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
PLEKHG5	57449	broad.mit.edu	37	1	6579534	6579534	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:6579534C>T	uc001anp.1	-	1	536	c.38G>A	c.(37-39)CGA>CAA	p.R13Q	PLEKHG5_uc001anq.1_Missense_Mutation_p.R13Q	NM_198681	NP_941374	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	Error:Variant_position_missing_in_O94827_after_alignment					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GAGCCAGCTTCGAGGTGGAGA	0.532000												
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:115256530G>T	uc009wgu.2	-	3	435	c.181C>A	c.(181-183)CAA>AAA	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61	GTP.		Q -> K (in neuroblastoma cell).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1)		haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(HT1080_SOFT_TISSUE)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(TYKNU_OVARY)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH2087_LUNG)|Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HS944T_SKIN)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(HS936T_SKIN)|Q61K(NCIH1299_LUNG)	50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)		
HAO2	51179	broad.mit.edu	37	1	119929380	119929380	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:119929380G>A	uc001ehq.1	+	6	1049	c.697G>A	c.(697-699)GCT>ACT	p.A233T	HAO2_uc001ehr.1_Missense_Mutation_p.A233T	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	233	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGCAGAGTTAGCTGTGAAGCA	0.458000												
LINGO4	339398	broad.mit.edu	37	1	151774881	151774881	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:151774881C>A	uc001ezf.1	-	2	490	c.300G>T	c.(298-300)GAG>GAT	p.E100D		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	100	Extracellular (Potential).|LRR 2.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCCCCAGGCTCAAGGGTTG	0.617000												
APOA1BP	128240	broad.mit.edu	37	1	156563272	156563272	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:156563272C>G	uc001fph.2	+	5	628	c.589C>G	c.(589-591)CGG>GGG	p.R197G	APOA1BP_uc001fpg.2_Missense_Mutation_p.R197G|APOA1BP_uc001fpi.2_Missense_Mutation_p.S178W|APOA1BP_uc001fpj.2_Missense_Mutation_p.R114G|APOA1BP_uc001fpk.2_Missense_Mutation_p.R94G|APOA1BP_uc010php.1_Missense_Mutation_p.R94G	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	197	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCGATGTTCGGGAACCGTT	0.552000												
KCNK2	3776	broad.mit.edu	37	1	215342582	215342582	+	Silent	SNP	A	A	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:215342582A>C	uc001hkq.2	+	4	685	c.516A>C	c.(514-516)ATA>ATC	p.I172I	KCNK2_uc001hko.2_Silent_p.I168I|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Silent_p.I157I	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	172	Helical; (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GCGGCAAAATATTCTGTATCA	0.259000												
HHIPL2	79802	broad.mit.edu	37	1	222716993	222716993	+	Missense_Mutation	SNP	C	C	T	rs148477475	byFrequency	TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:222716993C>T	uc001hnh.1	-	2	918	c.860G>A	c.(859-861)CGC>CAC	p.R287H		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	287					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		ATAGAACTTGCGATTGTGGCG	0.478000												
PCNXL2	80003	broad.mit.edu	37	1	233136105	233136105	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr1:233136105G>C	uc001hvl.2	-	30	5509	c.5274C>G	c.(5272-5274)GAC>GAG	p.D1758E	PCNXL2_uc001hvk.1_Missense_Mutation_p.D410E|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1758						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTTGTACTCGTCGGCACCCT	0.617000												
VIM	7431	broad.mit.edu	37	10	17276693	17276693	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:17276693T>C	uc001iou.2	+	6	1297	c.884T>C	c.(883-885)TTT>TCT	p.F295S	VIM_uc001iov.1_Missense_Mutation_p.F295S|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.F295S|VIM_uc001ioy.1_Missense_Mutation_p.F295S|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Missense_Mutation_p.F295S	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	295	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCCCAACAGTTTGCTGACCTC	0.463000												
KIAA1462	57608	broad.mit.edu	37	10	30317329	30317329	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:30317329A>T	uc001iux.2	-	2	1807	c.1748T>A	c.(1747-1749)GTT>GAT	p.V583D	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.V445D|KIAA1462_uc009xle.1_Missense_Mutation_p.V583D	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	583										ovary(4)	4						TGGGATAGAAACCAAGCAAAA	0.403000												
ZNF503	84858	broad.mit.edu	37	10	77159095	77159095	+	Silent	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:77159095G>A	uc001jxg.2	-	2	1689	c.1353C>T	c.(1351-1353)TGC>TGT	p.C451C	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	451	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GATCATGTGCGCAAGAAGCGC	0.687000												
CNNM1	26507	broad.mit.edu	37	10	101124187	101124187	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:101124187T>G	uc001kpp.3	+	5	2331	c.2042T>G	c.(2041-2043)GTG>GGG	p.V681G	CNNM1_uc009xwe.2_Missense_Mutation_p.V681G|CNNM1_uc010qpi.1_Missense_Mutation_p.V681G|CNNM1_uc009xwf.2_Missense_Mutation_p.V681G|CNNM1_uc009xwg.2_Missense_Mutation_p.V81G	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	681					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAAGTGGAGGTGGAGGTTGGT	0.433000												
DNMBP	23268	broad.mit.edu	37	10	101715527	101715527	+	Silent	SNP	T	T	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr10:101715527T>A	uc001kqj.2	-	4	1796	c.1704A>T	c.(1702-1704)ACA>ACT	p.T568T	NCRNA00093_uc001kqk.1_RNA	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	568					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TATCTGGCTCTGTGCCGGGCC	0.498000												
MUC6	4588	broad.mit.edu	37	11	1016369	1016369	+	Silent	SNP	A	A	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:1016369A>G	uc001lsw.2	-	31	6483	c.6432T>C	c.(6430-6432)TAT>TAC	p.Y2144Y		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2144	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGGGCACATAAGAAGAAA	0.552000												
TNNI2	7136	broad.mit.edu	37	11	1862404	1862404	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:1862404C>G	uc010qxe.1	+	5	442	c.420C>G	c.(418-420)AAC>AAG	p.N140K	TNNI2_uc010qxc.1_Missense_Mutation_p.N138K|TNNI2_uc010qxd.1_Missense_Mutation_p.N138K	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	140					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGAGGGCCAACCTGAAGCAGG	0.662000												
LDHC	3948	broad.mit.edu	37	11	18456456	18456456	+	Silent	SNP	T	T	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:18456456T>G	uc001mon.3	+	5	700	c.588T>G	c.(586-588)TCT>TCG	p.S196S	LDHC_uc001mom.3_Silent_p.S196S|LDHC_uc009yhp.2_Silent_p.S196S|LDHC_uc001moo.3_Silent_p.S80S|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Silent_p.S80S	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	196					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	ATGGTGATTCTAGtggtaagt	0.239000												
OR5T3	390154	broad.mit.edu	37	11	56020031	56020031	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:56020031A>T	uc010rjd.1	+	1	356	c.356A>T	c.(355-357)AAT>ATT	p.N119I		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	119	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					CTGGCAAAAAATAAATCCATT	0.353000												
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Silent	SNP	T	T	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:61161357T>G	uc010rlj.1	+	3	410	c.117T>G	c.(115-117)GGT>GGG	p.G39G	TMEM216_uc001nrn.1_5'UTR	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane					0						TATTGGCAGGTGTCCTGCTAC	0.438000												
CDC42BPG	55561	broad.mit.edu	37	11	64603960	64603960	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:64603960G>T	uc001obs.3	-	12	1427	c.1427C>A	c.(1426-1428)CCC>CAC	p.P476H		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	476	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						ACCAGCTGGGGGCCCATCCGT	0.507000											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
BIRC3	330	broad.mit.edu	37	11	102196232	102196232	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:102196232G>A	uc001pgx.2	+	4	1111	c.889G>A	c.(889-891)GGT>AGT	p.G297S		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	297	BIR 3.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G297D(1)		ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTGCTGTGATGGTGGACTCAG	0.348000			T	MALT1	MALT							
MMP8	4317	broad.mit.edu	37	11	102593235	102593235	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:102593235C>A	uc001phe.2	-	2	371	c.272G>T	c.(271-273)TGT>TTT	p.C91F	MMP8_uc010rut.1_Missense_Mutation_p.C26F|MMP8_uc010ruu.1_Missense_Mutation_p.C68F	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	91	Cysteine switch (By similarity).	Zinc 2; in inhibited form.			collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AGGCACTCCACAGCGAGGCTT	0.458000												
KIRREL3	84623	broad.mit.edu	37	11	126294762	126294762	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr11:126294762C>T	uc001qea.2	-	17	2411	c.2050G>A	c.(2050-2052)GGC>AGC	p.G684S	KIRREL3_uc001qeb.2_Missense_Mutation_p.G672S|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	684	Cytoplasmic (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGGCCCTGGCCGCTCAGGGTG	0.647000												
CAPRIN2	65981	broad.mit.edu	37	12	30887968	30887968	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr12:30887968G>A	uc001rji.1	-	4	1494	c.743C>T	c.(742-744)TCA>TTA	p.S248L	CAPRIN2_uc001rjf.1_Missense_Mutation_p.S45L|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S248L|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.S248L|CAPRIN2_uc001rjl.3_Missense_Mutation_p.S248L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	248					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAGTTCTTTTGAAGGCAAATA	0.378000												
AMIGO2	347902	broad.mit.edu	37	12	47471346	47471346	+	Silent	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr12:47471346G>A	uc001rpm.2	-	3	2095	c.1440C>T	c.(1438-1440)AAC>AAT	p.N480N	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.N480N|AMIGO2_uc001rpl.2_Silent_p.N480N	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	480	Cytoplasmic (Potential).				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					TGACTTTCCCGTTCTGCCCTG	0.532000												
GEFT	115557	broad.mit.edu	37	12	58006728	58006728	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr12:58006728C>T	uc001spb.2	+	2	573	c.113C>T	c.(112-114)GCG>GTG	p.A38V	GEFT_uc009zpy.2_Missense_Mutation_p.A77V|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Intron|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	38					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					TATTCCATTGCGGGCAGTGAG	0.493000												
MYBPC1	4604	broad.mit.edu	37	12	102069076	102069076	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr12:102069076C>T	uc001tii.2	+	25	2897	c.2795C>T	c.(2794-2796)CCA>CTA	p.P932L	MYBPC1_uc001tig.2_Missense_Mutation_p.P939L|MYBPC1_uc010svq.1_Missense_Mutation_p.P901L|MYBPC1_uc001tih.2_Missense_Mutation_p.P939L|MYBPC1_uc001tij.2_Missense_Mutation_p.P914L|MYBPC1_uc010svr.1_Missense_Mutation_p.P914L|MYBPC1_uc010svs.1_Missense_Mutation_p.P932L|MYBPC1_uc010svt.1_Missense_Mutation_p.P902L|MYBPC1_uc010svu.1_Missense_Mutation_p.P895L|MYBPC1_uc001tik.2_Missense_Mutation_p.P888L|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	932	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GTAGACCGTCCAGGTCCACCC	0.453000												
SOHLH2	54937	broad.mit.edu	37	13	36776025	36776025	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr13:36776025T>C	uc001uvj.2	-	2	343	c.254A>G	c.(253-255)AAG>AGG	p.K85R	SOHLH2_uc010tei.1_Missense_Mutation_p.K162R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	85					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCTAATTAACTTGATGGCTTC	0.368000												
OR11H12	440153	broad.mit.edu	37	14	19377832	19377832	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr14:19377832A>G	uc010tkp.1	+	1	239	c.239A>G	c.(238-240)AAT>AGT	p.N80S		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	80	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCTGGGAAATTTCTCCTTT	0.413000												
ADCY4	196883	broad.mit.edu	37	14	24788626	24788626	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr14:24788626T>C	uc001wov.2	-	22	2756	c.2750A>G	c.(2749-2751)AAG>AGG	p.K917R	ADCY4_uc001wow.2_Missense_Mutation_p.K917R|ADCY4_uc010toh.1_Missense_Mutation_p.K603R|ADCY4_uc001wox.2_Missense_Mutation_p.K917R|ADCY4_uc001woy.2_Missense_Mutation_p.K917R	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	917	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		CCCACTGAACTTGGGCTTGGA	0.547000												
SEMA4B	10509	broad.mit.edu	37	15	90770820	90770820	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr15:90770820G>A	uc002boy.2	+	14	2003	c.1720G>A	c.(1720-1722)GCC>ACC	p.A574T	SEMA4B_uc002boz.2_Missense_Mutation_p.A574T|SEMA4B_uc010uqd.1_Missense_Mutation_p.A412T|SEMA4B_uc002bpa.2_Missense_Mutation_p.A412T|SEMA4B_uc010bnv.1_Missense_Mutation_p.A212T	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GGGAGCCAGCGCCAAGGACCT	0.597000												
SRCAP	10847	broad.mit.edu	37	16	30732220	30732220	+	Silent	SNP	C	C	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr16:30732220C>G	uc002dze.1	+	20	3559	c.3174C>G	c.(3172-3174)CCC>CCG	p.P1058P	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.P915P|SRCAP_uc010bzz.1_Silent_p.P628P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1058	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTGCCGGGCCCCCGCTTATTC	0.642000												
CDH13	1012	broad.mit.edu	37	16	83251091	83251091	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr16:83251091G>T	uc002fgx.2	+	5	745	c.625G>T	c.(625-627)GCT>TCT	p.A209S	CDH13_uc010vns.1_Missense_Mutation_p.A256S|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Missense_Mutation_p.A170S	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	209	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGAAGTAATCGCTGTTTATCA	0.478000												
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr17:7578394T>C	uc002gim.2	-	5	730	c.536A>G	c.(535-537)CAT>CGT	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	179	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
CRYBA1	1411	broad.mit.edu	37	17	27581338	27581338	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr17:27581338A>T	uc002hdw.2	+	6	626	c.619A>T	c.(619-621)ATC>TTC	p.I207F		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	207	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens				0			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GACTTCGCAGATCCAATCGAT	0.438000												
PIP4K2B	8396	broad.mit.edu	37	17	36934602	36934602	+	Silent	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr17:36934602C>T	uc002hqs.2	-	6	1159	c.678G>A	c.(676-678)GCG>GCA	p.A226A	PIP4K2B_uc010wdt.1_Silent_p.A226A|PIP4K2B_uc010wdu.1_Silent_p.A162A	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	226	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						CCTTGTCGCTCGCTTCTCTGG	0.562000												
FN3KRP	79672	broad.mit.edu	37	17	80676889	80676889	+	Silent	SNP	G	G	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr17:80676889G>T	uc002kfu.2	+	2	299	c.249G>T	c.(247-249)GGG>GGT	p.G83G	FN3KRP_uc010wvr.1_Silent_p.G33G	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	83							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGGCGGCGGGAGCGTGCTGG	0.537000												
PIK3C3	5289	broad.mit.edu	37	18	39573270	39573270	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr18:39573270G>A	uc002lap.2	+	7	809	c.751G>A	c.(751-753)GAA>AAA	p.E251K	PIK3C3_uc010xcl.1_Missense_Mutation_p.E188K	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	251					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						AACAAGTTTTGAATTAGTGAA	0.299000										TSP Lung(28;0.18)		
ZNF681	148213	broad.mit.edu	37	19	23937635	23937635	+	Silent	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr19:23937635G>A	uc002nrk.3	-	3	358	c.216C>T	c.(214-216)GCC>GCT	p.A72A	ZNF681_uc002nrl.3_Silent_p.A3A|ZNF681_uc002nrj.3_Silent_p.A3A|ZNF681_uc002nrm.1_RNA	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTGGGGGTTCGGCCACCATCC	0.423000												
NRXN1	9378	broad.mit.edu	37	2	50724691	50724691	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:50724691C>T	uc010fbq.2	-	14	4256	c.2779G>A	c.(2779-2781)GAC>AAC	p.D927N	NRXN1_uc002rxb.3_Missense_Mutation_p.D559N|NRXN1_uc002rxe.3_Missense_Mutation_p.D887N|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	250	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAATCTATGTCGCCATTTTTA	0.438000												
CNTNAP5	129684	broad.mit.edu	37	2	125555790	125555790	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:125555790C>T	uc002tno.2	+	19	3471	c.3107C>T	c.(3106-3108)TCC>TTC	p.S1036F	CNTNAP5_uc010flu.2_Missense_Mutation_p.S1037F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1036	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCAGCTCCATCCAAGGAAAAC	0.453000												
LRP2	4036	broad.mit.edu	37	2	170063039	170063039	+	Silent	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:170063039G>A	uc002ues.2	-	39	7404	c.7191C>T	c.(7189-7191)TCC>TCT	p.S2397S		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2397	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCTTCTCAAGGAATTAGACA	0.423000												
AGPS	8540	broad.mit.edu	37	2	178364413	178364413	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:178364413T>C	uc002ull.2	+	14	1477	c.1430T>C	c.(1429-1431)GTT>GCT	p.V477A	AGPS_uc010zfb.1_Missense_Mutation_p.V387A	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	477					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CGTGAGAAGGTTCTTCAACAT	0.264000												
TTN	7273	broad.mit.edu	37	2	179476671	179476671	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:179476671C>T	uc010zfg.1	-	217	42885	c.42661G>A	c.(42661-42663)GAG>AAG	p.E14221K	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7916K|TTN_uc010zfi.1_Missense_Mutation_p.E7849K|TTN_uc010zfj.1_Missense_Mutation_p.E7724K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15148							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCTTCTCAATGACATAT	0.363000												
ASNSD1	54529	broad.mit.edu	37	2	190532126	190532126	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:190532126G>A	uc002uqt.2	+	4	1702	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	423	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGCCCTTCCCGAATTTGGAAT	0.413000												
OBFC2A	64859	broad.mit.edu	37	2	192550460	192550460	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:192550460A>G	uc002usx.2	+	6	1061	c.581A>G	c.(580-582)AAT>AGT	p.N194S	OBFC2A_uc002usw.2_Missense_Mutation_p.N114S|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_Missense_Mutation_p.N108S	NM_001031716	NP_001026886	Q96AH0	SOSB2_HUMAN	oligonucleotide/oligosaccharide-binding fold	194					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			ACAATAAGTAATGGCAGGGAC	0.413000												
COL6A3	1293	broad.mit.edu	37	2	238289897	238289897	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr2:238289897C>T	uc002vwl.2	-	5	1843	c.1558G>A	c.(1558-1560)GGC>AGC	p.G520S	COL6A3_uc002vwo.2_Missense_Mutation_p.G314S|COL6A3_uc010znj.1_Missense_Mutation_p.G113S|COL6A3_uc002vwq.2_Missense_Mutation_p.G314S|COL6A3_uc002vwr.2_Missense_Mutation_p.G113S|COL6A3_uc010znk.1_Missense_Mutation_p.G520S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	520	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGCCGAGCCGTCCAGGGGC	0.522000												
FLRT3	23767	broad.mit.edu	37	20	14307252	14307252	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr20:14307252T>G	uc002wov.1	-	3	1368	c.901A>C	c.(901-903)ATT>CTT	p.I301L	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.I301L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	301	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTGCGAAGAATCAGTTGTGTT	0.423000												
TSHZ2	128553	broad.mit.edu	37	20	51871474	51871474	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr20:51871474G>A	uc002xwo.2	+	2	2433	c.1477G>A	c.(1477-1479)GAC>AAC	p.D493N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	493					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AAAACCTTTAGACCCTACAAT	0.408000												
PCK1	5105	broad.mit.edu	37	20	56139227	56139227	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr20:56139227C>A	uc002xyn.3	+	7	1127	c.964C>A	c.(964-966)CAT>AAT	p.H322N	PCK1_uc010zzm.1_Missense_Mutation_p.H5N	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	322					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTCTCCAGGTCATTTAAGGGC	0.453000												
CDH4	1002	broad.mit.edu	37	20	60485616	60485616	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr20:60485616G>A	uc002ybn.1	+	9	1341	c.1327G>A	c.(1327-1329)GTC>ATC	p.V443I	CDH4_uc002ybp.1_Missense_Mutation_p.V369I	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	443	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCACTTCAGCGTCCGCACAGA	0.597000												
TMPRSS15	5651	broad.mit.edu	37	21	19653413	19653413	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr21:19653413C>T	uc002ykw.2	-	22	2643	c.2612G>A	c.(2611-2613)CGA>CAA	p.R871Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	871	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GTCCTTTCTTCGCCTATTGTA	0.363000												
SCN11A	11280	broad.mit.edu	37	3	38912935	38912935	+	Splice_Site	SNP	C	C	T	rs149753298		TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:38912935C>T	uc011ays.1	-	21	3958	c.3759_splice	c.e21+1	p.V1253_splice		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTGTACTTACCACTTGCAGC	0.373000												
ZNF35	7584	broad.mit.edu	37	3	44694075	44694075	+	Silent	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:44694075G>A	uc003cnq.2	+	3	440	c.219G>A	c.(217-219)GCG>GCA	p.A73A	ZNF35_uc003cnr.2_Intron	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	73	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GGGATATGGCGGTAGTCCTGA	0.502000												
TEX264	51368	broad.mit.edu	37	3	51733461	51733461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:51733461C>T	uc010hls.2	+	5	689	c.520C>T	c.(520-522)CAG>TAG	p.Q174*	TEX264_uc003dbk.3_Nonsense_Mutation_p.Q174*|TEX264_uc010hlt.2_5'UTR|TEX264_uc003dbl.3_Nonsense_Mutation_p.Q174*|TEX264_uc003dbm.3_Nonsense_Mutation_p.Q213*	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN	testis expressed 264 precursor	174						extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGAGATCTACCAGGAAGACCA	0.557000												
DNAH1	25981	broad.mit.edu	37	3	52395215	52395215	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:52395215A>C	uc011bef.1	+	29	4982	c.4721A>C	c.(4720-4722)AAG>ACG	p.K1574T		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1574	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGCACCTCAAGTTTGGGGGT	0.607000												
KIAA1524	57650	broad.mit.edu	37	3	108276170	108276170	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:108276170C>T	uc003dxb.3	-	17	2374	c.2105G>A	c.(2104-2106)AGA>AAA	p.R702K		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	702	Potential.					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						ACTCTGCGCTCTTTCTGATTC	0.398000												
KIAA1524	57650	broad.mit.edu	37	3	108298465	108298465	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:108298465A>C	uc003dxb.3	-	6	889	c.620T>G	c.(619-621)TTT>TGT	p.F207C	KIAA1524_uc003dxc.1_Missense_Mutation_p.F48C|KIAA1524_uc010hpw.1_Missense_Mutation_p.F48C	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	207	Helical; (Potential).					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						TGAAAGTGCAAACACAACCAC	0.284000												
MRPL47	57129	broad.mit.edu	37	3	179319544	179319544	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:179319544T>G	uc003fjz.2	-	3	301	c.279A>C	c.(277-279)AAA>AAC	p.K93N	MRPL47_uc003fka.2_5'UTR|MRPL47_uc003fkb.2_Missense_Mutation_p.K73N	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	93					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTTCATTACTTTTGTTCCTTA	0.259000												
PEX5L	51555	broad.mit.edu	37	3	179576923	179576923	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:179576923C>T	uc003fki.1	-	8	879	c.749G>A	c.(748-750)CGC>CAC	p.R250H	PEX5L_uc011bqd.1_Missense_Mutation_p.R207H|PEX5L_uc011bqe.1_Missense_Mutation_p.R58H|PEX5L_uc011bqf.1_Missense_Mutation_p.R142H|PEX5L_uc003fkj.1_Missense_Mutation_p.R215H|PEX5L_uc010hxd.1_Missense_Mutation_p.R248H|PEX5L_uc011bqg.1_Missense_Mutation_p.R226H|PEX5L_uc011bqh.1_Missense_Mutation_p.R191H	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	250					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTTCCCCAGCGATGTTCTTT	0.358000												
EPHB3	2049	broad.mit.edu	37	3	184298951	184298951	+	Silent	SNP	T	T	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr3:184298951T>C	uc003foz.2	+	14	3167	c.2730T>C	c.(2728-2730)TCT>TCC	p.S910S		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	910	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCGCTCAGTCTGGGTTAGTAC	0.567000												
SPP1	6696	broad.mit.edu	37	4	88902651	88902651	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr4:88902651A>C	uc003hra.2	+	6	406	c.241A>C	c.(241-243)AGC>CGC	p.S81R	SPP1_uc003hrb.2_Missense_Mutation_p.S54R|SPP1_uc003hrc.2_Missense_Mutation_p.S67R|SPP1_uc011cde.1_Missense_Mutation_p.S94R|SPP1_uc003hrd.2_Missense_Mutation_p.S40R	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	81					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GTCCAACGAAAGCCATGACCA	0.408000												
GUCY1A3	2982	broad.mit.edu	37	4	156651353	156651353	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr4:156651353T>A	uc003iov.2	+	11	2579	c.2043T>A	c.(2041-2043)AAT>AAA	p.N681K	GUCY1A3_uc003iow.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.N680K|GUCY1A3_uc003iox.2_Missense_Mutation_p.N681K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.N681K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	681				GNANFLGKASGID -> ASQFFRQSIRNRLATYIPIYKSLG FDSLKMCRASESTLGIVDG (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCAATGCCAATTTTTTAGGCA	0.398000												
ADAMTS12	81792	broad.mit.edu	37	5	33643533	33643533	+	Missense_Mutation	SNP	G	G	A	rs143654915	byFrequency	TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr5:33643533G>A	uc003jia.1	-	10	1685	c.1522C>T	c.(1522-1524)CGC>TGC	p.R508C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R508C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	508	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGCTTAGAGCGACAAAAGCCC	0.498000										HNSCC(64;0.19)		
LYSMD3	116068	broad.mit.edu	37	5	89814934	89814934	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr5:89814934G>A	uc003kjr.2	-	3	771	c.623C>T	c.(622-624)CCC>CTC	p.P208L	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	208	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCATAATAGGGGTCTTTACG	0.388000												
PCDHAC1	56135	broad.mit.edu	37	5	140308286	140308286	+	Silent	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr5:140308286G>A	uc003lih.2	+	1	1985	c.1809G>A	c.(1807-1809)GCG>GCA	p.A603A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.A603A	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	603	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A603A(1)		skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCGGGCGTCTGACTCTA	0.522000												
CAMK2A	815	broad.mit.edu	37	5	149602668	149602668	+	Silent	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr5:149602668G>A	uc003lru.2	-	17	1532	c.1317C>T	c.(1315-1317)GAC>GAT	p.D439D	CAMK2A_uc003lrs.2_Silent_p.D150D|CAMK2A_uc003lrt.2_Silent_p.D450D	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	439					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGCCAGCGTCCAGGTACT	0.642000												
SLC26A8	116369	broad.mit.edu	37	6	35923217	35923217	+	Silent	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:35923217C>T	uc003olm.2	-	17	2055	c.1944G>A	c.(1942-1944)GAG>GAA	p.E648E	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Silent_p.E230E|SLC26A8_uc003oln.2_Silent_p.E648E|SLC26A8_uc003oll.2_Silent_p.E543E	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	648	STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						TGTTCATGCTCTCAAAATGTG	0.458000												
TSPO2	222642	broad.mit.edu	37	6	41010893	41010893	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:41010893G>A	uc003opj.2	+	2	470	c.169G>A	c.(169-171)GTG>ATG	p.V57M	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Silent_p.S66S|TSPO2_uc011dub.1_Missense_Mutation_p.V57M	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN	benzodiazapine receptor (peripheral)-like 1	57	Helical; (Potential).				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity				0						CTACTCTGTCGTGGGGTGAGT	0.498000												
KHDRBS2	202559	broad.mit.edu	37	6	62604706	62604706	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:62604706G>A	uc003peg.2	-	6	891	c.644C>T	c.(643-645)CCA>CTA	p.P215L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCGTCCAGGTGGTGGGGGAGG	0.572000												
REV3L	5980	broad.mit.edu	37	6	111697854	111697854	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:111697854T>A	uc003puy.3	-	13	2027	c.1704A>T	c.(1702-1704)GAA>GAT	p.E568D	REV3L_uc003pux.3_Missense_Mutation_p.E490D|REV3L_uc003puz.3_Missense_Mutation_p.E490D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	568					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGATGAGGGTTCTAATGTAG	0.378000								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
GRM1	2911	broad.mit.edu	37	6	146351241	146351241	+	Silent	SNP	T	T	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr6:146351241T>G	uc010khw.1	+	2	1058	c.588T>G	c.(586-588)ACT>ACG	p.T196T	GRM1_uc010khu.1_Silent_p.T196T|GRM1_uc010khv.1_Silent_p.T196T|GRM1_uc003qll.2_Silent_p.T196T|GRM1_uc011edz.1_Silent_p.T196T|GRM1_uc011eea.1_Silent_p.T196T	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	196	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTGACAAAACTTTGTACAAAT	0.493000												
IQCE	23288	broad.mit.edu	37	7	2617908	2617908	+	Silent	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr7:2617908G>A	uc003smo.3	+	7	682	c.498G>A	c.(496-498)CTG>CTA	p.L166L	IQCE_uc010ksm.1_Silent_p.L166L|IQCE_uc003sml.1_Silent_p.L166L|IQCE_uc011jvy.1_Silent_p.L150L|IQCE_uc011jvz.1_Silent_p.L101L|IQCE_uc003smk.3_Silent_p.L150L|IQCE_uc003smn.3_Silent_p.L101L	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	166	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ACGTGGACCTGATGAGAACGA	0.507000												
ELMO1	9844	broad.mit.edu	37	7	37298854	37298854	+	Silent	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr7:37298854C>T	uc003tfk.1	-	6	652	c.345G>A	c.(343-345)ACG>ACA	p.T115T	ELMO1_uc011kbc.1_Silent_p.T19T|ELMO1_uc010kxg.1_Silent_p.T115T	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	115					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						CCTGGGCAAACGTGACATCCC	0.547000												
SSPO	23145	broad.mit.edu	37	7	149489758	149489758	+	Silent	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr7:149489758C>T	uc010lpk.2	+	39	5814	c.5814C>T	c.(5812-5814)AAC>AAT	p.N1938N		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1938	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCTCCAACAACCCCCGCC	0.687000												
MSR1	4481	broad.mit.edu	37	8	16021613	16021613	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr8:16021613C>T	uc003wwz.2	-	5	976	c.778G>A	c.(778-780)GAA>AAA	p.E260K	MSR1_uc010lsu.2_Missense_Mutation_p.E278K|MSR1_uc003wxa.2_Missense_Mutation_p.E260K|MSR1_uc003wxb.2_Missense_Mutation_p.E260K|MSR1_uc011kxz.1_Missense_Mutation_p.E34K	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	260	Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGAGAATGTTCCCAATCTTTC	0.313000												
ADAM18	8749	broad.mit.edu	37	8	39581392	39581392	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr8:39581392A>G	uc003xni.2	+	19	2143	c.2143A>G	c.(2143-2145)AAA>GAA	p.K715E	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.K691E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	715	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGAAATAAGTAAATCATGTAA	0.313000												
CHRNB3	1142	broad.mit.edu	37	8	42586889	42586889	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr8:42586889G>A	uc003xpi.1	+	5	567	c.439G>A	c.(439-441)GCC>ACC	p.A147T		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	147	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GACCCCTCCCGCCAGCTACAA	0.527000												
PREX2	80243	broad.mit.edu	37	8	69011999	69011999	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr8:69011999C>A	uc003xxv.1	+	23	2663	c.2636C>A	c.(2635-2637)ACT>AAT	p.T879N	PREX2_uc003xxu.1_Missense_Mutation_p.T879N|PREX2_uc011lez.1_Missense_Mutation_p.T814N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	879					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GTGATTCCTACTGACCTTCAG	0.343000												
SMARCA2	6595	broad.mit.edu	37	9	2084121	2084121	+	Silent	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:2084121G>A	uc003zhc.2	+	17	2550	c.2451G>A	c.(2449-2451)CAG>CAA	p.Q817Q	SMARCA2_uc003zhd.2_Silent_p.Q817Q|SMARCA2_uc010mha.2_Silent_p.Q808Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	817	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTGTCCCCCAGCTACGGAGTG	0.368000												
CDKN2A	1029	broad.mit.edu	37	9	21974695	21974695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:21974695G>T	uc003zpk.2	-	1	344	c.132C>A	c.(130-132)TAC>TAA	p.Y44*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.Y44*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	44	ANK 2.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(25)|p.Y44*(3)|p.Y44fs*1(1)|p.Y44fs*76(1)|p.V28_V51del(1)|p.G45del(1)|p.Y44S(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCGACCGTAACTATTCG	0.682000		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
NOL6	65083	broad.mit.edu	37	9	33469046	33469046	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:33469046C>A	uc003zsz.2	-	7	1037	c.936G>T	c.(934-936)CAG>CAT	p.Q312H	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.Q312H|NOL6_uc010mjv.2_Missense_Mutation_p.Q312H|NOL6_uc011lob.1_Missense_Mutation_p.Q252H|NOL6_uc003ztb.1_Missense_Mutation_p.Q312H	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	312					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTGACAGCAGCTGCAAATGGG	0.577000												
TMEM2	23670	broad.mit.edu	37	9	74315723	74315723	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:74315723A>G	uc011lsa.1	-	19	3752	c.3212T>C	c.(3211-3213)GTT>GCT	p.V1071A	TMEM2_uc011lrz.1_Missense_Mutation_p.V64A|TMEM2_uc010mos.2_Missense_Mutation_p.V1008A|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_5'Flank	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1071						integral to membrane				ovary(2)	2		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)		GCAAAGGCCAACTCGAATCCA	0.378000												
BAAT	570	broad.mit.edu	37	9	104124855	104124855	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:104124855A>G	uc010mtd.2	-	4	1221	c.1112T>C	c.(1111-1113)CTG>CCG	p.L371P	BAAT_uc004bbd.3_Missense_Mutation_p.L371P	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	371					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGCACAGCACAGAGGAGAATA	0.542000												
CDK5RAP2	55755	broad.mit.edu	37	9	123201972	123201972	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:123201972T>C	uc004bkf.2	-	24	3608	c.3427A>G	c.(3427-3429)ATA>GTA	p.I1143V	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.I152V|CDK5RAP2_uc004bke.2_Missense_Mutation_p.I428V|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.I1143V|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.I408V|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.I408V|CDK5RAP2_uc011lya.1_Missense_Mutation_p.I408V|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.I913V|CDK5RAP2_uc004bki.2_Missense_Mutation_p.I910V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1143	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						ACTGTAATTATGGCCTCACTG	0.443000											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZER1	10444	broad.mit.edu	37	9	131502299	131502299	+	Silent	SNP	G	G	A	rs35240402		TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr9:131502299G>A	uc004bwa.1	-	13	2386	c.1953C>T	c.(1951-1953)GTC>GTT	p.V651V		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	651					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GGGGCTCACAGACGCCCCAGG	0.587000												
SRPK3	26576	broad.mit.edu	37	X	153047060	153047060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chrX:153047060G>A	uc004fil.2	+	3	323	c.291G>A	c.(289-291)TGG>TGA	p.W97*	SRPK3_uc004fik.2_Nonsense_Mutation_p.W163*|SRPK3_uc010nul.2_Nonsense_Mutation_p.W55*|SRPK3_uc004fin.2_Nonsense_Mutation_p.W97*|SRPK3_uc004fim.2_Nonsense_Mutation_p.W97*	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	97	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCTCTGCTGGGACATCCAGT	0.667000												
TMPRSS11A	339967	broad.mit.edu	37	4	68810345	68810346	+	Frame_Shift_Ins	INS	-	-	T	rs139010197	byFrequency	TCGA-CD-A489-01A-11D-A24D-08	TCGA-CD-A489-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a6ef23-ca22-4c1a-8edc-992227c369da	436cc20a-4b6e-4d37-9b13-7136e43ef71b	g.chr4:68810345_68810346insT	uc003hdr.1	-	3	264_265	c.143_144insA	c.(142-144)AAGfs	p.K48fs	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Ins_p.K48fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	48	SEA.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						GATAGTACTCCTTTTTTTGGTC	0.342