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
IL28RA	163702	broad.mit.edu	37	1	24507335	24507335	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:24507335C>T	uc001bis.3	-	1	95	c.68G>A	c.(67-69)cGt>cAt	p.R23H	IL28RA_uc001bir.3_Missense_Mutation_p.R23H|IL28RA_uc001bit.3_Missense_Mutation_p.R23H|IL28RA_uc001biu.3_Intron|IL28RA_uc001biv.3_Missense_Mutation_p.R23H	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	23	Fibronectin type-III.				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		AGGGGCCAGACGGGGCCTCCC	0.612												
C1orf177	163747	broad.mit.edu	37	1	55273597	55273597	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:55273597A>T	uc001cyb.4	+	3	447	c.393A>T	c.(391-393)aaA>aaT	p.K131N	C1orf177_uc001cya.4_Missense_Mutation_p.K131N	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	131										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACAACCTCAAAGACTTCTTAG	0.547												
CELSR2	1952	broad.mit.edu	37	1	109801473	109801473	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:109801473G>A	uc001dxa.4	+	1	3791	c.3730G>A	c.(3730-3732)Gtg>Atg	p.V1244M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1244	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATGCGCTGCGTGTCGGTGCT	0.692												
MOV10	4343	broad.mit.edu	37	1	113239252	113239252	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:113239252G>A	uc001eck.3	+	14	2252	c.1982_splice	c.e14-1	p.G661_splice	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Splice_Site_p.G661_splice|MOV10_uc001ecm.3_Splice_Site_p.G601_splice	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	661					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGCTTCCCAGGGCTGATGGAA	0.602												
TCHHL1	126637	broad.mit.edu	37	1	152060548	152060548	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152060548G>A	uc001ezo.1	-	1	137	c.72C>T	c.(70-72)aaC>aaT	p.N24N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	24							calcium ion binding	p.N24N(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTTGCCCCGTTACTGTCCT	0.473												
FLG	2312	broad.mit.edu	37	1	152278705	152278705	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152278705C>T	uc001ezu.1	-	2	8693	c.8657G>A	c.(8656-8658)cGc>cAc	p.R2886H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2886	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis			
KPRP	448834	broad.mit.edu	37	1	152733665	152733665	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152733665G>T	uc001fal.1	+	1	1659	c.1601G>T	c.(1600-1602)aGt>aTt	p.S534I	KPRP_uc021ozf.1_Missense_Mutation_p.S534I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	534						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCATCCAGTTACAACCAG	0.582												
DDR2	4921	broad.mit.edu	37	1	162749984	162749984	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:162749984G>A	uc001gcf.3	+	18	2981	c.2516G>A	c.(2515-2517)cGt>cAt	p.R839H	DDR2_uc001gcg.3_Missense_Mutation_p.R839H|AF268386_uc001gch.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	839	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACGAAGAACCGTCCCTCATTC	0.498												
KIFAP3	22920	broad.mit.edu	37	1	170007466	170007466	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:170007466C>T	uc001ggv.3	-	4	753	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	KIFAP3_uc021pep.1_Missense_Mutation_p.R121Q|KIFAP3_uc010ply.2_Missense_Mutation_p.R83Q|KIFAP3_uc001ggw.2_Missense_Mutation_p.R117Q	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	161					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.R161*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAGGATTTCGAGCAAGCTG	0.308												
FAM5B	57795	broad.mit.edu	37	1	177199272	177199272	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:177199272G>A	uc001glf.3	+	1	572	c.260G>A	c.(259-261)aGg>aAg	p.R87K		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	87						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACCAGGTACAGGATTTATAGG	0.612												
FAM13C	220965	broad.mit.edu	37	10	61023889	61023889	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr10:61023889A>G	uc010qif.1	-	8	1112	c.1046T>C	c.(1045-1047)cTg>cCg	p.L349P	FAM13C_uc010qid.2_Missense_Mutation_p.L244P|FAM13C_uc001jkn.3_Missense_Mutation_p.L327P|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.L244P|FAM13C_uc001jkp.3_Missense_Mutation_p.L244P	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	327										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CATCCATTTCAGGACTTCAGG	0.453												
DCHS1	8642	broad.mit.edu	37	11	6655171	6655171	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:6655171C>G	uc001mem.1	-	3	2468	c.2067G>C	c.(2065-2067)gaG>gaC	p.E689D		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	689	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R688L(1)		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)		TGGCAGCATACTCCCGTGGAT	0.557												
WT1	7490	broad.mit.edu	37	11	32450114	32450114	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:32450114G>A	uc001mtn.2	-	1	888	c.698C>T	c.(697-699)tCg>tTg	p.S233L	WT1_uc001mtl.2_Missense_Mutation_p.S21L|WT1_uc001mtm.2_Missense_Mutation_p.S21L|WT1_uc001mto.2_Missense_Mutation_p.S233L|WT1_uc001mtq.2_Missense_Mutation_p.S233L|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	165					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CGCATGGTGCGAGGGCGTGTG	0.632			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome			
SLC22A25	387601	broad.mit.edu	37	11	62948177	62948177	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:62948177C>T	uc001nwr.1	-	5	1025	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.R342H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	342					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTTGGGTATGCGGAGCAATTC	0.383												
ARAP1	116985	broad.mit.edu	37	11	72423533	72423533	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:72423533G>A	uc001osu.3	-	5	1017	c.828C>T	c.(826-828)gaC>gaT	p.D276D	ARAP1_uc001osv.3_Silent_p.D276D|ARAP1_uc001osr.3_Silent_p.D36D|ARAP1_uc001oss.3_Silent_p.D31D|ARAP1_uc009yth.3_Silent_p.D31D|ARAP1_uc010rre.2_Silent_p.D31D	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	276					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCTTGGTCGTCCCCAGACA	0.682												
PRCP	5547	broad.mit.edu	37	11	82564244	82564244	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:82564244A>G	uc001ozs.3	-	2	499	c.386T>C	c.(385-387)cTc>cCc	p.L129P	PRCP_uc001ozr.3_Missense_Mutation_p.L150P	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	129					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACCAAAGGGGAGAGACTCTCC	0.363												
TMEM19	55266	broad.mit.edu	37	12	72092727	72092727	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:72092727G>A	uc001sws.3	+	4	1268	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	TMEM19_uc001swr.1_Missense_Mutation_p.G215S	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	229						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGTCTCCTTGGTGGTACCTT	0.443												
SOCS2	8835	broad.mit.edu	37	12	93968661	93968661	+	Silent	SNP	C	C	T	rs148086876		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:93968661C>T	uc001tcw.1	+	2	893	c.303C>T	c.(301-303)gaC>gaT	p.D101D	SOCS2_uc021rbx.1_Silent_p.D101D|SOCS2_uc001tcy.1_Silent_p.D101D|SOCS2_uc001tcz.3_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	Homo sapiens suppressor of cytokine signaling 2 (SOCS2), mRNA.	101	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AATACCAAGACGGAAAATTCA	0.378												
RIC8B	55188	broad.mit.edu	37	12	107208579	107208579	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:107208579T>G	uc001tlw.3	+	2	363	c.238T>G	c.(238-240)Tta>Gta	p.L80V	RIC8B_uc001tlx.3_Missense_Mutation_p.L80V|RIC8B_uc001tly.3_Missense_Mutation_p.L40V|RIC8B_uc001tlz.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	80					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAAAAAGGTTTTAGTTCCTGT	0.413												
MLXIP	22877	broad.mit.edu	37	12	122613736	122613736	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:122613736G>A	uc001ubq.3	+	3	767	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	MLXIP_uc001ubr.3_5'UTR|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	220	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	p.R220Q(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATTGTGATCCGGGAGTATCAC	0.557												
NUBP1	4682	broad.mit.edu	37	16	10837884	10837884	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr16:10837884G>A	uc002daa.1	+	1	109	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	NUBP1_uc010bum.1_5'UTR|NUBP1_uc002dab.1_Missense_Mutation_p.R29Q	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	29					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CCCAACCAGCGGCTGTGCGCT	0.657												
ANKRD11	29123	broad.mit.edu	37	16	89341552	89341552	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr16:89341552C>T	uc002fmx.1	-	9	7979	c.7518G>A	c.(7516-7518)agG>agA	p.R2506R	ANKRD11_uc002fmy.1_Silent_p.R2506R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2506						nucleus		p.R2506R(2)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTGCTGCCTGAACAGCT	0.662												
C17orf74	201243	broad.mit.edu	37	17	7330635	7330635	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:7330635C>T	uc002ggw.3	+	2	1398	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	442						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCCCCTCCCCCGACCATGTTT	0.647												
PIK3R5	23533	broad.mit.edu	37	17	8792082	8792082	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:8792082G>A	uc002glt.3	-	9	1089	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	PIK3R5_uc010vuz.2_Missense_Mutation_p.A341V|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	341				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATCTCTCTCGGCACAGTGCCC	0.617												
FBXW10	10517	broad.mit.edu	37	17	18651317	18651317	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:18651317C>T	uc002gul.3	+	1	801	c.569C>T	c.(568-570)gCg>gTg	p.A190V	FBXW10_uc002guj.3_Missense_Mutation_p.A190V|FBXW10_uc002guk.3_Missense_Mutation_p.A190V|FBXW10_uc010cqh.2_Missense_Mutation_p.A190V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	190										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCAAGTCTGCGACCTCACAA	0.478												
PIPOX	51268	broad.mit.edu	37	17	27380567	27380567	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:27380567G>C	uc002hdr.1	+	3	940	c.614G>C	c.(613-615)tGg>tCg	p.W205S		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	205					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCAGGTCCTTGGACCAACCAG	0.567												
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:28961033T>G	uc002hfl.3	+	4	727	c.496T>G	c.(496-498)Tat>Gat	p.Y166D	LRRC37BP1_uc010csj.2_Intron|LRRC37BP1_uc010wbq.1_Non-coding_Transcript|LRRC37BP1_uc010csi.2_Non-coding_Transcript					Homo sapiens leucine rich repeat containing 37B pseudogene 1 (LRRC37BP1), non-coding RNA.																		AGTTCCAGGATATGACTATAA	0.264												
SLC35B1	10237	broad.mit.edu	37	17	47780551	47780551	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:47780551T>C	uc002iph.1	-	7	849	c.762_splice	c.e7+1	p.Q254_splice	SLC35B1_uc002ipj.1_Splice_Site_p.Q130_splice	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	254						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGCACTCACCTGACCCAGGGC	0.547												
KCNH6	81033	broad.mit.edu	37	17	61613122	61613122	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:61613122G>A	uc002jay.3	+	5	1274	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	KCNH6_uc002jax.1_Silent_p.A398A|KCNH6_uc010wpl.2_Silent_p.A275A|KCNH6_uc010wpm.2_Silent_p.A398A|KCNH6_uc002jaz.1_Silent_p.A398A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	398					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGTATGGGGCGGCTGTGCTCT	0.617												
TMEM105	284186	broad.mit.edu	37	17	79287573	79287573	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:79287573C>T	uc002kad.2	-	2	818	c.268G>A	c.(268-270)Ggg>Agg	p.G90R		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	90						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCAGACTGCCCCCAGGCAGGC	0.662												
LAMA1	284217	broad.mit.edu	37	18	7010303	7010303	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr18:7010303G>C	uc002knm.3	-	25	3863	c.3769C>G	c.(3769-3771)Caa>Gaa	p.Q1257E	LAMA1_uc010wzj.2_Missense_Mutation_p.Q733E	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1257	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGAGAACTTGAGGCTCAAAA	0.463												
MIDN	90007	broad.mit.edu	37	19	1250466	1250466	+	Silent	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:1250466C>G	uc002lrp.3	+	1	686	c.171C>G	c.(169-171)cgC>cgG	p.R57R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	57	Ubiquitin-like.					nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGCTGCGCAAGCGGTTGT	0.736												
RAVER1	125950	broad.mit.edu	37	19	10444148	10444148	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:10444148C>T	uc002moa.3	-	0	167	c.87G>A	c.(85-87)ccG>ccA	p.P29P		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	12						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TAGGGCTCAGCGGGGGCCGGT	0.692												
USHBP1	83878	broad.mit.edu	37	19	17366376	17366376	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:17366376G>A	uc002nfs.1	-	9	1623	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	USHBP1_uc002nfr.1_Missense_Mutation_p.R130W|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R440W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	504							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTCTCACGCCGCACCAGCTGC	0.647												
DUXA	503835	broad.mit.edu	37	19	57669765	57669766	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:57669765_57669766insT	uc002qoa.1	-	3	413_414	c.368_369insA	c.(367-369)aacfs	p.N123fs		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CAGGATATGGGTTTTTCATAAA	0.470												
ZAP70	7535	broad.mit.edu	37	2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	rs150631046		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:98354224G>A	uc002syd.1	+	11	1694	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_uc002sye.1_Missense_Mutation_p.R386H|ZAP70_uc002syf.1_Missense_Mutation_p.R189H	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	496	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.A495V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCAGGCCCGCTCAGCAGGG	0.627												
SCN7A	6332	broad.mit.edu	37	2	167262324	167262324	+	Silent	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:167262324T>C	uc002udu.2	-	24	4945	c.4815A>G	c.(4813-4815)ttA>ttG	p.L1605L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1605					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAGGGTTGGCTAACAAAAACC	0.368												
DNAH7	56171	broad.mit.edu	37	2	196741332	196741332	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:196741332A>G	uc002utj.4	-	36	6154	c.6053T>C	c.(6052-6054)aTt>aCt	p.I2018T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2018	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACATGACAATATTCTGAGT	0.363												
AAMP	14	broad.mit.edu	37	2	219131281	219131281	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:219131281G>A	uc002vhl.3	-	4	651	c.567C>T	c.(565-567)gtC>gtT	p.V189V	AAMP_uc002vhk.3_Silent_p.V188V	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	188					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCCAACAGGACAGGTGCCC	0.642												
PROKR2	128674	broad.mit.edu	37	20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	rs139399061	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:5282952C>T	uc010zqw.2	-	1	897	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	297						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)		
PCSK2	5126	broad.mit.edu	37	20	17389925	17389925	+	Silent	SNP	C	C	T	rs139215444	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:17389925C>T	uc002wpm.3	+	5	915	c.561C>T	c.(559-561)taC>taT	p.Y187Y	PCSK2_uc002wpl.3_Silent_p.Y168Y|PCSK2_uc010zrm.2_Silent_p.Y152Y	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	187	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCAAGTTACGACTTCAGCA	0.483												
OPRL1	4987	broad.mit.edu	37	20	62729348	62729348	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:62729348G>A	uc002yic.3	+	3	846	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	OPRL1_uc002yid.3_Missense_Mutation_p.A143T|OPRL1_uc021wgs.1_Missense_Mutation_p.A143T|OPRL1_uc002yif.4_Missense_Mutation_p.A138T	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	143					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CACCCTAACTGCCATGAGTGT	0.572												
TMPRSS15	5651	broad.mit.edu	37	21	19775931	19775931	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:19775931C>T	uc002ykw.3	-	0	40	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	3					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGCCTCTTTTCGACCCCATTT	0.353												
CLDN17	26285	broad.mit.edu	37	21	31538845	31538845	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:31538845T>C	uc011acv.2	-	0	127	c.91A>G	c.(91-93)Aga>Gga	p.R31G		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	31					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GCTGATACTCTCCACTGAGGC	0.507												
MX2	4600	broad.mit.edu	37	21	42762561	42762561	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:42762561G>C	uc002yzf.1	+	5	906	c.802G>C	c.(802-804)Gtg>Ctg	p.V268L	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	268					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.V268M(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.557												
CELSR1	9620	broad.mit.edu	37	22	46930786	46930786	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr22:46930786G>A	uc003bhw.1	-	0	2282	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	761	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCTGTCACCGCCAGCACGTA	0.602												
SHISA5	51246	broad.mit.edu	37	3	48538580	48538580	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:48538580G>A	uc003ctp.1	-	1	357	c.223C>T	c.(223-225)Cct>Tct	p.P75S	SHISA5_uc003cto.1_Missense_Mutation_p.P44S|SHISA5_uc003cts.1_Missense_Mutation_p.P44S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	75					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						CTGGCCTCAGGCACAGCACAC	0.572												
ERC2	26059	broad.mit.edu	37	3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:56468977C>T	uc021wzo.1	-	0	199	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ERC2_uc003dhr.1_Missense_Mutation_p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	20						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R20H(3)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468												
FAM19A1	407738	broad.mit.edu	37	3	68055847	68055847	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:68055847C>T	uc003dnd.3	+	1	294	c.78C>T	c.(76-78)tcC>tcT	p.S26S	FAM19A1_uc003dne.3_Silent_p.S26S|FAM19A1_uc003dng.3_Silent_p.S26S|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	26						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCATGGATCCCTTCAGCACA	0.502												
CNTN3	5067	broad.mit.edu	37	3	74316462	74316462	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:74316462C>A	uc003dpm.1	-	19	2852	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	924	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTAACTTGCTCCCAATTAA	0.358												
ARL13B	200894	broad.mit.edu	37	3	93761891	93761891	+	Missense_Mutation	SNP	C	C	A	rs139997243		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:93761891C>A	uc003drc.3	+	6	1116	c.831C>A	c.(829-831)aaC>aaA	p.N277K	ARL13B_uc010hop.3_Missense_Mutation_p.N128K|ARL13B_uc003drf.3_Missense_Mutation_p.N277K|ARL13B_uc003drg.3_Missense_Mutation_p.N174K|ARL13B_uc003drd.3_Missense_Mutation_p.N170K|ARL13B_uc003dre.3_Missense_Mutation_p.N262K	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	277							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AGAAAAAAAACCAAAAAATGG	0.333												
LEPREL1	55214	broad.mit.edu	37	3	189700930	189700930	+	Splice_Site	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:189700930C>T	uc011bsk.2	-	8	1618	c.1230_splice	c.e8-1	p.R410_splice	LEPREL1_uc003fsg.3_Splice_Site_p.R229_splice	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	410					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGAAGGGACCCTGCCCATTCA	0.393												
WDR1	9948	broad.mit.edu	37	4	10086069	10086070	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:10086069_10086070insT	uc021xlv.1	-	8	1319_1320	c.1036_1037insA	c.(1036-1038)attfs	p.I346fs	WDR1_uc021xlw.1_Frame_Shift_Ins_p.I206fs|WDR1_uc003gmh.2_Non-coding_Transcript|WDR1_uc021xly.1_Frame_Shift_Ins_p.I181fs|WDR1_uc010idm.3_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	346					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AAGGATATTAATGTGTCCGTCG	0.550												
FRYL	285527	broad.mit.edu	37	4	48622786	48622786	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:48622786A>C	uc003gyh.1	-	5	789	c.184T>G	c.(184-186)Tct>Gct	p.S62A	FRYL_uc003gyk.3_Missense_Mutation_p.S62A|FRYL_uc003gyl.1_Missense_Mutation_p.S113A|FRYL_uc003gym.1_Missense_Mutation_p.S62A	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	62					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						GAGCTCATAGAGCTTATCAAC	0.363												
SFRP2	6423	broad.mit.edu	37	4	154702675	154702675	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:154702675C>T	uc003inv.1	-	2	1057	c.816G>A	c.(814-816)tcG>tcA	p.S272S		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	272	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	p.S272S(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				ACCGCTTCACCGAGGTGATCA	0.592												
VCAN	1462	broad.mit.edu	37	5	82815367	82815367	+	Silent	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:82815367T>C	uc003kii.3	+	6	1598	c.1242T>C	c.(1240-1242)gcT>gcC	p.A414A	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.A414A|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	414	GAG-alpha (glucosaminoglycan attachment domain).				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)		AACCTCAGGCTATCACAGATA	0.463												
TRIM7	81786	broad.mit.edu	37	5	180622296	180622296	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:180622296A>G	uc003mmz.1	-	6	1473	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	TRIM7_uc003mmv.1_Missense_Mutation_p.V287A|TRIM7_uc003mmw.1_Missense_Mutation_p.V261A|TRIM7_uc003mmy.1_Missense_Mutation_p.V261A|TRIM7_uc003mmx.1_Missense_Mutation_p.V261A	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	469	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CACGGCTCCCACCTCCAGGTC	0.672												
ANKS1A	23294	broad.mit.edu	37	6	34935028	34935028	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:34935028G>A	uc003ojx.4	+	1	352	c.210G>A	c.(208-210)ggG>ggA	p.G70G	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvq.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	70						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTGGAGAGGGCCAAATGTGA	0.423												
GLP1R	2740	broad.mit.edu	37	6	39033981	39033981	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:39033981G>A	uc003ooj.4	+	4	471	c.411G>A	c.(409-411)ccG>ccA	p.P137P	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	137				P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614).	activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	AGAGCTCCCCGGAGGAGCAGC	0.597												
RNF217	154214	broad.mit.edu	37	6	125379096	125379096	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:125379096C>T	uc003pzr.3	+	2	954	c.420C>T	c.(418-420)tgC>tgT	p.C140C	RNF217_uc003pzs.3_Silent_p.C83C|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	83					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGATCCAGTGCCCTACCTGCC	0.388												
HECA	51696	broad.mit.edu	37	6	139495543	139495543	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:139495543C>T	uc003qin.3	+	2	1619	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	445					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CATCTGTATGCCGTGTGCGTG	0.502												
SEPT14	346288	broad.mit.edu	37	7	55874801	55874801	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:55874801G>C	uc003tqz.2	-	7	1085	c.968C>G	c.(967-969)cCa>cGa	p.P323R		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	323					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTTGTTTGGACCCACATC	0.368												
TRIM4	89122	broad.mit.edu	37	7	99507253	99507253	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:99507253C>T	uc003usd.3	-	2	701	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	TRIM4_uc003use.3_Missense_Mutation_p.V142M|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Missense_Mutation_p.V142M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	168					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ATCTTGGCCACGAGATTACGC	0.418												
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:102825947A>G	uc003vbh.4	-	19	3239	c.1048T>C	c.(1048-1050)Tgt>Cgt	p.C350R	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		ACAGCTTGACACTTGCCATTG	0.373												
ATP6V0A4	50617	broad.mit.edu	37	7	138447096	138447096	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:138447096G>A	uc003vuf.3	-	5	739	c.501C>T	c.(499-501)acC>acT	p.T167T	ATP6V0A4_uc003vug.3_Silent_p.T167T|ATP6V0A4_uc003vuh.3_Silent_p.T167T	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	167					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAACTTTCCGGTCATATATG	0.458												
SGK223	157285	broad.mit.edu	37	8	8239066	8239066	+	Silent	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:8239066A>G	uc003wsh.4	-	0	192	c.192T>C	c.(190-192)ccT>ccC	p.P64P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	64							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGCAGTTCTCAGGCCTGGGAG	0.652												
VCPIP1	80124	broad.mit.edu	37	8	67546807	67546807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:67546807C>A	uc003xwn.3	-	2	3857	c.3598G>T	c.(3598-3600)Gag>Tag	p.E1200*		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	1200					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCAAGCTCCTCCACGGAATTT	0.428												
SLC25A32	81034	broad.mit.edu	37	8	104412724	104412724	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:104412724C>G	uc003yll.3	-	6	1166	c.863G>C	c.(862-864)aGa>aCa	p.R288T	SLC25A32_uc011lhr.2_Missense_Mutation_p.R156T	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	288					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGGAGTCACTCTAATCAAATT	0.368												
RECK	8434	broad.mit.edu	37	9	36060144	36060144	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:36060144C>G	uc003zyv.3	+	3	349	c.263C>G	c.(262-264)tCt>tGt	p.S88C	RECK_uc003zyu.4_Missense_Mutation_p.S88C|RECK_uc003zyw.3_5'UTR|RECK_uc010mle.1_Intron|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	88	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGAATTCATCTTTGCCAGGT	0.299												
TMEM2	23670	broad.mit.edu	37	9	74345061	74345061	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:74345061C>T	uc011lsa.1	-	8	2422	c.1882G>A	c.(1882-1884)Ggt>Agt	p.G628S	TMEM2_uc010mos.2_Missense_Mutation_p.G565S|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	628						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGAGTACCCGGCTTGGTG	0.458												
WNK2	65268	broad.mit.edu	37	9	96030055	96030055	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:96030055G>A	uc004ati.1	+	15	3724	c.3724G>A	c.(3724-3726)Gag>Aag	p.E1242K	WNK2_uc011lud.1_Missense_Mutation_p.E1242K|WNK2_uc004atj.3_Missense_Mutation_p.E1242K|WNK2_uc004atk.3_Missense_Mutation_p.E879K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1242					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGCAGGCCGAGCGGGAAAC	0.577												
NANS	54187	broad.mit.edu	37	9	100823174	100823174	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:100823174C>T	uc004ayc.3	+	1	375	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	81					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GGAAGACGTACGGGGAGCACA	0.527												
SVEP1	79987	broad.mit.edu	37	9	113173811	113173811	+	Silent	SNP	G	G	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:113173811G>T	uc010mtz.3	-	36	6517	c.6180C>A	c.(6178-6180)ctC>ctA	p.L2060L	SVEP1_uc010mty.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2060	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGCATTGCAGAGAAGCTGGG	0.512												
MXRA5	25878	broad.mit.edu	37	X	3228536	3228536	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:3228536G>T	uc004crg.4	-	6	7865	c.7708C>A	c.(7708-7710)Ccg>Acg	p.P2570T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2570	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGGTGTCGGGGTCCCCGCG	0.622												
WWC3	55841	broad.mit.edu	37	X	10066544	10066544	+	Splice_Site	SNP	A	A	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:10066544A>T	uc004csx.4	+	8	856	c.658_splice	c.e8-2	p.F220_splice	WWC3_uc010nds.3_Splice_Site|WWC3_uc010ndt.3_Splice_Site	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	220										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGTTCCGGAAAGTTTGTCTTT	0.348												
IL1RAPL1	11141	broad.mit.edu	37	X	29973596	29973596	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:29973596C>G	uc004dby.2	+	10	2258	c.1750C>G	c.(1750-1752)Ctg>Gtg	p.L584V		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	584	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTTGGGGAGCTGCAGACTGT	0.507												
CXorf59	286464	broad.mit.edu	37	X	36103484	36103484	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:36103484C>T	uc004ddk.1	+	4	656	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	157						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CAAAAGTTTTCCAGACAGAAT	0.328												
TEX13A	56157	broad.mit.edu	37	X	104463874	104463874	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:104463874G>A	uc004ema.3	-	3	1108	c.996C>T	c.(994-996)tcC>tcT	p.S332S	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.P335L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	334						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCCAGTCGGAAGGCAGCT	0.537												
ODZ1	10178	broad.mit.edu	37	X	123514489	123514489	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:123514489C>A	uc010nqy.3	-	31	8160	c.8096G>T	c.(8095-8097)gGt>gTt	p.G2699V	ODZ1_uc011muj.2_Missense_Mutation_p.G2698V|ODZ1_uc004euj.3_Missense_Mutation_p.G2692V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2692					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CCCATCGTAACCTTGTACCCG	0.463												
PDZD4	57595	broad.mit.edu	37	X	153069052	153069052	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:153069052C>T	uc004fja.1	-	7	2334	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H	PDZD4_uc004fiy.1_Missense_Mutation_p.R614H|PDZD4_uc004fiz.1_Missense_Mutation_p.R689H|PDZD4_uc004fix.2_Missense_Mutation_p.R593H|PDZD4_uc011mze.1_Missense_Mutation_p.R580H|PDZD4_uc022chy.1_Missense_Mutation_p.R68H	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	689						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCTGCTCACGGGCCCGGAT	0.647