTDC1_uc010fno.3_Missense_Mutation_p.V68D|GTDC1_uc002tvt.2_Missense_Mutation_p.V197D	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	197					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CATGGACAGAACCGCACCGCC	0.403												
ALS2CR11	151254	broad.mit.edu	37	2	202401017	202401017	+	Silent	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:202401017G>A	uc002uyf.3	-	12	1285	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	ALS2CR11_uc002uye.3_Silent_p.G411G|ALS2CR11_uc010fti.3_Intron|ALS2CR11_uc021vvc.1_Silent_p.G411G	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	411										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GTATAGTCAGGCCTTTCTCAG	0.338												
ALS2CR11	151254	broad.mit.edu	37	2	202483675	202483675	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:202483675G>A	uc002uyf.3	-	0	231	c.179C>T	c.(178-180)aCg>aTg	p.T60M	ALS2CR11_uc002uye.3_Missense_Mutation_p.T60M|ALS2CR11_uc010fti.3_Missense_Mutation_p.T60M|ALS2CR11_uc021vvc.1_Missense_Mutation_p.T60M	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	60										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AGGCAGGGCCGTCGTGCCCTG	0.642												
FAM124B	79843	broad.mit.edu	37	2	225266256	225266256	+	Missense_Mutation	SNP	G	G	A	rs149161165	by1000genomes	TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:225266256G>A	uc002vnx.3	-	0	456	c.230C>T	c.(229-231)cCg>cTg	p.P77L	FAM124B_uc002vnw.3_Missense_Mutation_p.P77L	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	77							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ATCCTCTCCCGGGCTTTCGTG	0.572												
ANO7	50636	broad.mit.edu	37	2	242142864	242142864	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:242142864C>T	uc002wax.2	+	8	1105	c.1002C>T	c.(1000-1002)caC>caT	p.H334H		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	334						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCCTGGACCACGTGCGCAGGT	0.692												
APOBEC3B	200315	broad.mit.edu	37	22	39357613	39357613	+	Silent	SNP	C	C	T	rs141631289		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr22:39357613C>T	uc003awn.2	+	2	566	c.396C>T	c.(394-396)taC>taT	p.Y132Y	APOBEC3B_uc011aob.1_Silent_p.Y114Y|APOBEC3B_uc011aoc.1_Silent_p.Y132Y	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.	315					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	p.Y132Y(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TCTATGATTACGACCCCCTAT	0.572												
FRYL	285527	broad.mit.edu	37	4	48569356	48569356	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr4:48569356C>T	uc003gyh.1	-	27	3683	c.3078G>A	c.(3076-3078)ctG>ctA	p.L1026L	FRYL_uc003gyk.3_Silent_p.L1026L|FRYL_uc003gyi.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1026					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTCTGCTTCCAGGAGTTGTC	0.343												
USO1	8615	broad.mit.edu	37	4	76722293	76722293	+	Silent	SNP	A	A	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr4:76722293A>G	uc003hiu.3	+	15	1948	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K	USO1_uc003hiv.3_Silent_p.K484K|USO1_uc003hiw.3_Silent_p.K477K	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	642	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGAGGTGAAAAAAACATTAG	0.294												
CCDC125	202243	broad.mit.edu	37	5	68590723	68590723	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:68590723G>A	uc003jvv.1	-	7	861	c.821C>T	c.(820-822)gCg>gTg	p.A274V	CCDC125_uc003jvx.1_Missense_Mutation_p.A273V|CCDC125_uc003jvy.1_Non-coding_Transcript|CCDC125_uc003jvw.2_Missense_Mutation_p.A149V	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	Homo sapiens coiled-coil domain containing 125 (CCDC125), mRNA.	274						cytoplasm		p.A274V(4)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TCCGAGGACCGCAAGCTTTAA	0.488												
VCAN	1462	broad.mit.edu	37	5	82849273	82849273	+	Missense_Mutation	SNP	G	G	A	rs145625752		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:82849273G>A	uc003kii.3	+	10	9940	c.9584G>A	c.(9583-9585)cGg>cAg	p.R3195Q	VCAN_uc003kij.3_Missense_Mutation_p.R2208Q|VCAN_uc010jau.2_Missense_Mutation_p.R1441Q|VCAN_uc003kik.3_Missense_Mutation_p.R454Q|VCAN_uc003kil.3_Missense_Mutation_p.R1859Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3195	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCAGCTGAACGGGAATGCCGT	0.473												
FAT2	2196	broad.mit.edu	37	5	150922879	150922879	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:150922879C>T	uc003lue.4	-	8	7822	c.7809G>A	c.(7807-7809)ccG>ccA	p.P2603P		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2603	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGATAACCGGAGAGTCTT	0.443												
HK3	3101	broad.mit.edu	37	5	176314737	176314737	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:176314737C>T	uc003mfa.3	-	10	1407	c.1315G>A	c.(1315-1317)Gtc>Atc	p.V439I	HK3_uc003mez.3_5'UTR	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	439	Regulatory.			V -> I (in Ref. 4; AAC50422).	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCAGGACGCTGCAGAAC	0.622												
CARD11	84433	broad.mit.edu	37	7	2963984	2963984	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:2963984C>T	uc003smv.3	-	14	2157	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	608					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAAGGAGTAGCGTTCGTGACT	0.642			Mis		DLBCL							
PON1	5446	broad.mit.edu	37	7	95019499	95019499	+	Silent	SNP	A	A	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:95019499A>G	uc003unt.3	-	2	193	c.168T>C	c.(166-168)gaT>gaC	p.D56D	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Silent_p.D56D	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	56					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TAGGAAGTATATCAATATCTT	0.378												
PLXNA4	91584	broad.mit.edu	37	7	131872361	131872361	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:131872361C>T	uc003vra.4	-	14	3091	c.2862G>A	c.(2860-2862)ctG>ctA	p.L954L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	954	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGAGAGAGTCAGTGTCTGTG	0.617												
SSPO	23145	broad.mit.edu	37	7	149493732	149493732	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:149493732G>T	uc010lpk.3	+	44	6719	c.6719G>T	c.(6718-6720)aGt>aTt	p.S2240I		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2243	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCTGTGCCAGTGGTGAGTGT	0.652												
WDR67	93594	broad.mit.edu	37	8	124109565	124109565	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr8:124109565C>T	uc003ypp.2	+	5	805	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	WDR67_uc011lig.2_Missense_Mutation_p.H239Y|WDR67_uc011lih.2_Missense_Mutation_p.H129Y|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Missense_Mutation_p.H239Y|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	239						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATCATCTTCATTTGTGGTG	0.423												
INPP5E	56623	broad.mit.edu	37	9	139327520	139327520	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr9:139327520C>G	uc004cho.3	-	4	1552	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D	INPP5E_uc010nbm.3_Missense_Mutation_p.E389D	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.	389						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CCGTGGAGCACTCCACCTCTG	0.627												
RLIM	51132	broad.mit.edu	37	X	73811411	73811411	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chrX:73811411C>T	uc004ebu.3	-	4	2029	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	RLIM_uc004ebw.3_Missense_Mutation_p.G580D	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	580					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTTTGTTGCCTTCTGTATA	0.408												
