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
CPSF3L	54973	broad.mit.edu	37	1	1249704	1249704	+	Silent	SNP	G	G	C			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr1:1249704G>C	uc001aef.1	-	9	1275	c.762C>G	c.(760-762)ctC>ctG	p.L254L	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Silent_p.L248L|CPSF3L_uc009vjz.1_Silent_p.L226L|CPSF3L_uc010nyj.1_Silent_p.L219L|CPSF3L_uc001aeg.1_Silent_p.L124L|CPSF3L_uc001aeh.1_Silent_p.L147L|CPSF3L_uc001aei.1_Silent_p.L150L|CPSF3L_uc001aek.1_5'UTR			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	248						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGAGGATGCAGAGCTCCTGGG	0.667												
THEM5	284486	broad.mit.edu	37	1	151820732	151820732	+	Silent	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr1:151820732G>A	uc021oyw.1	-	3	633	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	167							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGTCTCGTCCATCATGG	0.587												
MUC2	4583	broad.mit.edu	37	11	1096432	1096432	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:1096432G>A	uc001lsx.1	+	35	6472	c.6445G>A	c.(6445-6447)Gtg>Atg	p.V2149M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4515						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGCCCCTCCGTGGACAACTT	0.607												
PTPRJ	5795	broad.mit.edu	37	11	48145364	48145364	+	Silent	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:48145364G>A	uc001ngp.4	+	4	1171	c.816G>A	c.(814-816)ccG>ccA	p.P272P	PTPRJ_uc001ngo.4_Silent_p.P272P	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	272	Fibronectin type-III 2.|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATCAACCCGTATCTTCTAC	0.473												
SPDYC	387778	broad.mit.edu	37	11	64939756	64939756	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:64939756C>A	uc010rnz.2	+	3	298	c.298C>A	c.(298-300)Cac>Aac	p.H100N		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	100	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCAGCGCGCCCACCTGAAGCT	0.597												
INTS4	92105	broad.mit.edu	37	11	77632412	77632412	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:77632412G>C	uc001oys.3	-	13	1766	c.1738C>G	c.(1738-1740)Ctt>Gtt	p.L580V	INTS4_uc001oyt.3_Non-coding_Transcript	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	580					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGATGAGAAAGACTGTCTCGG	0.403												
PARP4	143	broad.mit.edu	37	13	25009059	25009059	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr13:25009059C>T	uc001upl.3	-	30	4326	c.4220G>A	c.(4219-4221)aGc>aAc	p.S1407N		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1407					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTGTGCAGAGCTTAATGAGCT	0.542												
GABRB3	2562	broad.mit.edu	37	15	26792999	26792999	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr15:26792999C>T	uc001zbb.3	-	9	1634	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	GABRB3_uc021sgg.1_Missense_Mutation_p.V384M|GABRB3_uc021sgh.1_Missense_Mutation_p.V370M|GABRB3_uc001zaz.3_Missense_Mutation_p.V455M|GABRB3_uc001zba.3_Missense_Mutation_p.V455M	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	455					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V455L(2)|p.V511L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGGAAACACGATCCTGGAC	0.398												
UNC13C	440279	broad.mit.edu	37	15	54305644	54305644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr15:54305644C>T	uc021smr.1	+	0	544	c.544C>T	c.(544-546)Cga>Tga	p.R182*	UNC13C_uc021sms.1_Nonsense_Mutation_p.R182*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	182					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGCTTTACGAAAACTGAG	0.458												
IRF8	3394	broad.mit.edu	37	16	85952286	85952286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr16:85952286G>A	uc002fjh.3	+	6	922	c.865G>A	c.(865-867)Gtc>Atc	p.V289I		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	289					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGGCGTGTTCGTCAAGCGGCT	0.677												
MYH2	4620	broad.mit.edu	37	17	10429979	10429979	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr17:10429979G>C	uc010coi.3	-	29	4252	c.4124C>G	c.(4123-4125)gCc>gGc	p.A1375G	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1375G|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1375					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCCATTGGGCAACCTCGGT	0.567												
NPTX1	4884	broad.mit.edu	37	17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr17:78447110C>T	uc002jyp.1	-	2	945	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	263	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587												
APC2	10297	broad.mit.edu	37	19	1465389	1465389	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:1465389C>T	uc002lsr.1	+	14	2297	c.2089C>T	c.(2089-2091)Cat>Tat	p.H697Y	APC2_uc002lss.1_Missense_Mutation_p.H279Y|APC2_uc002lst.1_Missense_Mutation_p.H697Y|APC2_uc002lsu.1_Missense_Mutation_p.H696Y|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	697					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCTGCTGGCCCATCGGCCCGC	0.716												
PLIN4	729359	broad.mit.edu	37	19	4512541	4512541	+	Silent	SNP	C	C	T	rs139885054	by1000genomes	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:4512541C>T	uc002mar.1	-	2	1389	c.1389G>A	c.(1387-1389)gcG>gcA	p.A463A	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	463	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCGCAGCACCGG	0.577												
CD209	30835	broad.mit.edu	37	19	7810925	7810925	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:7810925G>A	uc002mht.2	-	3	294	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CD209_uc010xju.1_Missense_Mutation_p.A76V|CD209_uc010dvp.2_Missense_Mutation_p.A52V|CD209_uc002mhr.2_Missense_Mutation_p.A52V|CD209_uc002mhs.2_Missense_Mutation_p.A52V|CD209_uc002mhu.2_Missense_Mutation_p.A76V|CD209_uc010dvq.2_Missense_Mutation_p.A76V|CD209_uc002mhq.2_Missense_Mutation_p.A76V|CD209_uc002mhv.2_Missense_Mutation_p.A52V|CD209_uc002mhx.2_Missense_Mutation_p.A32V|CD209_uc002mhw.2_Missense_Mutation_p.A32V|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	76					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGGTAGATCGCGTCTTGCCT	0.507												
HNRNPL	3191	broad.mit.edu	37	19	39330868	39330868	+	Silent	SNP	T	T	G			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:39330868T>G	uc010xun.2	-	4	461	c.224A>C	c.(223-225)cAc>cCc	p.H75P	HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojk.3_Silent_p.P23P|HNRNPL_uc002ojl.3_Silent_p.P23P|HNRNPL_uc021uuh.1_Silent_p.P367P|HNRNPL_uc021uui.1_Silent_p.P234P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojp.1_Silent_p.P23P			P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 2, mRNA.	367	Gly-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.P367P(1)|p.P234P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGGAGGGGGTGGGGGGTGCC	0.642												
FCGBP	8857	broad.mit.edu	37	19	40432968	40432968	+	Missense_Mutation	SNP	C	C	T	rs142198641	byFrequency	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:40432968C>T	uc002omp.4	-	1	1309	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	434	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTACTTACTCCGGCCGCAATC	0.587												
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498												
HNRPLL	92906	broad.mit.edu	37	2	38812883	38812883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr2:38812883delC	uc021vgc.1	-	2	859	c.449delG	c.(448-450)agcfs	p.S150fs	HNRPLL_uc021vgb.1_Frame_Shift_Del_p.S145fs	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.	150	RRM 1.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10		all_hematologic(82;0.248)				GATCCTTTTGCTTGTAGAATA	0.408												
C2orf89	129293	broad.mit.edu	37	2	85051124	85051124	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr2:85051124C>A	uc010ysl.2	-	5	1376	c.1287G>T	c.(1285-1287)agG>agT	p.R429S	C2orf89_uc002sou.4_Missense_Mutation_p.R380S	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	429						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GGAGTCGCGGCCTCCGCTGTG	0.652												
TSHZ2	128553	broad.mit.edu	37	20	51870755	51870755	+	Missense_Mutation	SNP	C	C	T	rs141985599		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr20:51870755C>T	uc002xwo.3	+	1	1645	c.758C>T	c.(757-759)aCg>aTg	p.T253M	TSHZ2_uc021wex.1_Missense_Mutation_p.T250M	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	253					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGACCCACGAGCTATTCA	0.488												
CASR	846	broad.mit.edu	37	3	121976021	121976021	+	Silent	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr3:121976021G>A	uc003eew.4	+	2	717	c.279G>A	c.(277-279)ctG>ctA	p.L93L	CASR_uc003eev.4_Silent_p.L93L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	93					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.T92M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACTTGACGCTGGGATACAGGA	0.448												
RBM47	54502	broad.mit.edu	37	4	40440364	40440364	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:40440364C>T	uc003gvc.2	-	3	1257	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	RBM47_uc003gvd.2_Missense_Mutation_p.V183I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V145I|RBM47_uc003gvg.1_Missense_Mutation_p.V183I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	183	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTGGCGTAGACGATCACGTCC	0.637												
CSN1S1	1446	broad.mit.edu	37	4	70810660	70810660	+	Silent	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:70810660C>T	uc003hep.1	+	14	544	c.495C>T	c.(493-495)tcC>tcT	p.S165S	CSN1S1_uc003heq.1_Silent_p.S156S|CSN1S1_uc003her.1_Silent_p.S157S	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	165						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CACCGTTTTCCGACATCTCCA	0.423												
FRAS1	80144	broad.mit.edu	37	4	79396642	79396642	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:79396642C>T	uc003hlb.2	+	53	8173	c.7733C>T	c.(7732-7734)aCt>aTt	p.T2578I		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2577	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R2578K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGCAGAGGACTGGGAACCTG	0.542												
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	Missense_Mutation	SNP	C	C	T	rs111700178	by1000genomes	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr5:1593264C>T	uc010itg.1	-	1	273	c.196G>A	c.(196-198)Gca>Aca	p.A66T	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		AGGGCACATGCCTGACCAAAG	0.557												
FBN2	2201	broad.mit.edu	37	5	127800505	127800505	+	Silent	SNP	C	C	T	rs150087436	byFrequency	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr5:127800505C>T	uc003kuu.3	-	5	1177	c.738G>A	c.(736-738)gcG>gcA	p.A246A	FBN2_uc003kuv.2_Silent_p.A213A|FBN2_uc003kuw.4_Silent_p.A246A	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	246	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R245W(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATGGCCCCACGCCCGTCCAA	0.607												
ABLIM3	22885	broad.mit.edu	37	5	148637907	148637907	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr5:148637907G>C	uc003lpy.2	+	23	2243	c.1992G>C	c.(1990-1992)gaG>gaC	p.E664D	ABLIM3_uc003lpz.1_Missense_Mutation_p.E664D|ABLIM3_uc003lqa.1_Missense_Mutation_p.E561D|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.E631D|ABLIM3_uc003lqd.1_Missense_Mutation_p.E569D|ABLIM3_uc003lqe.1_Missense_Mutation_p.E553D|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	664	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTCTGAGTTTGACCGGC	0.517												
LY6G6F	259215	broad.mit.edu	37	6	31675363	31675363	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:31675363C>A	uc003nwb.1	+	1	181	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.L61M	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	61	Ig-like V-type.					integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTTCACCACCCTGGTAGCCCA	0.592												
TBX18	9096	broad.mit.edu	37	6	85446758	85446758	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:85446758G>A	uc003pkl.1	-	7	1469	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	490					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S490S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGACATTCCCGAAATCTGCAT	0.527												
ASCC3	10973	broad.mit.edu	37	6	101037629	101037629	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:101037629C>T	uc003pqk.3	-	35	5760	c.5431G>A	c.(5431-5433)Gaa>Aaa	p.E1811K		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTAGAGGTTCAATGCTGCGA	0.343												
PNLDC1	154197	broad.mit.edu	37	6	160240368	160240368	+	Missense_Mutation	SNP	G	G	A	rs138386704		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:160240368G>A	uc003qsy.1	+	17	1555	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I	PNLDC1_uc003qsx.1_Missense_Mutation_p.V495I	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	495						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCCCCAAACGTCAACTGCCT	0.617												
QKI	9444	broad.mit.edu	37	6	163956153	163956153	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:163956153C>G	uc003qui.3	+	3	1093	c.542C>G	c.(541-543)cCt>cGt	p.P181R	QKI_uc003quj.3_Missense_Mutation_p.P181R|QKI_uc003quh.3_Missense_Mutation_p.P181R|QKI_uc003que.3_Missense_Mutation_p.P181R|QKI_uc003quf.3_Missense_Mutation_p.P181R|QKI_uc003qug.3_Missense_Mutation_p.P181R	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	181					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TTATTGGTACCTGCAGTAAGT	0.333												
EGFR	1956	broad.mit.edu	37	7	55223531	55223533	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55223531_55223533delGTG	uc003tqk.3	+	7	1144_1146	c.898_900delGTG	c.(898-900)gtgdel	p.V301del	EGFR_uc003tqh.3_In_Frame_Del_p.V301del|EGFR_uc003tqi.3_In_Frame_Del_p.V301del|EGFR_uc003tqj.3_In_Frame_Del_p.V301del|EGFR_uc022adm.1_In_Frame_Del_p.V301del|EGFR_uc010kzg.2_In_Frame_Del_p.V256del|EGFR_uc022adn.1_In_Frame_Del_p.V256del|EGFR_uc011kco.2_In_Frame_Del_p.V248del|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	301					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V301V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGGTAATTATGTGGTGACAGATC	0.601		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55241677G>A	uc003tqk.3	+	17	2371	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_uc022adm.1_Missense_Mutation_p.E709K|EGFR_uc010kzg.2_Missense_Mutation_p.E664K|EGFR_uc022adn.1_Missense_Mutation_p.E664K|EGFR_uc011kco.2_Missense_Mutation_p.E656K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709K(39)|p.E709A(18)|p.E709G(10)|p.E709_T710>D(6)|p.E709V(5)|p.E709H(4)|p.E709Q(2)|p.E709fs*1(2)|p.K708E(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.K708M(1)|p.K708R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATCTTGAAGGAAACTGAATT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55241708	55241708	+	Missense_Mutation	SNP	G	G	A	rs121913428		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55241708G>A	uc003tqk.3	+	17	2402	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	EGFR_uc022adm.1_Missense_Mutation_p.G719D|EGFR_uc010kzg.2_Missense_Mutation_p.G674D|EGFR_uc022adn.1_Missense_Mutation_p.G674D|EGFR_uc011kco.2_Missense_Mutation_p.G666D	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	719	Protein kinase.		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G719A(102)|p.G719S(74)|p.G719C(41)|p.G719?(25)|p.G719D(12)|p.L718P(3)|p.G719fs*29(2)|p.L718L(1)|p.G719V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGTGCTGGGCTCCGGTGCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
MUC17	140453	broad.mit.edu	37	7	100678917	100678917	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:100678917C>T	uc003uxp.1	+	2	4273	c.4220C>T	c.(4219-4221)cCg>cTg	p.P1407L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1407	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCACGCCGGTAGTCAGT	0.512												
KCND2	3751	broad.mit.edu	37	7	120386073	120386073	+	Silent	SNP	G	G	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:120386073G>T	uc003vjj.1	+	4	2672	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	569					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAACACCTCTGTCTAACAGGT	0.443												
CEP41	95681	broad.mit.edu	37	7	130038800	130038800	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:130038800C>T	uc003vpz.3	-	10	1101	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	CEP41_uc003vpy.3_Missense_Mutation_p.G114S|CEP41_uc010lmf.3_Missense_Mutation_p.G149S|CEP41_uc003vqa.3_Missense_Mutation_p.G280S|CEP41_uc011kpg.2_Missense_Mutation_p.G264S	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	352					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTGGCGGGGCCGCCACCTGGC	0.562												
RP1L1	94137	broad.mit.edu	37	8	10466088	10466088	+	Silent	SNP	A	A	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr8:10466088A>T	uc003wtc.3	-	3	5749	c.5520T>A	c.(5518-5520)gcT>gcA	p.A1840A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1840					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCCCCTTCAGCCTCCGGGG	0.632												
KCNB2	9312	broad.mit.edu	37	8	73848725	73848725	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr8:73848725A>G	uc003xzb.3	+	2	1723	c.1135A>G	c.(1135-1137)Atg>Gtg	p.M379V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	379					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CACCATCACCATGACCACTGT	0.448												
PTPRD	5789	broad.mit.edu	37	9	8485910	8485910	+	Silent	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr9:8485910C>T	uc003zkk.3	-	27	3650	c.2907G>A	c.(2905-2907)gaG>gaA	p.E969E	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	969	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAATAAGCTGCTCCATCGGGA	0.468										TSP Lung(15;0.13)		
GPR143	4935	broad.mit.edu	37	X	9711677	9711677	+	Missense_Mutation	SNP	G	G	A	rs137852297		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:9711677G>A	uc004cst.2	-	5	843	c.695C>T	c.(694-696)aCg>aTg	p.T232M		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	232	Necessary for its G protein-activation ability and normal distribution of melanosomes.		T -> K (in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non- melanocytic cells).		calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CTCGTTCTCCGTGTAAATGCC	0.383												
WDR13	64743	broad.mit.edu	37	X	48463240	48463240	+	Silent	SNP	G	G	A	rs144018865		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:48463240G>A	uc004dkj.2	+	8	1783	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	WDR13_uc004dkk.2_Silent_p.T334T|WDR13_uc004dkl.4_Silent_p.T334T	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	426						cytoplasm|nucleus		p.V425A(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CGACAGTGACGGGCAGTGAGG	0.622												
GRIPAP1	56850	broad.mit.edu	37	X	48847434	48847434	+	Silent	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:48847434G>A	uc004dly.1	-	6	581	c.546C>T	c.(544-546)acC>acT	p.T182T	GRIPAP1_uc004dlz.3_Silent_p.T72T|GRIPAP1_uc004dma.3_Silent_p.T129T	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	182						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGGCCAGGACGGTGGGGGCCG	0.607												
FMR1NB	158521	broad.mit.edu	37	X	147063166	147063166	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:147063166G>A	uc004fcm.3	+	0	318	c.244G>A	c.(244-246)Gtg>Atg	p.V82M		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	82						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTGTTCGTGTGCTACTA	0.612												
SRPK3	26576	broad.mit.edu	37	X	153049494	153049494	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:153049494G>A	uc004fik.3	+	15	3596	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	SRPK3_uc004fim.3_Intron|SRPK3_uc004fil.3_Missense_Mutation_p.A325T|SRPK3_uc004fin.3_Missense_Mutation_p.A324T|SRPK3_uc010nul.3_Intron	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	325	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					CCCCGGGGGCGCCAGAGCAGG	0.697												
