Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZMYM4	9202	broad.mit.edu	37	1	35854605	35854605	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:35854605A>G	ENST00000314607.6	+	14	2438	c.2358A>G	c.(2356-2358)gtA>gtG	p.V786V	ZMYM4_ENST00000373297.2_Silent_p.V697V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	786					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAAATTGGTACAGAATAATT	0.353000													5	137					0	0	0.029380	0	0
RFX6	222546	broad.mit.edu	37	6	117237179	117237179	+	Silent	SNP	G	G	T	rs112601012	by1000genomes	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:117237179G>T	ENST00000332958.2	+	8	805	c.789G>T	c.(787-789)acG>acT	p.T263T	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	263					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGGTTGATACGCTCATAATGA	0.338000													6	41					0.0581538	0.0592896	0.058154	1	0
IMPG2	50939	broad.mit.edu	37	3	101023064	101023064	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:101023064C>T	ENST00000193391.7	-	3	614	c.427G>A	c.(427-429)Gat>Aat	p.D143N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	143					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGACTCCATCCTCACACAAA	0.413000													83	39					0	0	0.139131	0	0
TNKS2	80351	broad.mit.edu	37	10	93619378	93619378	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:93619378A>G	ENST00000371627.4	+	25	3633	c.3254A>G	c.(3253-3255)aAa>aGa	p.K1085R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1085	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CCAGTTCACAAAGACAGATCT	0.388000													32	23					0	0	0.092188	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827152	5827152	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:5827152C>A	ENST00000381095.3	-	4	1381	c.754G>T	c.(754-756)Ggc>Tgc	p.G252C	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G252C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G272C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G252C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G252C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	252					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCCCCCGAGCCAAAGATGGTC	0.577000													5	47					0.00307968	0.00323459	0.038147	1	0
MSLN	10232	broad.mit.edu	37	16	814656	814656	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:814656C>G	ENST00000566549.1	+	6	727	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	MSLN_ENST00000545450.2_Missense_Mutation_p.L104V|MSLN_ENST00000563941.1_Missense_Mutation_p.L104V|MSLN_ENST00000382862.3_Missense_Mutation_p.L104V			Q13421	MSLN_HUMAN	mesothelin	104					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCTGCGCTGTCTGGCTCACCG	0.677000													28	266					0	0	0.153744	0	0
C1QA	712	broad.mit.edu	37	1	22965874	22965874	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:22965874G>A	ENST00000374642.3	+	3	916	c.712G>A	c.(712-714)Ggc>Agc	p.G238S	C1QA_ENST00000402322.1_Missense_Mutation_p.G238S	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	238	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGTCTTCAGCGGCTTCCTCAT	0.592000													4	40					0	0	0.014758	0	0
HUWE1	10075	broad.mit.edu	37	X	53617988	53617988	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:53617988G>T	ENST00000342160.3	-	33	4524	c.4067C>A	c.(4066-4068)cCt>cAt	p.P1356H	HUWE1_ENST00000218328.8_Missense_Mutation_p.P1356H|HUWE1_ENST00000262854.6_Missense_Mutation_p.P1356H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1356					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GATTGGAGGAGGGTGGGTTAA	0.483000													16	63					5.3912e-06	6.0782e-06	0.175082	1	0
EPS8L2	64787	broad.mit.edu	37	11	724778	724778	+	Silent	SNP	C	C	T	rs149900433		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:724778C>T	ENST00000533256.1	+	17	1884	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	EPS8L2_ENST00000318562.8_Silent_p.F503F|EPS8L2_ENST00000526198.1_Silent_p.F519F|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.F503F			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	503	SH3.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTATGACTTCACAGCCCGAA	0.607000													12	77					0	0	0.043863	0	0
DMD	1756	broad.mit.edu	37	X	32591661	32591661	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:32591661G>T	ENST00000357033.4	-	15	2004	c.1798C>A	c.(1798-1800)Ctt>Att	p.L600I	DMD_ENST00000378677.2_Missense_Mutation_p.L596I|DMD_ENST00000288447.4_Missense_Mutation_p.L592I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	600					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTTTTTGAAGACTTGATAAC	0.338000													24	36					3.65163e-15	5.03606e-15	0.116897	1	0
CCNL2	81669	broad.mit.edu	37	1	1325635	1325635	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:1325635C>T	ENST00000400809.3	-	8	986	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Silent_p.S105S	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	327					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GAGAGAACCCCGAGGTACCAT	0.592000													31	89					0	0	0.163468	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717462	222717462	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:222717462C>A	ENST00000343410.6	-	2	449	c.391G>T	c.(391-393)Ggc>Tgc	p.G131C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	131					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GAGCAGAGGCCCGGGAGATTC	0.582000													78	178					8.34767e-46	1.38553e-45	0.139131	1	0
ADAM20	8748	broad.mit.edu	37	14	70989767	70989767	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:70989767C>A	ENST00000256389.3	-	2	2102	c.1858G>T	c.(1858-1860)Gga>Tga	p.G620*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	570	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GGAATTACTCCCACATTTTCA	0.453000													18	43					1.15919e-05	1.29571e-05	0.049695	1	0
FSCB	84075	broad.mit.edu	37	14	44975043	44975043	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:44975043T>C	ENST00000340446.4	-	1	1439	c.1148A>G	c.(1147-1149)gAa>gGa	p.E383G		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	383	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGACCGAATTTCACCAAGAAG	0.527000													38	67					0	0	0.139131	0	0
DDX58	23586	broad.mit.edu	37	9	32480281	32480281	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:32480281G>A	ENST00000379882.1	-	11	1732	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	DDX58_ENST00000542096.1_Silent_p.F499F|DDX58_ENST00000379868.1_Silent_p.F367F|DDX58_ENST00000379883.2_Silent_p.F570F|DDX58_ENST00000545044.1_Silent_p.F367F			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	570					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CATTGCTGAAGAAGTCTTTCA	0.413000													13	113					0	0	0.146539	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091465	19091465	+	RNA	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:19091465G>A	ENST00000365494.1	+	0	137																											gcgttgcttggctgcaactgc	0.517000													22	489					0	0	0.117977	0	0
OR52E4	390081	broad.mit.edu	37	11	5906244	5906244	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:5906244C>A	ENST00000316987.2	+	1	744	c.722C>A	c.(721-723)aCc>aAc	p.T241N		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTCAATACCTGTGGTTCT	0.403000													50	76					2.29192e-23	3.5136e-23	0.139131	1	0
ABT1	29777	broad.mit.edu	37	6	26598252	26598252	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:26598252G>T	ENST00000274849.1	+	2	383	c.352G>T	c.(352-354)Gcc>Tcc	p.A118S		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	118	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CAAGCGCATAGCCAAGCGCGT	0.577000													8	35					0.000442599	0.000475874	0.058154	1	0
FMNL1	752	broad.mit.edu	37	17	43322352	43322352	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:43322352G>C	ENST00000331495.3	+	21	2941	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	FMNL1_ENST00000587489.1_Missense_Mutation_p.E447Q|FMNL1_ENST00000328118.3_Missense_Mutation_p.E869Q	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	869	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCAGCTGTTGGAGATGAAGTC	0.607000													17	79					0	0	0.175082	0	0
COL27A1	85301	broad.mit.edu	37	9	116930095	116930095	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:116930095G>T	ENST00000356083.3	+	3	651	c.260G>T	c.(259-261)gGc>gTc	p.G87V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	87	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTCCCACGGGCACCGTCATT	0.667000													67	34					1.33801e-20	1.99555e-20	0.139131	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55377322	55377322	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:55377322C>A	ENST00000326321.3	+	7	1096	c.1063C>A	c.(1063-1065)Ctc>Atc	p.L355I	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.L338I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.L355I	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	355					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		cttcatcctcctcctcttctt	0.498000													22	27					1.50039e-11	1.94103e-11	0.062417	1	0
CNOT1	23019	broad.mit.edu	37	16	58559111	58559111	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:58559111C>G	ENST00000317147.5	-	46	7088	c.6756G>C	c.(6754-6756)caG>caC	p.Q2252H	CNOT1_ENST00000569240.1_Missense_Mutation_p.Q2247H|CNOT1_ENST00000245138.4_Missense_Mutation_p.Q1103H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2252					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGCCAAATTCTGGAAGATAT	0.478000													17	134					0	0	0.062417	0	0
DRD2	1813	broad.mit.edu	37	11	113283453	113283453	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:113283453G>T	ENST00000362072.3	-	7	1307	c.963C>A	c.(961-963)agC>agA	p.S321R	DRD2_ENST00000544518.1_Missense_Mutation_p.S320R|DRD2_ENST00000538967.1_Missense_Mutation_p.S323R|DRD2_ENST00000355319.2_Missense_Mutation_p.S323R|DRD2_ENST00000346454.3_Missense_Mutation_p.S292R|DRD2_ENST00000542968.1_Missense_Mutation_p.S321R	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	321	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GTTTGGCGGGGCTGTCGGGAG	0.622000													20	46					1.56442e-22	2.37737e-22	0.163468	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497408	1497408	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:1497408G>A	ENST00000421627.2	+	2	683	c.549G>A	c.(547-549)gcG>gcA	p.A183A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	262					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.A205A(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGGCCGGGCGGACGACCACC	0.667000													2	3					0	0	0.115264	0	0
WDR35	57539	broad.mit.edu	37	2	20175335	20175335	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:20175335C>A	ENST00000345530.3	-	6	641	c.526G>T	c.(526-528)Gca>Tca	p.A176S	WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Missense_Mutation_p.A176S	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	176										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCATTTGCCATTCCAAAA	0.343000													22	11					2.37509e-13	3.19124e-13	0.055883	1	0
CD8A	925	broad.mit.edu	37	2	87017617	87017617	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:87017617C>T	ENST00000409511.2	-	5	1267	c.237G>A	c.(235-237)aaG>aaA	p.K79K	CD8A_ENST00000409781.1_Silent_p.K79K|CD8A_ENST00000538832.1_Silent_p.K120K|CD8A_ENST00000352580.3_Silent_p.K79K|CD8A_ENST00000283635.3_Silent_p.K79K|CD8A_ENST00000456996.2_Silent_p.K79K	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	79	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CCTCGGCCGCCTTGGGCTTGT	0.667000													28	99					0	0	0.086207	0	0
RYR2	6262	broad.mit.edu	37	1	237817625	237817625	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:237817625G>C	ENST00000366574.2	+	52	8193	c.7876G>C	c.(7876-7878)Ggg>Cgg	p.G2626R	RYR2_ENST00000360064.6_Missense_Mutation_p.G2624R|RYR2_ENST00000542537.1_Missense_Mutation_p.G2610R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2626	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G2624W(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGCCTGGAGGGTGGGGAAA	0.383000													24	44					0	0	0.134883	0	0
CSMD1	64478	broad.mit.edu	37	8	3045446	3045446	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:3045446G>T	ENST00000602557.1	-	37	6123	c.5568C>A	c.(5566-5568)tcC>tcA	p.S1856S	CSMD1_ENST00000602723.1_Silent_p.S1856S|CSMD1_ENST00000537824.1_Silent_p.S1855S|CSMD1_ENST00000520002.1_Silent_p.S1856S|CSMD1_ENST00000539096.1_Silent_p.S1855S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Silent_p.S1855S|CSMD1_ENST00000400186.3_Silent_p.S1856S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1856	CUB 11.			IQVISFATEQNWDSL -> DPSDQFCHGAELGLPF (in Ref. 1; AAK73475/AAG52948).		integral to membrane		p.S1584S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGATCTCAAGGGAGTCCCAGT	0.438000													11	30					0.00400662	0.00420394	0.146539	1	0
ERBB4	2066	broad.mit.edu	37	2	212295709	212295709	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:212295709C>G	ENST00000342788.4	-	21	2914	c.2604G>C	c.(2602-2604)ttG>ttC	p.L868F	ERBB4_ENST00000402597.1_Missense_Mutation_p.L858F|ERBB4_ENST00000436443.1_Missense_Mutation_p.L868F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	868	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATCTCCTTCCAAGAGTCTGG	0.398000										TSP Lung(8;0.080)			15	90					0	0	0.049695	0	0
C8orf46	254778	broad.mit.edu	37	8	67422362	67422362	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:67422362G>A	ENST00000305454.3	+	4	753	c.312G>A	c.(310-312)ctG>ctA	p.L104L	C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000480005.1_Silent_p.L104L|C8orf46_ENST00000521495.1_Silent_p.L104L|C8orf46_ENST00000522977.1_Intron	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	104										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CATCAAATCTGTGTGGGAATC	0.433000													16	64					0	0	0.175082	0	0
NOS2	4843	broad.mit.edu	37	17	26125764	26125764	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:26125764G>A	ENST00000313735.6	-	2	305	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	24					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CATTGTTGTTGATGTCTTTTT	0.507000													9	65					0	0	0.093190	0	0
COL6A3	1293	broad.mit.edu	37	2	238275874	238275874	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:238275874C>A	ENST00000295550.4	-	11	5408	c.4956G>T	c.(4954-4956)agG>agT	p.R1652S	COL6A3_ENST00000409809.1_Missense_Mutation_p.R1446S|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1045S|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1446S|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1452S|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1451S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1652	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		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)		GGAAACTGTCCCTCCTGAAGT	0.433000													14	19					1.15088e-07	1.34699e-07	0.146539	1	0
SHC3	53358	broad.mit.edu	37	9	91661855	91661855	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:91661855G>T	ENST00000375835.4	-	8	1323	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	339	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGTAGTATGGGTGGTCTGAGC	0.507000													47	18					1.08114e-33	1.73648e-33	0.139131	1	0
CYLD	1540	broad.mit.edu	37	16	50813606	50813606	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:50813606A>T	ENST00000540145.1	+	9	1584	c.1169A>T	c.(1168-1170)gAg>gTg	p.E390V	CYLD_ENST00000569418.1_Missense_Mutation_p.E387V|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.E387V|CYLD_ENST00000398568.2_Missense_Mutation_p.E387V|CYLD_ENST00000564326.1_Missense_Mutation_p.E387V|CYLD_ENST00000311559.9_Missense_Mutation_p.E390V|CYLD_ENST00000427738.3_Missense_Mutation_p.E390V			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	390	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TCTCTTACAGAGATATCTACA	0.388000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				21	165					0	0	0.076483	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398254	23398254	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:23398254G>T	ENST00000379361.4	+	2	1758	c.898G>T	c.(898-900)Ggc>Tgc	p.G300C		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	300	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACCCTGGCTAGGCCTGCTCGG	0.547000													25	92					3.73988e-18	5.40781e-18	0.116897	1	0
CHRM2	1129	broad.mit.edu	37	7	136700016	136700016	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:136700016G>A	ENST00000445907.2	+	3	932	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.R135Q|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.R135Q|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.R135Q|CHRM2_ENST00000402486.3_Missense_Mutation_p.R135Q|CHRM2_ENST00000453373.1_Missense_Mutation_p.R135Q|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	135					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCAGTCAAGCGGACCACAAAA	0.498000													21	36					0	0	0.076483	0	0
RGAG4	340526	broad.mit.edu	37	X	71351064	71351064	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:71351064C>A	ENST00000545866.1	-	1	694	c.327G>T	c.(325-327)caG>caT	p.Q109H	RGAG4_ENST00000479991.1_Missense_Mutation_p.Q109H|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	109										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TGCTGCGATCCTGGATCACGT	0.682000													9	8					1.58986e-06	1.81798e-06	0.069234	1	0
BAI3	577	broad.mit.edu	37	6	69785913	69785913	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:69785913G>C	ENST00000370598.1	+	17	3284	c.2463G>C	c.(2461-2463)ttG>ttC	p.L821F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	821	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTGTGTATTGTGGGATGACT	0.333000													20	51					0	0	0.099896	0	0
IRS4	8471	broad.mit.edu	37	X	107978597	107978597	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:107978597C>T	ENST00000372129.2	-	1	1054	c.978G>A	c.(976-978)gaG>gaA	p.E326E		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	326	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTCTCATCTTCTCCAAAAACA	0.567000													28	122					0	0	0.153744	0	0
GRB2	2885	broad.mit.edu	37	17	73317755	73317755	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:73317755T>C	ENST00000392562.1	-	5	1235	c.453A>G	c.(451-453)atA>atG	p.I151M	GRB2_ENST00000316615.5_Missense_Mutation_p.I110M|GRB2_ENST00000316804.5_Missense_Mutation_p.I151M|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392563.1_Missense_Mutation_p.I110M|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000392564.1_Missense_Mutation_p.I151M			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	151	SH2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	GCACCTGTTCTATGTCCCGCA	0.478000													19	78					0	0	0.091800	0	0
MID1	4281	broad.mit.edu	37	X	10442753	10442753	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:10442753G>T	ENST00000317552.4	-	6	1451	c.1051C>A	c.(1051-1053)Cct>Act	p.P351T	MID1_ENST00000380780.1_Missense_Mutation_p.P351T|MID1_ENST00000380782.2_Missense_Mutation_p.P351T|MID1_ENST00000380785.1_Missense_Mutation_p.P351T|MID1_ENST00000380787.1_Missense_Mutation_p.P351T|MID1_ENST00000380779.1_Missense_Mutation_p.P351T|MID1_ENST00000453318.2_Missense_Mutation_p.P351T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	351	COS.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTGATTTCAGGAATTAGAACC	0.393000													20	71					1.9806e-07	2.31291e-07	0.069288	1	0
CYFIP1	23191	broad.mit.edu	37	15	22963800	22963800	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:22963800G>T	ENST00000313077.7	+	21	2439	c.2314G>T	c.(2314-2316)Gtc>Ttc	p.V772F	CYFIP1_ENST00000435939.2_Missense_Mutation_p.V341F|CYFIP1_ENST00000560848.1_Missense_Mutation_p.V772F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	772					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CACCCAGCGCGTCTCAGCAGC	0.478000													43	32					8.04919e-23	1.22498e-22	0.139131	1	0
RAB27A	5873	broad.mit.edu	37	15	55516109	55516109	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:55516109T>C	ENST00000396307.2	-	5	696	c.445A>G	c.(445-447)Ata>Gta	p.I149V	RAB27A_ENST00000336787.1_Missense_Mutation_p.I149V|RAB27A_ENST00000564609.1_Missense_Mutation_p.I149V|RAB27A_ENST00000569493.1_Missense_Mutation_p.I149V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	149					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GCGAGTGCTATGGCTTCCTCC	0.398000													72	189					0	0	0.139131	0	0
FAM104B	90736	broad.mit.edu	37	X	55185586	55185586	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:55185586G>T	ENST00000425133.2	-	2	134	c.96C>A	c.(94-96)atC>atA	p.I32I	FAM104B_ENST00000358460.4_Silent_p.I32I|FAM104B_ENST00000489298.1_Silent_p.I31I|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000332132.4_Silent_p.I32I|FAM104B_ENST00000472571.2_Silent_p.I32I|FAM104B_ENST00000477847.2_Silent_p.I29I	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	32										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						AATCCTGAAAGATAGGGTTTC	0.378000													26	45					4.22769e-11	5.44231e-11	0.116897	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130834300	130834300	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:130834300C>A	ENST00000509018.1	-	12	1460	c.1254_splice	c.e12-1	p.A419_splice	RAPGEF6_ENST00000296859.6_Splice_Site_p.A419_splice|RAPGEF6_ENST00000512052.1_Splice_Site_p.A134_splice|RAPGEF6_ENST00000507093.1_Splice_Site_p.A419_splice|RAPGEF6_ENST00000510071.1_Splice_Site_p.A419_splice|FNIP1_ENST00000514667.1_Splice_Site_p.A469_splice|RAPGEF6_ENST00000308008.6_Splice_Site_p.A419_splice|RAPGEF6_ENST00000307984.5_Splice_Site_p.A419_splice	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	419	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCAGGTGTTGCCTAAAAATCC	0.348000													23	16					1.08312e-15	1.4997e-15	0.144211	1	0
RPL13A	23521	broad.mit.edu	37	19	49993733	49993733	+	Splice_Site	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:49993733G>A	ENST00000391857.4	+	4	232	c.154_splice	c.e4-1	p.L52_splice	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	52					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TCTCCCTAGTGAAGTACCTGG	0.622000													7	53					0	0	0.029380	0	0
ROBO1	6091	broad.mit.edu	37	3	78719311	78719311	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:78719311C>A	ENST00000436010.2	-	9	2363	c.1366G>T	c.(1366-1368)Gtt>Ttt	p.V456F	ROBO1_ENST00000464233.1_Missense_Mutation_p.V495F|ROBO1_ENST00000467549.1_Missense_Mutation_p.V459F|ROBO1_ENST00000495273.1_Missense_Mutation_p.V459F			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	495	Ig-like C2-type 5.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGTTGAAACGAGGACTCCA	0.498000													7	13					3.09899e-07	3.58685e-07	0.047766	1	0
GLUL	2752	broad.mit.edu	37	1	182353781	182353781	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:182353781A>G	ENST00000311223.5	-	8	1777	c.881T>C	c.(880-882)cTg>cCg	p.L294P	GLUL_ENST00000331872.6_Missense_Mutation_p.L294P|GLUL_ENST00000417584.2_Missense_Mutation_p.L294P|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.L294P	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	294					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GGCATTGTCCAGGCCTCCCTT	0.522000													29	72					0	0	0.080422	0	0
ACTN1	87	broad.mit.edu	37	14	69445737	69445737	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:69445737T>C	ENST00000193403.6	-	1	420	c.37A>G	c.(37-39)Atg>Gtg	p.M13V	ACTN1_ENST00000538545.2_Missense_Mutation_p.M13V|ACTN1_ENST00000394419.4_Missense_Mutation_p.M13V|ACTN1_ENST00000438964.2_Missense_Mutation_p.M13V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	13	Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCTGGCTGCATGTAATCGTTG	0.607000													30	50					0	0	0.074837	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659825	172659825	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:172659825T>A	ENST00000329198.4	-	2	995	c.722A>T	c.(721-723)tAc>tTc	p.Y241F		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	241	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCACGCCGTAGGCAGGCGC	0.716000													5	5					0	0	0.038147	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614771	175614771	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:175614771A>G	ENST00000348749.5	-	7	982	c.905T>C	c.(904-906)aTg>aCg	p.M302T	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.M220T|CHRNA1_ENST00000261007.5_Missense_Mutation_p.M327T|CHRNA1_ENST00000409219.1_Missense_Mutation_p.M302T	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	327					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GACGAACACCATGGTGAACAG	0.527000													19	125					0	0	0.055883	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133802	55133802	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:55133802G>T	ENST00000257290.5	+	7	1346	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	339	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGTTGTAGAGGTGCGGGCCTA	0.448000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			29	60					2.70662e-09	3.31656e-09	0.144211	1	0
RELN	5649	broad.mit.edu	37	7	103163886	103163886	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:103163886C>T	ENST00000424685.2	-	47	7601	c.7442G>A	c.(7441-7443)tGc>tAc	p.C2481Y	RELN_ENST00000343529.5_Missense_Mutation_p.C2481Y|RELN_ENST00000428762.1_Missense_Mutation_p.C2481Y			P78509	RELN_HUMAN	reelin	2481	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATGTCTATGCAGCCATCCCC	0.478000													22	79					0	0	0.108266	0	0
MPV17L2	84769	broad.mit.edu	37	19	18305825	18305825	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18305825C>G	ENST00000599612.2	+	4	593	c.493C>G	c.(493-495)Caa>Gaa	p.Q165E	MPV17L2_ENST00000534474.2_Missense_Mutation_p.P139R	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	165						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						CGTGCCCCCCCAATTTCGAGT	0.642000													6	245					0	0	0.029380	0	0
SNTG1	54212	broad.mit.edu	37	8	51705360	51705360	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:51705360A>G	ENST00000522124.1	+	19	2186	c.1525A>G	c.(1525-1527)Acc>Gcc	p.T509A	SNTG1_ENST00000518864.1_Missense_Mutation_p.T509A|SNTG1_ENST00000276467.5_Missense_Mutation_p.T472A|SNTG1_ENST00000517473.1_Missense_Mutation_p.T472A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	509					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGCTCTGCTACCACGAGCAA	0.433000													25	56					0	0	0.134883	0	0
DNMT3L	29947	broad.mit.edu	37	21	45678524	45678524	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr21:45678524T>A	ENST00000270172.3	-	6	881	c.398A>T	c.(397-399)aAg>aTg	p.K133M	DNMT3L_ENST00000418993.1_Missense_Mutation_p.K133M	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	133	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGCGTGCACCTTCCCCGAGGT	0.642000													14	20					0	0	0.043863	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666128	133666128	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:133666128G>A	ENST00000310926.4	-	9	1540	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P347S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	423					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCACAGTTGGGGTGGAGCAT	0.483000													15	66					0	0	0.062417	0	0
TMC3	342125	broad.mit.edu	37	15	81635632	81635632	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:81635632G>T	ENST00000558726.1	-	15	1840	c.1705C>A	c.(1705-1707)Caa>Aaa	p.Q569K	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.Q568K|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	568						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATCATTCCTTGGTTGTAGACT	0.353000													16	69					1.36565e-18	1.98294e-18	0.076483	1	0
GLI3	2737	broad.mit.edu	37	7	42005202	42005202	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:42005202C>T	ENST00000395925.3	-	15	3553	c.3469G>A	c.(3469-3471)Gac>Aac	p.D1157N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1157					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATGGGCAGGTCGGTTTTGCTG	0.692000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				30	105					0	0	0.064281	0	0
LIPC	3990	broad.mit.edu	37	15	58840561	58840561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:58840561C>T	ENST00000414170.3	+	7	1128	c.841C>T	c.(841-843)Cga>Tga	p.R281*	LIPC_ENST00000433326.2_Nonsense_Mutation_p.R220*|LIPC_ENST00000356113.6_Nonsense_Mutation_p.R281*|LIPC_ENST00000299022.5_Nonsense_Mutation_p.R281*			P11150	LIPC_HUMAN	lipase, hepatic	281					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CTCCCACGAGCGATCGGTGCA	0.572000													13	135					0	0	0.043863	0	0
DTNA	1837	broad.mit.edu	37	18	32405235	32405235	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:32405235A>G	ENST00000283365.9	+	11	1357	c.1006A>G	c.(1006-1008)Act>Gct	p.T336A	DTNA_ENST00000556414.3_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.T336A|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.T336A|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.T336A|DTNA_ENST00000269191.6_Missense_Mutation_p.T336A|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000554864.3_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000598142.1_Missense_Mutation_p.T336A|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000598774.1_Missense_Mutation_p.T336A	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	336					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CAAAAGTGATACTTGGTAAGT	0.348000													20	159					0	0	0.108266	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744112	140744112	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:140744112C>T	ENST00000518069.1	+	1	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGTAGGACGCAGCTTTTT	0.642000													39	28					0	0	0.139131	0	0
C1QL3	389941	broad.mit.edu	37	10	16563060	16563060	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:16563060A>G	ENST00000298943.3	-	1	944	c.5T>C	c.(4-6)gTg>gCg	p.V2A		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	2						collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAGCAGCAGCACCATCACCAC	0.682000													6	6					0	0	0.069234	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281710	140281710	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:140281710G>T	ENST00000458420.3	+	14	2460	c.2270G>T	c.(2269-2271)tGg>tTg	p.W757L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	757					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TACCGCAACTGGCGTCCGGCT	0.562000										HNSCC(16;0.037)			14	48					0.0202918	0.0208922	0.119110	1	0
CPVL	54504	broad.mit.edu	37	7	29234691	29234691	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:29234691A>T	ENST00000409850.1	-	1	200		c.e1+1		CHN2_ENST00000495789.2_Intron|CHN2_ENST00000222792.6_Intron|CHN2_ENST00000435288.2_Intron|CPVL_ENST00000488891.2_Splice_Site|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Intron			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like						proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GACAGAGCCTACCTGTGGCCA	0.706000													8	26					0	0	0.047766	0	0
COL4A4	1286	broad.mit.edu	37	2	227953497	227953497	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:227953497T>C	ENST00000396625.3	-	22	1702	c.1495A>G	c.(1495-1497)Atg>Gtg	p.M499V	COL4A4_ENST00000329662.7_Missense_Mutation_p.M499V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	499	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGGGCCCATGGGTCCAGGC	0.552000													13	63					0	0	0.160694	0	0
TEX15	56154	broad.mit.edu	37	8	30703622	30703622	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:30703622T>C	ENST00000256246.2	-	1	2986	c.2912A>G	c.(2911-2913)gAa>gGa	p.E971G		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	971										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATGTGCTTTTCTGACTGTGA	0.353000													23	40					0	0	0.153744	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62995788	62995788	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:62995788C>A	ENST00000281156.4	-	1	344	c.66G>T	c.(64-66)gtG>gtT	p.V22V		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GCGACGCATGCACAAAAGATG	0.572000													15	20					1.67942e-08	2.02227e-08	0.175082	1	0
MNDA	4332	broad.mit.edu	37	1	158817648	158817648	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:158817648A>C	ENST00000368141.4	+	6	1379	c.1118A>C	c.(1117-1119)cAa>cCa	p.Q373P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	373	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TTCTGCCTTCAACTGAGAACA	0.443000													6	143					0	0	0.029380	0	0
UTP15	84135	broad.mit.edu	37	5	72873801	72873801	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:72873801A>G	ENST00000296792.4	+	9	1270	c.1015A>G	c.(1015-1017)Att>Gtt	p.I339V	UTP15_ENST00000543251.1_Missense_Mutation_p.I149V|UTP15_ENST00000508491.1_Missense_Mutation_p.I320V	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	339					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCGAACCTTTATTAAAGGAAA	0.378000													28	21					0	0	0.163468	0	0
GGNBP2	79893	broad.mit.edu	37	17	34935751	34935751	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:34935751G>A	ENST00000304718.4	+	8	1238	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	308					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCATCTTTATGAAAGACTGCA	0.423000													28	145					0	0	0.144211	0	0
VGLL3	389136	broad.mit.edu	37	3	87027684	87027684	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:87027684A>T	ENST00000398399.2	-	2	758	c.395T>A	c.(394-396)cTa>cAa	p.L132Q	VGLL3_ENST00000383698.3_Missense_Mutation_p.L132Q	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ACCTCGCCATAGGGGGGTTAG	0.512000													53	75					0	0	0.139131	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735431	55735431	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55735431C>A	ENST00000312345.2	-	1	559	c.509G>T	c.(508-510)tGt>tTt	p.C170F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CGGGATGTCACAAAAGAAATG	0.408000													10	39					6.42651e-13	8.52513e-13	0.080935	1	0
UBBP4	23666	broad.mit.edu	37	17	21730858	21730858	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:21730858C>T	ENST00000584755.1	+	2	557	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R54C|UBBP4_ENST00000584398.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAAGATGGCCGCAGTCTTTC	0.517000													6	55					0	0	0.029380	0	0
SALL2	6297	broad.mit.edu	37	14	21991583	21991583	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:21991583T>C	ENST00000327430.3	-	2	2573	c.2279A>G	c.(2278-2280)gAg>gGg	p.E760G	SALL2_ENST00000450879.2_Missense_Mutation_p.E623G|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	760							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGACAACTCCTCTTCCGGTGA	0.577000													20	23					0	0	0.076483	0	0
GPR15	2838	broad.mit.edu	37	3	98251467	98251467	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:98251467T>C	ENST00000284311.3	+	1	725	c.590T>C	c.(589-591)cTg>cCg	p.L197P		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	197						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ATATGGTCCCTGGTGGCCTTA	0.468000													7	99					0	0	0.029380	0	0
RP1L1	94137	broad.mit.edu	37	8	10466103	10466103	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:10466103T>C	ENST00000382483.3	-	4	5728	c.5505A>G	c.(5503-5505)atA>atG	p.I1835M		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1835					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)		CCGGGGCCTCTATGCCTTCGG	0.637000													56	129					0	0	0.139131	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684477	65684477	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:65684477T>A	ENST00000352385.2	-	11	2326	c.2117A>T	c.(2116-2118)cAg>cTg	p.Q706L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	706	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTCACCTAGCTGGGTCAGCTC	0.607000													18	123					0	0	0.049695	0	0
DMD	1756	broad.mit.edu	37	X	31196064	31196064	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:31196064C>A	ENST00000357033.4	-	71	10453	c.10247G>T	c.(10246-10248)tGg>tTg	p.W3416L	DMD_ENST00000378723.3_Missense_Mutation_p.W348L|DMD_ENST00000378680.2_Intron|DMD_ENST00000361471.4_Intron|DMD_ENST00000378707.3_Missense_Mutation_p.W956L|DMD_ENST00000378677.2_Missense_Mutation_p.W3412L|DMD_ENST00000359836.1_Intron|DMD_ENST00000474231.1_Missense_Mutation_p.W956L|DMD_ENST00000343523.2_Intron|DMD_ENST00000541735.1_Intron|DMD_ENST00000378702.4_Missense_Mutation_p.W348L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3416					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTACTGGCCAGAAGTTGAT	0.418000													6	26					3.09899e-07	3.58685e-07	0.047766	1	0
GPR112	139378	broad.mit.edu	37	X	135429137	135429137	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:135429137C>T	ENST00000394143.1	+	6	3563	c.3272C>T	c.(3271-3273)gCc>gTc	p.A1091V	GPR112_ENST00000287534.4_Missense_Mutation_p.A1028V|GPR112_ENST00000370652.1_Missense_Mutation_p.A1091V|GPR112_ENST00000394141.1_Missense_Mutation_p.A886V|GPR112_ENST00000412101.1_Missense_Mutation_p.A886V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1091					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A1091V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTTCAGAGGCCACGGTAATC	0.478000													83	70					0	0	0.139131	0	0
OR51B6	390058	broad.mit.edu	37	11	5372961	5372961	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:5372961C>T	ENST00000380219.1	+	1	224	c.224C>T	c.(223-225)aCa>aTa	p.T75I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATTGACCACAATGCCCACA	0.463000													28	59					0	0	0.116897	0	0
OTC	5009	broad.mit.edu	37	X	38262994	38262994	+	Splice_Site	SNP	G	G	T	rs68170503		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:38262994G>T	ENST00000039007.4	+	6	815		c.e6+1		TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase						arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TACTCCAAAGGTAGGGAAACT	0.453000													17	54					8.00594e-06	8.99699e-06	0.043863	1	0
CLDN12	9069	broad.mit.edu	37	7	90042003	90042003	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:90042003G>A	ENST00000535571.1	+	2	322	c.13G>A	c.(13-15)Gat>Aat	p.D5N	CLDN12_ENST00000287916.4_Missense_Mutation_p.D5N|CLDN12_ENST00000394605.2_Missense_Mutation_p.D5N	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	5					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						GGGCTGTCGGGATGTCCACGC	0.532000													31	39					0	0	0.092188	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970596	45970596	+	Nonsense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr21:45970596G>C	ENST00000391621.1	-	1	792	c.746C>G	c.(745-747)tCa>tGa	p.S249*	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	249						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CTTTTGGCCTGAGGAAAAGCT	0.677000													15	75					0	0	0.160694	0	0
RAG1	5896	broad.mit.edu	37	11	36597395	36597395	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:36597395A>G	ENST00000299440.5	+	2	2653	c.2541A>G	c.(2539-2541)aaA>aaG	p.K847K		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	847					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGAACCTCAAACCAATCATGA	0.478000									Familial Hemophagocytic Lymphohistiocytosis				8	44					0	0	0.058154	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:86369289G>T	ENST00000400286.2	-	2	1953	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	452						integral to membrane		p.P452Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAAGGTTCCTGGCAGTATTTC	0.358000													5	38					0.000602214	0.000643513	0.014758	1	0
KCNT1	57582	broad.mit.edu	37	9	138669354	138669354	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:138669354C>T	ENST00000298480.5	+	21	2594	c.2520C>T	c.(2518-2520)aaC>aaT	p.N840N	KCNT1_ENST00000491806.2_Silent_p.N807N|KCNT1_ENST00000263604.3_Silent_p.N821N|KCNT1_ENST00000487664.1_Silent_p.N795N|KCNT1_ENST00000488444.2_Silent_p.N821N|KCNT1_ENST00000371757.2_Silent_p.N840N|KCNT1_ENST00000490355.2_Silent_p.N819N|KCNT1_ENST00000486577.2_Silent_p.N799N			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	840						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGCTGGACAACAAGTGAGGCT	0.657000													21	13					0	0	0.076483	0	0
CRTC2	200186	broad.mit.edu	37	1	153924717	153924717	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:153924717C>A	ENST00000368633.1	-	10	901	c.774G>T	c.(772-774)caG>caT	p.Q258H	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	258					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CATTGGCAGGCTGGTCAGGAG	0.577000													43	54					8.00217e-19	1.17006e-18	0.139131	1	0
SV2B	9899	broad.mit.edu	37	15	91801761	91801761	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:91801761G>C	ENST00000394232.1	+	5	1365	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	SV2B_ENST00000545111.2_Missense_Mutation_p.E148Q|SV2B_ENST00000330276.4_Missense_Mutation_p.E299Q	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	299					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTTCATGCCAGAGAGCCCAAG	0.552000													9	121					0	0	0.058154	0	0
PSMD10	5716	broad.mit.edu	37	X	107328312	107328312	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:107328312C>A	ENST00000217958.3	-	5	670	c.573G>T	c.(571-573)ctG>ctT	p.L191L	PSMD10_ENST00000372295.1_Silent_p.L150L|PSMD10_ENST00000361815.5_3'UTR|PSMD10_ENST00000340200.5_Silent_p.L158L|PSMD10_ENST00000372296.1_3'UTR	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	191	Interaction with RB1.|Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTTGGGACACCAGCAGTTTTG	0.443000													7	126					3.09899e-07	3.58685e-07	0.047766	1	0
CALB2	794	broad.mit.edu	37	16	71423712	71423712	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:71423712G>T	ENST00000302628.4	+	11	837	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	254	EF-hand 6.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GGCAGAGGCAGGGAAGCTCTA	0.552000													17	123					6.49762e-13	8.60852e-13	0.175082	1	0
DPAGT1	1798	broad.mit.edu	37	11	118971834	118971834	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:118971834C>T	ENST00000409993.2	-	4	1727	c.176G>A	c.(175-177)gGa>gAa	p.G59E	DPAGT1_ENST00000432443.2_Intron|DPAGT1_ENST00000445653.1_Intron|DPAGT1_ENST00000354202.4_Missense_Mutation_p.G59E			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	59					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCTGATCACTCCCTGGGATTC	0.557000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	36					0	0	0.038147	0	0
OTP	23440	broad.mit.edu	37	5	76926342	76926342	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:76926342G>T	ENST00000306422.3	-	3	1863	c.725C>A	c.(724-726)gCg>gAg	p.A242E		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A242E(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CGGACCGGCCGCCAGGCTGCA	0.746000													9	5					1.08611e-07	1.27404e-07	0.080935	1	0
KLC3	147700	broad.mit.edu	37	19	45851263	45851263	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:45851263G>A	ENST00000470402.1	+	4	766	c.666G>A	c.(664-666)cgG>cgA	p.R222R	KLC3_ENST00000585434.1_Silent_p.R207R|KLC3_ENST00000391946.2_Silent_p.R208R			Q6P597	KLC3_HUMAN	kinesin light chain 3	208						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCCGCCTTCGGACCCTGCATA	0.677000													5	23					0	0	0.029380	0	0
LRP1B	53353	broad.mit.edu	37	2	141762928	141762928	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:141762928C>A	ENST00000389484.3	-	15	3450	c.2479G>T	c.(2479-2481)Gat>Tat	p.D827Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	827	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTTTCATCCAAAAGTTGA	0.428000										TSP Lung(27;0.18)			7	44					2.0095e-06	2.28531e-06	0.029380	1	0
NBEA	26960	broad.mit.edu	37	13	36046592	36046592	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:36046592G>T	ENST00000540320.1	+	41	7038	c.6504G>T	c.(6502-6504)aaG>aaT	p.K2168N	NBEA_ENST00000379939.2_Missense_Mutation_p.K2165N|NBEA_ENST00000310336.4_Missense_Mutation_p.K2168N|NBEA_ENST00000400445.3_Missense_Mutation_p.K2168N			Q8NFP9	NBEA_HUMAN	neurobeachin	2168						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGTGGCCAAGGGGACTCTCT	0.567000													22	27					1.64293e-13	2.21319e-13	0.083992	1	0
PROKR1	10887	broad.mit.edu	37	2	68882544	68882544	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:68882544C>G	ENST00000303786.3	+	3	1438	c.1018C>G	c.(1018-1020)Ctg>Gtg	p.L340V	PROKR1_ENST00000394342.2_Missense_Mutation_p.L340V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	340						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GATCAACACTCTGTGCTTCGT	0.507000													19	55					0	0	0.091800	0	0
HEATR5B	54497	broad.mit.edu	37	2	37283652	37283652	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:37283652C>T	ENST00000233099.5	-	16	2425	c.2330G>A	c.(2329-2331)gGa>gAa	p.G777E	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G777E	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	777							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACTGAGACTCCGAGAGGGAG	0.458000													34	94					0	0	0.104719	0	0
FBXW9	84261	broad.mit.edu	37	19	12805683	12805683	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:12805683C>A	ENST00000380339.3	-	2	515	c.479G>T	c.(478-480)gGg>gTg	p.G160V	FBXW9_ENST00000587955.1_Missense_Mutation_p.G150V|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Missense_Mutation_p.G160V			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	160							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GACCCAGCGCCCATCCTCTGC	0.642000													4	25					1.23904e-05	1.38201e-05	0.014758	1	0
UBE4A	9354	broad.mit.edu	37	11	118239392	118239392	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:118239392G>C	ENST00000252108.3	+	3	299	c.168G>C	c.(166-168)gaG>gaC	p.E56D	UBE4A_ENST00000431736.2_Missense_Mutation_p.E56D	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	56					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCGTGTCAGAGAGCCTGGATG	0.443000													6	295					0	0	0.029380	0	0
NUP98	4928	broad.mit.edu	37	11	3794932	3794932	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:3794932A>C	ENST00000324932.7	-	6	953	c.533T>G	c.(532-534)gTt>gGt	p.V178G	NUP98_ENST00000397007.4_Missense_Mutation_p.V178G|NUP98_ENST00000397004.4_Missense_Mutation_p.V178G|NUP98_ENST00000359171.4_Missense_Mutation_p.V178G|NUP98_ENST00000355260.3_Missense_Mutation_p.V178G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	178	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTTAGTGCTAACTCCAGCTTT	0.378000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								42	21					0	0	0.139131	0	0
MYH8	4626	broad.mit.edu	37	17	10298475	10298475	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:10298475T>C	ENST00000403437.2	-	34	5031	c.4937A>G	c.(4936-4938)tAc>tGc	p.Y1646C	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1646					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.Y1646C(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTGTTCCTGTAGTTCCTTAA	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				6	106					0	0	0.038147	0	0
C1QA	712	broad.mit.edu	37	1	22965875	22965875	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:22965875G>T	ENST00000374642.3	+	3	917	c.713G>T	c.(712-714)gGc>gTc	p.G238V	C1QA_ENST00000402322.1_Missense_Mutation_p.G238V	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	238	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCTTCAGCGGCTTCCTCATC	0.587000													4	40					0.000602214	0.000643513	0.014758	1	0
USP40	55230	broad.mit.edu	37	2	234442344	234442344	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:234442344C>A	ENST00000251722.6	-	11	1366	c.1249G>T	c.(1249-1251)Gct>Tct	p.A417S	USP40_ENST00000427112.2_Missense_Mutation_p.A417S|USP40_ENST00000450966.1_Missense_Mutation_p.A429S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	417					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCAGACTCAGCCTGGAGAGAA	0.403000													6	25					3.59834e-05	3.96272e-05	0.021553	1	0
ALAS2	212	broad.mit.edu	37	X	55047622	55047622	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:55047622A>T	ENST00000330807.5	-	5	638	c.501T>A	c.(499-501)acT>acA	p.T167T	ALAS2_ENST00000335854.4_Silent_p.T130T|ALAS2_ENST00000396198.3_Silent_p.T154T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	167					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AGCGGTTCACAGTCTTGAACA	0.473000													33	82					0	0	0.080422	0	0
EMR1	2015	broad.mit.edu	37	19	6890521	6890521	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:6890521C>A	ENST00000312053.4	+	2	98	c.61C>A	c.(61-63)Cac>Aac	p.H21N	EMR1_ENST00000250572.8_Missense_Mutation_p.H21N|EMR1_ENST00000450315.3_Missense_Mutation_p.H21N|EMR1_ENST00000381404.4_Missense_Mutation_p.H21N|EMR1_ENST00000381407.5_Missense_Mutation_p.H21N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	21					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGGGAAGGGCACATAAGACC	0.428000													5	25					2.7689e-08	3.31886e-08	0.029380	1	0
FMN2	56776	broad.mit.edu	37	1	240255781	240255781	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:240255781G>C	ENST00000319653.9	+	1	602	c.372G>C	c.(370-372)tcG>tcC	p.S124S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	124					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAGCCTCTCGGCGGACGAGG	0.692000													4	1					0	0	0.014758	0	0
LIMA1	51474	broad.mit.edu	37	12	50586328	50586328	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:50586328C>G	ENST00000547825.1	-	3	1410	c.141G>C	c.(139-141)aaG>aaC	p.K47N	LIMA1_ENST00000394943.3_Missense_Mutation_p.K350N|LIMA1_ENST00000341247.4_Missense_Mutation_p.K349N|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552491.1_Missense_Mutation_p.K47N|LIMA1_ENST00000552783.1_Missense_Mutation_p.K190N|LIMA1_ENST00000552823.1_Missense_Mutation_p.K189N|LIMA1_ENST00000552909.1_Missense_Mutation_p.K189N	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	349					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAACCTCACTCTTAACCTGGG	0.448000													3	66					0	0	0.014758	0	0
BMPR2	659	broad.mit.edu	37	2	203424547	203424547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:203424547G>T	ENST00000374580.4	+	13	3534	c.2995G>T	c.(2995-2997)Gaa>Taa	p.E999*	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	999					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCTGGACTGTGAAGTCAACAA	0.483000													17	51					4.35082e-09	5.28784e-09	0.055883	1	0
LRRN1	57633	broad.mit.edu	37	3	3887802	3887802	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:3887802G>A	ENST00000319331.3	+	2	2238	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	493	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACAAATTGAAGACTCAGGAAG	0.438000													11	56					0	0	0.093190	0	0
NCAPG2	54892	broad.mit.edu	37	7	158455020	158455020	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:158455020T>C	ENST00000409339.3	-	16	1968	c.1855A>G	c.(1855-1857)Atg>Gtg	p.M619V	NCAPG2_ENST00000541468.1_Missense_Mutation_p.M120V|NCAPG2_ENST00000449727.2_Missense_Mutation_p.M619V|NCAPG2_ENST00000409423.1_Missense_Mutation_p.M619V|NCAPG2_ENST00000356309.3_Missense_Mutation_p.M619V|NCAPG2_ENST00000275830.10_Missense_Mutation_p.M411V			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	619					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAACCTGCCATGCATGCAACA	0.328000													7	46					0	0	0.038147	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745498	77745498	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:77745498C>A	ENST00000409088.3	-	3	1911	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S	LRRTM4_ENST00000409911.1_Silent_p.S500S|LRRTM4_ENST00000409093.1_Silent_p.S499S|LRRTM4_ENST00000409884.1_Silent_p.S499S|LRRTM4_ENST00000409282.1_Silent_p.S500S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	499						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATCCATTAACCGATATATCCA	0.463000													10	11					0.000673444	0.000717424	0.069234	1	0
REG1A	5967	broad.mit.edu	37	2	79350055	79350055	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:79350055G>T	ENST00000233735.1	+	5	513	c.410G>T	c.(409-411)tGt>tTt	p.C137F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	137	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.C137F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCTGGCTACTGTGTGAGCCTG	0.567000													29	45					3.1745e-13	4.23266e-13	0.134883	1	0
INHBA	3624	broad.mit.edu	37	7	41729708	41729708	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:41729708C>A	ENST00000242208.4	-	3	1067	c.821G>T	c.(820-822)gGa>gTa	p.G274V	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.G274V|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	274					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.G274V(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						accttcacctccgcccttctt	0.592000										TSP Lung(11;0.080)			4	21					0.00909568	0.00942988	0.150653	1	0
CBLN1	869	broad.mit.edu	37	16	49313338	49313338	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:49313338C>G	ENST00000219197.6	-	3	924	c.559G>C	c.(559-561)Gga>Cga	p.G187R	CBLN1_ENST00000536749.1_Missense_Mutation_p.G187R	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	187	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				ACCAGGAATCCGGAGAAGGTC	0.567000													10	100					0	0	0.093190	0	0
ABCA6	23460	broad.mit.edu	37	17	67114099	67114099	+	Splice_Site	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:67114099T>A	ENST00000284425.2	-	11	1611		c.e11-2			NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTCTGATTCTGAAATAACAA	0.343000													16	26					0	0	0.049695	0	0
PSG8	440533	broad.mit.edu	37	19	43257524	43257524	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:43257524C>A	ENST00000404209.4	-	6	1344	c.1248G>T	c.(1246-1248)tgG>tgT	p.W416C	PSG8_ENST00000406636.3_Missense_Mutation_p.W294C|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Missense_Mutation_p.W323C	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	416						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				agggtaatgtccagtctacag	0.383000													14	68					0.000422831	0.000455558	0.146539	1	0
PTPRS	5802	broad.mit.edu	37	19	5218454	5218454	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:5218454C>G	ENST00000372412.4	-	25	4261	c.4028G>C	c.(4027-4029)aGa>aCa	p.R1343T	PTPRS_ENST00000348075.2_Missense_Mutation_p.R1320T|PTPRS_ENST00000353284.2_Missense_Mutation_p.R911T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1338T|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1320T|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1342T|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1342T|PTPRS_ENST00000592099.1_Missense_Mutation_p.R911T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1342					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTTAATGCGTCTCATTTCCAC	0.552000													13	246					0	0	0.160694	0	0
CHDC2	286464	broad.mit.edu	37	X	36117908	36117908	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:36117908A>C	ENST00000378660.1	+	7	952	c.764A>C	c.(763-765)aAg>aCg	p.K255T	CHDC2_ENST00000313548.4_Missense_Mutation_p.K255T					calponin homology domain containing 2																		TGTACACCTAAGAAAAAATGT	0.313000													7	51					0	0	0.058154	0	0
MTOR	2475	broad.mit.edu	37	1	11298459	11298459	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:11298459C>A	ENST00000361445.4	-	12	2078	c.2002_splice	c.e12+1	p.D668_splice		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	668					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAAGCCTTACCAGGATCTGTT	0.507000													42	81					8.00217e-19	1.17006e-18	0.139131	1	0
GCC2	9648	broad.mit.edu	37	2	109085530	109085530	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:109085530A>T	ENST00000309863.6	+	5	1025	c.311A>T	c.(310-312)cAa>cTa	p.Q104L		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	104					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAATGAAGCAAGAGGTTGAG	0.313000													20	54					0	0	0.083992	0	0
ANKH	56172	broad.mit.edu	37	5	14769157	14769157	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:14769157C>G	ENST00000284268.6	-	2	570	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	80					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCTGTCTCTCTTGCTGTTCA	0.572000													5	51					0	0	0.132662	0	0
PRKRA	8575	broad.mit.edu	37	2	179315099	179315099	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179315099C>T	ENST00000325748.4	-	2	305	c.105G>A	c.(103-105)ccG>ccA	p.P35P	PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000432031.2_Silent_p.P24P|PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000487082.1_Silent_p.P10P	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	35	DRBM 1.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATACCTGAATCGGTGTTTTCC	0.428000													31	347					0	0	0.069456	0	0
PIGL	9487	broad.mit.edu	37	17	16220021	16220021	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:16220021C>T	ENST00000225609.5	+	5	538	c.521C>T	c.(520-522)cCt>cTt	p.P174L	PIGL_ENST00000498772.2_Missense_Mutation_p.P174L|PIGL_ENST00000581006.1_Intron|PIGL_ENST00000395844.3_Intron	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	174					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GGGAAGTTACCTAAAGGTAAG	0.493000													26	54					0	0	0.183431	0	0
NYAP2	57624	broad.mit.edu	37	2	226447034	226447034	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:226447034G>T	ENST00000272907.6	+	4	1314	c.901G>T	c.(901-903)Gtg>Ttg	p.V301L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	301																	TACTCCCACGGTGCCTGACTT	0.572000													14	64					1.3612e-06	1.56336e-06	0.132662	1	0
CREB3L3	84699	broad.mit.edu	37	19	4170148	4170148	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:4170148G>T	ENST00000078445.2	+	7	980	c.833G>T	c.(832-834)tGc>tTc	p.C278F	CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.C276F|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L242F|CREB3L3_ENST00000595923.1_Missense_Mutation_p.C277F	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	278	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCAGCTTGCACTGCTCAG	0.552000													23	78					1.74197e-06	1.98974e-06	0.116897	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213277908	213277908	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:213277908C>T	ENST00000366960.3	+	4	525	c.375C>T	c.(373-375)ttC>ttT	p.F125F	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Silent_p.F113F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	125	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAGACTTTTTCAAGGTTTGGT	0.303000													11	65					0	0	0.080935	0	0
ITGAM	3684	broad.mit.edu	37	16	31276762	31276762	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:31276762G>T	ENST00000544665.3	+	3	252	c.181G>T	c.(181-183)Ggc>Tgc	p.G61C	ITGAM_ENST00000287497.8_Missense_Mutation_p.G61C	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	61					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAACCAAAGGGGCAGCCTCTA	0.622000													3	22					0.115264	0.117058	0.115264	1	0
ZNF536	9745	broad.mit.edu	37	19	30935569	30935569	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:30935569A>G	ENST00000355537.3	+	2	1247	c.1100A>G	c.(1099-1101)cAc>cGc	p.H367R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGCGCAAGCACAAAGACTCC	0.612000													35	146					0	0	0.086207	0	0
RIF1	55183	broad.mit.edu	37	2	152319895	152319895	+	Silent	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:152319895A>C	ENST00000243326.4	+	29	4344	c.3861A>C	c.(3859-3861)tcA>tcC	p.S1287S	RIF1_ENST00000453091.2_Silent_p.S1287S|RIF1_ENST00000428287.2_Silent_p.S1287S|RIF1_ENST00000444746.2_Silent_p.S1287S|RIF1_ENST00000430328.2_Silent_p.S1287S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1287					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTAAGAGATCAAGCCGGAGAG	0.378000													8	79					0	0	0.058154	0	0
PHGDH	26227	broad.mit.edu	37	1	120284452	120284452	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:120284452G>C	ENST00000369407.3	+	9	2546	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Missense_Mutation_p.E381Q			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	381					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCTCCTGAAAGAGGCTTCCAA	0.577000													12	45					0	0	0.132662	0	0
IL4R	3566	broad.mit.edu	37	16	27370278	27370278	+	Missense_Mutation	SNP	G	G	T	rs55988941	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:27370278G>T	ENST00000395762.2	+	9	1071	c.812G>T	c.(811-813)cGc>cTc	p.R271L	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Missense_Mutation_p.R271L|IL4R_ENST00000170630.2_Missense_Mutation_p.R271L|IL4R_ENST00000380922.3_Missense_Mutation_p.R256L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	271					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AACCCAGCCCGCAGCCGCCTC	0.478000													16	44					2.48551e-13	3.32249e-13	0.160694	1	0
FRMPD1	22844	broad.mit.edu	37	9	37745949	37745949	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:37745949C>A	ENST00000539465.1	+	16	4513	c.3920C>A	c.(3919-3921)tCt>tAt	p.S1307Y	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1307Y			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1307						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTGAAGTCTCTGCCAGTCTC	0.507000													6	35					0.00116845	0.00123467	0.021553	1	0
CCSER2	54462	broad.mit.edu	37	10	86259650	86259650	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:86259650C>G	ENST00000224756.8	+	10	2530	c.2345C>G	c.(2344-2346)tCc>tGc	p.S782C	CCSER2_ENST00000494144.1_Intron|CCSER2_ENST00000372088.2_Intron|CCSER2_ENST00000543283.1_Missense_Mutation_p.S209C	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2									p.S782F(1)									TCTGCTCCCTCCTTCTCTCCT	0.507000													11	87					0	0	0.093190	0	0
LOC494141	494141	broad.mit.edu	37	11	18231236	18231236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:18231236C>T	ENST00000527059.1	+	1	482	c.22C>T	c.(22-24)Caa>Taa	p.Q8*	RP11-113D6.10_ENST00000534640.1_Nonsense_Mutation_p.Q8*|RP11-113D6.10_ENST00000340135.3_Nonsense_Mutation_p.Q8*																							AGAACTTAAGCAACATGATGG	0.333000													4	5					0	0	0.150653	0	0
TTN	7273	broad.mit.edu	37	2	179414326	179414326	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179414326G>A	ENST00000589042.1	-	338	92347	c.92123C>T	c.(92122-92124)tCt>tTt	p.S30708F	TTN_ENST00000342992.6_Missense_Mutation_p.S28140F|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21835F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21768F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29067F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S21643F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29067	Ig-like 138.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGGATCAGAATCAAGTGG	0.378000													20	154					0	0	0.076483	0	0
SMARCA4	6597	broad.mit.edu	37	19	11136108	11136108	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:11136108G>T	ENST00000358026.2	+	22	3376	c.3092G>T	c.(3091-3093)gGc>gTc	p.G1031V	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1031V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1031V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1031V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1031V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1031V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1031V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1031V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1031V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1031					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCAAAGGCGGCACCAAGACC	0.632000			"""F, N, Mis"""		NSCLC								9	67					1.76689e-08	2.12516e-08	0.058154	1	0
PKD1L2	114780	broad.mit.edu	37	16	81194295	81194295	+	RNA	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:81194295C>T	ENST00000533478.1	-	0	1748				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TACCTGGAGCCACCATTGGTA	0.517000													5	20					0	0	0.038147	0	0
CD300LF	146722	broad.mit.edu	37	17	72694570	72694570	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:72694570A>T	ENST00000326165.6	-	4	608	c.497T>A	c.(496-498)tTg>tAg	p.L166*	CD300LF_ENST00000583937.1_Nonsense_Mutation_p.L181*|CD300LF_ENST00000343125.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000581500.1_Nonsense_Mutation_p.L184*|CD300LF_ENST00000301573.9_Silent_p.I181I|CD300LF_ENST00000469092.1_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000464910.1_Nonsense_Mutation_p.L169*|CD300LF_ENST00000361254.4_Nonsense_Mutation_p.L184*	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	166						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AAGCAGCAGCAATATGGTGAA	0.582000													4	35					0	0	0.014758	0	0
ZNF358	140467	broad.mit.edu	37	19	7584121	7584121	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:7584121C>T	ENST00000599312.1	+	2	91	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	ZNF358_ENST00000394341.2_5'UTR|ZNF358_ENST00000597229.1_5'UTR																							GGCACATCCACGCCTGAAATG	0.602000													12	73					0	0	0.146539	0	0
ENPP6	133121	broad.mit.edu	37	4	185018460	185018460	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:185018460C>A	ENST00000296741.2	-	7	1196	c.1055G>T	c.(1054-1056)gGa>gTa	p.G352V		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	352					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GCCGTGCCATCCACGCTGCCA	0.567000													38	73					9.22156e-22	1.39324e-21	0.139131	1	0
TFAP2A	7020	broad.mit.edu	37	6	10404842	10404842	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:10404842G>T	ENST00000379613.3	-	4	925	c.669C>A	c.(667-669)ctC>ctA	p.L223L	TFAP2A_ENST00000379604.2_Silent_p.L221L|TFAP2A_ENST00000379608.3_Silent_p.L215L|TFAP2A_ENST00000482890.1_Silent_p.L221L|TFAP2A_ENST00000319516.4_Silent_p.L217L|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	221					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGTGGAGCTGAGGAGCGAGA	0.622000													15	65					1.02788e-11	1.33471e-11	0.160694	1	0
KIAA1683	80726	broad.mit.edu	37	19	18368153	18368153	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18368153A>C	ENST00000392413.3	-	4	4156	c.3941T>G	c.(3940-3942)tTt>tGt	p.F1314C	KIAA1683_ENST00000600359.2_Missense_Mutation_p.F1081C|KIAA1683_ENST00000600328.2_Missense_Mutation_p.F1127C	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	117						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCGGATCTTAAAGCCCCTCCA	0.622000													12	96					0	0	0.146539	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877928	4877928	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:4877928G>T	ENST00000298375.7	+	4	457	c.386G>T	c.(385-387)cGa>cTa	p.R129L	AKR1E2_ENST00000532248.1_Missense_Mutation_p.R129L|AKR1E2_ENST00000334019.4_Missense_Mutation_p.R129L|AKR1E2_ENST00000345253.5_Missense_Mutation_p.R129L|AKR1E2_ENST00000525281.1_3'UTR	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TCACATCCTCGAGTGCAGGAC	0.532000													33	37					1.30998e-17	1.86579e-17	0.080422	1	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124824	26124824	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:26124824G>C	ENST00000602637.1	+	1	394	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E122Q			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	122					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TAAGAAGACCGAGAGTCACCA	0.562000													14	47					0	0	0.175082	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779211	205779211	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:205779211A>G	ENST00000367137.3	-	2	1373	c.359T>C	c.(358-360)tTg>tCg	p.L120S		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	120						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CACGATGTCCAACACCATGCC	0.582000													13	53					0	0	0.093190	0	0
SPATS1	221409	broad.mit.edu	37	6	44336233	44336233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:44336233C>A	ENST00000288390.2	+	5	1039	c.692C>A	c.(691-693)tCa>tAa	p.S231*	SPATS1_ENST00000323108.8_Nonsense_Mutation_p.S231*			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	231										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGAATTTTTCAATGTAAGTG	0.353000													6	69					0.0293803	0.0300716	0.029380	1	0
TTN	7273	broad.mit.edu	37	2	179434807	179434807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179434807C>T	ENST00000589042.1	-	326	76276	c.76052G>A	c.(76051-76053)tGg>tAg	p.W25351*	TTN_ENST00000342992.6_Nonsense_Mutation_p.W22783*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W16478*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W16411*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W23710*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W16286*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23710	Fibronectin type-III 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCTTGTCCATCTAATGCC	0.418000													11	58					0	0	0.105934	0	0
TSACC	128229	broad.mit.edu	37	1	156316642	156316642	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156316642C>G	ENST00000368255.3	+	4	607	c.247C>G	c.(247-249)Cag>Gag	p.Q83E	TSACC_ENST00000368254.1_Missense_Mutation_p.Q83E|TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368252.1_Missense_Mutation_p.Q83E|TSACC_ENST00000368251.1_Missense_Mutation_p.Q83E|TSACC_ENST00000368253.1_Missense_Mutation_p.Q83E	NM_144627.3	NP_653228.1			TSSK6 activating co-chaperone																		CGCCCAACAACAGATGGCTGT	0.488000													11	207					0	0	0.132662	0	0
DDX18	8886	broad.mit.edu	37	2	118575196	118575196	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:118575196C>A	ENST00000263239.2	+	2	390	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	88							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGTCTCCCCAGAAATCCAC	0.363000													9	100					2.17888e-05	2.41481e-05	0.058154	1	0
NEK8	284086	broad.mit.edu	37	17	27061141	27061141	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:27061141T>C	ENST00000268766.6	+	2	222	c.188T>C	c.(187-189)gTc>gCc	p.V63A	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	63	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CACCCCAATGTCATTGAGTAC	0.542000													71	75					0	0	0.139131	0	0
CMSS1	84319	broad.mit.edu	37	3	99891180	99891180	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:99891180G>A	ENST00000421999.2	+	8	746	c.600G>A	c.(598-600)ttG>ttA	p.L200L	CMSS1_ENST00000489081.1_Silent_p.L182L	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		AGGTAAAGTTGCTGGAGAAGC	0.433000													6	58					0	0	0.029380	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186487	37186487	+	RNA	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:37186487G>A	ENST00000425901.2	+	0	329					NR_033753.2																						AGGAGGCTGAGTCTTCTCCAG	0.552000													7	57					0	0	0.029380	0	0
CRTAM	56253	broad.mit.edu	37	11	122738263	122738263	+	Splice_Site	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:122738263G>C	ENST00000227348.4	+	8	1011	c.964_splice	c.e8+1	p.E322_splice	CRTAM_ENST00000533709.1_Splice_Site_p.E123_splice	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	322					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATGGAAGAAAGGTCAGTGGGC	0.458000													6	38					0	0	0.021553	0	0
ANKH	56172	broad.mit.edu	37	5	14769270	14769270	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:14769270C>G	ENST00000284268.6	-	2	457	c.127G>C	c.(127-129)Gag>Cag	p.E43Q		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	43					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACTGCATCCTCCTTGACAGCA	0.522000													7	26					0	0	0.029380	0	0
IRX1	79192	broad.mit.edu	37	5	3599344	3599344	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:3599344G>C	ENST00000302006.3	+	2	334	c.282G>C	c.(280-282)tcG>tcC	p.S94S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	94						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S94S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCAGGGCTCGCAGTATGAAC	0.607000													20	16					0	0	0.099896	0	0
CFC1	55997	broad.mit.edu	37	2	131356263	131356263	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:131356263C>T	ENST00000259216.4	-	3	461	c.199G>A	c.(199-201)Ggc>Agc	p.G67S		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	67					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane				endometrium(1)|lung(4)	5	Colorectal(110;0.1)					GGCCCCCAGCCCTCGGCGCTC	0.632000													19	53					0	0	0.173368	0	0
RASA2	5922	broad.mit.edu	37	3	141328870	141328870	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:141328870T>C	ENST00000286364.3	+	23	2516	c.2481T>C	c.(2479-2481)taT>taC	p.Y827Y	RASA2_ENST00000452898.1_Silent_p.Y828Y			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	827					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATGAAAAATATAGGAAGAAAA	0.323000													50	16					0	0	0.139131	0	0
MIR299	407023	broad.mit.edu	37	14	101490172	101490172	+	RNA	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:101490172G>T	ENST00000385016.2	+	0	59					NR_029841.1																						GAATATGTATGTGGGATGGTA	0.527000													34	39					8.20599e-20	1.21691e-19	0.124865	1	0
LRFN5	145581	broad.mit.edu	37	14	42360851	42360851	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:42360851G>C	ENST00000298119.4	+	4	2973	c.1784G>C	c.(1783-1785)gGa>gCa	p.G595A	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	595						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAAGCTGTGGGACACGAAGAG	0.473000										HNSCC(30;0.082)			22	33					0	0	0.125774	0	0
ABCA7	10347	broad.mit.edu	37	19	1043466	1043466	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:1043466G>C	ENST00000263094.6	+	9	1155	c.924G>C	c.(922-924)atG>atC	p.M308I	ABCA7_ENST00000435683.2_Missense_Mutation_p.M170I|ABCA7_ENST00000433129.1_Missense_Mutation_p.M308I	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	308					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGAAGCTCATGGCCCAGGTGG	0.652000													33	95					0	0	0.092188	0	0
NTNG2	84628	broad.mit.edu	37	9	135114648	135114648	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:135114648C>T	ENST00000393229.3	+	6	1988	c.1212C>T	c.(1210-1212)aaC>aaT	p.N404N	NTNG2_ENST00000393228.4_Silent_p.N396N|NTNG2_ENST00000360670.3_Silent_p.N410N	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	404	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ATGATGAGAACGTCTGCATTG	0.642000													6	46					0	0	0.029380	0	0
DLK1	8788	broad.mit.edu	37	14	101201212	101201212	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:101201212G>A	ENST00000341267.4	+	5	1373	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	DLK1_ENST00000331224.6_Silent_p.E304E	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	377					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCAGCAAGGAGGCCGGCGACG	0.547000													15	114					0	0	0.043863	0	0
CWC22	57703	broad.mit.edu	37	2	180818938	180818938	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:180818938T>C	ENST00000410053.3	-	16	1982	c.1683A>G	c.(1681-1683)ccA>ccG	p.P561P	CWC22_ENST00000295749.6_Silent_p.P561P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	561	MI.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTACACTCCATGGAAGTGAAT	0.343000													14	41					0	0	0.160694	0	0
RYR2	6262	broad.mit.edu	37	1	237777705	237777705	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:237777705A>T	ENST00000366574.2	+	37	5594	c.5277A>T	c.(5275-5277)ccA>ccT	p.P1759P	RYR2_ENST00000360064.6_Silent_p.P1757P|RYR2_ENST00000542537.1_Silent_p.P1743P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1759	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCTCAGGCCACGGATGCAGT	0.512000													13	29					0	0	0.146539	0	0
DGKI	9162	broad.mit.edu	37	7	137293787	137293787	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:137293787A>T	ENST00000453654.1	-	10	731	c.192T>A	c.(190-192)ttT>ttA	p.F64L	DGKI_ENST00000288490.5_Missense_Mutation_p.F364L|DGKI_ENST00000446122.1_Missense_Mutation_p.F364L|DGKI_ENST00000424189.2_Missense_Mutation_p.F364L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	364					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTTTTATCACAAAAGGACGAC	0.433000													25	37					0	0	0.144211	0	0
CACNA1B	774	broad.mit.edu	37	9	140772602	140772602	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:140772602C>A	ENST00000371372.1	+	1	362	c.217C>A	c.(217-219)Cgc>Agc	p.R73S	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R73S|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R73S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R73S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R73S|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	73					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.R73C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CACCGTCAACCGCTCGCTCTT	0.667000													8	25					1.58986e-06	1.81798e-06	0.069234	1	0
ZNF646	9726	broad.mit.edu	37	16	31090321	31090321	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:31090321G>C	ENST00000394979.2	+	1	3099	c.2676G>C	c.(2674-2676)ggG>ggC	p.G892G	ZNF646_ENST00000300850.5_Silent_p.G892G			O15015	ZN646_HUMAN	zinc finger protein 646	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCTTCCCTGGGCGGGCTGGCT	0.652000													19	53					0	0	0.062417	0	0
COL6A3	1293	broad.mit.edu	37	2	238270446	238270446	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:238270446C>A	ENST00000295550.4	-	15	6544	c.6092G>T	c.(6091-6093)gGg>gTg	p.G2031V	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1825V|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1424V|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1825V|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1831V|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1830V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2031	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		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)		GCAGGGAACCCCACAGCAAGC	0.537000													31	55					6.97489e-18	1.00162e-17	0.074837	1	0
CFAP54	144535	broad.mit.edu	37	12	97158910	97158910	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:97158910T>G	ENST00000524981.3	+	27	3548	c.3548T>G	c.(3547-3549)aTg>aGg	p.M1183R				Q6ZTY8	CL063_HUMAN		1157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATACTAGAATGCATAAAGTT	0.323000													66	68					0	0	0.139131	0	0
SERPINE2	5270	broad.mit.edu	37	2	224866523	224866523	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:224866523G>T	ENST00000409840.3	-	3	755	c.95C>A	c.(94-96)tCc>tAc	p.S32Y	SERPINE2_ENST00000258405.4_Missense_Mutation_p.S32Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.S44Y|SERPINE2_ENST00000409304.1_Missense_Mutation_p.S32Y			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	32					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCCCGTGTTGGAGCCTAGTTC	0.547000													23	133					3.08376e-08	3.67937e-08	0.083992	1	0
CPEB1	64506	broad.mit.edu	37	15	83226530	83226530	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:83226530C>A	ENST00000563800.1	-	4	2392	c.667G>T	c.(667-669)Gat>Tat	p.D223Y	CPEB1_ENST00000564522.1_Missense_Mutation_p.D121Y|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.D121Y|CPEB1_ENST00000261723.6_Missense_Mutation_p.D199Y|CPEB1_ENST00000423133.2_Missense_Mutation_p.D121Y|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.D121Y|CPEB1_ENST00000568128.1_Missense_Mutation_p.D196Y|CPEB1_ENST00000562019.1_Missense_Mutation_p.D196Y|CPEB1_ENST00000568757.1_Missense_Mutation_p.D121Y			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	196					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGAGATGATCTGATCCAGAG	0.522000													22	94					8.24728e-16	1.14802e-15	0.099896	1	0
LRFN1	57622	broad.mit.edu	37	19	39798904	39798904	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:39798904T>C	ENST00000248668.4	-	2	1684	c.1685A>G	c.(1684-1686)tAt>tGt	p.Y562C		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	562						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCGTCGCCATACACCTTATA	0.657000													4	34					0	0	0.021553	0	0
ARL11	115761	broad.mit.edu	37	13	50204835	50204835	+	Silent	SNP	C	C	A	rs145617860		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:50204835C>A	ENST00000282026.1	+	2	587	c.252C>A	c.(250-252)ctC>ctA	p.L84L	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	84					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CAGATATCCTCGTGTACGTGC	0.607000													30	54					1.61788e-16	2.27944e-16	0.163468	1	0
SYT13	57586	broad.mit.edu	37	11	45274040	45274040	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:45274040G>C	ENST00000020926.3	-	4	889	c.778C>G	c.(778-780)Ctg>Gtg	p.L260V		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	260						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCAGGCCCAGGCGGAGCTCC	0.657000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	60					0	0	0.049695	0	0
LAMA1	284217	broad.mit.edu	37	18	7011460	7011460	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:7011460G>T	ENST00000389658.3	-	25	3619	c.3526C>A	c.(3526-3528)Cag>Aag	p.Q1176K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1176	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGAGGCTGATCGGAGCCC	0.532000													8	19					0.000442599	0.000475874	0.058154	1	0
ANP32A	8125	broad.mit.edu	37	15	69072434	69072434	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:69072434C>G	ENST00000465139.2	-	7	879	c.736G>C	c.(736-738)Gaa>Caa	p.E246Q	ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	246	Asp/Glu-rich (highly acidic).|Interaction with E4F1 (By similarity).				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						TCATCATCTTCTCCCTCATCT	0.418000													7	60					0	0	0.058154	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505639	220505639	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:220505639G>T	ENST00000358055.3	+	22	4088	c.3576G>T	c.(3574-3576)agG>agT	p.R1192S	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R1192S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R1192S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R1219S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R1219S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1192	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCTCTGAGGCATTGCCTTC	0.637000													17	60					1.67942e-08	2.02227e-08	0.175082	1	0
MRPL1	65008	broad.mit.edu	37	4	78830457	78830457	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:78830457A>G	ENST00000315567.8	+	7	1037	c.708A>G	c.(706-708)ttA>ttG	p.L236L	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	236							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TGCTTGAATTATTTAAAAATG	0.303000													40	98					0	0	0.139131	0	0
DROSHA	29102	broad.mit.edu	37	5	31495439	31495439	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:31495439C>A	ENST00000511367.2	-	11	1953	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	DROSHA_ENST00000442743.1_Missense_Mutation_p.R533I|DROSHA_ENST00000344624.3_Missense_Mutation_p.R570I|DROSHA_ENST00000513349.1_Missense_Mutation_p.R533I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	570	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTGGAAAAGTCTGCCAGCATT	0.373000													26	13					7.61165e-28	1.19677e-27	0.064281	1	0
TBX21	30009	broad.mit.edu	37	17	45822276	45822276	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:45822276T>C	ENST00000177694.1	+	6	1363	c.1152T>C	c.(1150-1152)gcT>gcC	p.A384A		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	384					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCCCAGGCTTACTGGCTGG	0.617000													16	104					0	0	0.175082	0	0
SCML4	256380	broad.mit.edu	37	6	108066223	108066223	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:108066223G>T	ENST00000369022.2	-	4	647	c.438C>A	c.(436-438)caC>caA	p.H146Q	SCML4_ENST00000369021.3_Missense_Mutation_p.H175Q|SCML4_ENST00000369020.3_Missense_Mutation_p.H204Q			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGAAGGGCTGGTGGCTGAAGA	0.612000													9	53					0.000673444	0.000717424	0.069234	1	0
TSR1	55720	broad.mit.edu	37	17	2239706	2239706	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:2239706G>A	ENST00000301364.4	-	1	1095	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	6					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGCGGGCCGGGGCGGTGGGCC	0.667000													16	203					0	0	0.160694	0	0
ADCY10	55811	broad.mit.edu	37	1	167865910	167865910	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:167865910G>T	ENST00000367848.1	-	7	883	c.386C>A	c.(385-387)cCc>cAc	p.P129H	ADCY10_ENST00000545172.1_Missense_Mutation_p.P68H|ADCY10_ENST00000367851.4_Missense_Mutation_p.P221H			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	221	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAATTGGGGGGTGGTTTTAA	0.328000													103	95					7.17885e-55	1.21078e-54	0.139131	1	0
GCNT2	2651	broad.mit.edu	37	6	10529606	10529606	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:10529606C>T	ENST00000379597.3	+	1	1018	c.462C>T	c.(460-462)tcC>tcT	p.S154S	GCNT2_ENST00000495262.1_Silent_p.S154S|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	154						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTCTGGCTTCCAAGAAGGAGT	0.512000													5	58					0	0	0.029380	0	0
SCN10A	6336	broad.mit.edu	37	3	38835286	38835286	+	Silent	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:38835286T>A	ENST00000449082.2	-	1	215	c.216A>T	c.(214-216)gcA>gcT	p.A72A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	72					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGATCAGTTCTGCTGGGAGCT	0.552000													65	68					0	0	0.139131	0	0
A2M	2	broad.mit.edu	37	12	9224999	9224999	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:9224999A>C	ENST00000318602.7	-	31	4366	c.4059T>G	c.(4057-4059)gaT>gaG	p.D1353E		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1353					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTTTGGGTTCATCACAAGTTT	0.428000													4	35					0	0	0.021553	0	0
SYN3	8224	broad.mit.edu	37	22	33402572	33402572	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:33402572G>C	ENST00000358763.2	-	2	318	c.76C>G	c.(76-78)Caa>Gaa	p.Q26E	SYN3_ENST00000332840.5_Missense_Mutation_p.Q26E	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	26	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGGGCGTTGCAGGTCCGTC	0.602000													50	84					0	0	0.139131	0	0
PKHD1	5314	broad.mit.edu	37	6	51889474	51889474	+	Missense_Mutation	SNP	C	C	A	rs141103838	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:51889474C>A	ENST00000371117.3	-	32	5409	c.5134G>T	c.(5134-5136)Ggg>Tgg	p.G1712W	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1712W	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1712	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGTACTCCCCGGCCGGAAGG	0.522000													20	47					3.62473e-10	4.52117e-10	0.062417	1	0
EFCC1	79825	broad.mit.edu	37	3	128758633	128758633	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:128758633C>A	ENST00000436022.2	+	8	1739	c.428C>A	c.(427-429)cCc>cAc	p.P143H	EFCC1_ENST00000480450.1_Missense_Mutation_p.P580H	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		CGGAGACAGCCCTCGGCACCA	0.667000													71	33					1.15098e-32	1.84015e-32	0.139131	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156914953	156914953	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156914953C>A	ENST00000368194.3	-	30	3888	c.2849G>T	c.(2848-2850)cGg>cTg	p.R950L	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R910L|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R326L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	910					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCACTGGTCCCGGGCCCGGCA	0.562000													43	77					1.17673e-23	1.80662e-23	0.139131	1	0
TRANK1	9881	broad.mit.edu	37	3	36876324	36876324	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:36876324C>A	ENST00000429976.2	-	20	5707	c.5460G>T	c.(5458-5460)caG>caT	p.Q1820H	TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1270H|TRANK1_ENST00000301807.6_Missense_Mutation_p.Q1270H			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1820					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GATCAAATTCCTGAATCTGCT	0.398000													10	15					0.000978159	0.00103992	0.080935	1	0
UGT1A3	54659	broad.mit.edu	37	2	234637790	234637790	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:234637790G>T	ENST00000482026.1	+	1	37	c.18G>T	c.(16-18)caG>caT	p.Q6H	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAGGACTCCAGGTTCCCCTGC	0.572000											OREG0003835	type=REGULATORY REGION|Gene=UGT1A3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	82					0.000151284	0.000164865	0.105934	1	0
DCAF11	80344	broad.mit.edu	37	14	24588398	24588398	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:24588398C>G	ENST00000446197.3	+	9	1551	c.824C>G	c.(823-825)tCa>tGa	p.S275*	DCAF11_ENST00000559115.1_Nonsense_Mutation_p.S275*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.S175*|DCAF11_ENST00000396941.4_Nonsense_Mutation_p.S249*	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	275						CUL4 RING ubiquitin ligase complex	protein binding										GCTGTCTCCTCAGATGGACGA	0.478000													24	116					0	0	0.125774	0	0
OR8I2	120586	broad.mit.edu	37	11	55861147	55861147	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55861147C>A	ENST00000302124.2	+	1	395	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	OR8I2_ENST00000560768.1_Missense_Mutation_p.R122S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GGCCTACAATCGCTACATAGC	0.433000													63	34					5.80444e-35	9.39509e-35	0.139131	1	0
KRT25	147183	broad.mit.edu	37	17	38907322	38907322	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:38907322G>T	ENST00000312150.4	-	5	901	c.841C>A	c.(841-843)Ctg>Atg	p.L281M		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	281	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGCTGCTGCAGGGAGGCGCTC	0.483000													11	62					1.3612e-06	1.56336e-06	0.132662	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75927069	75927069	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:75927069C>T	ENST00000262207.4	+	6	1117	c.649C>T	c.(649-651)Cct>Tct	p.P217S	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.P31S|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.P29S	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	217						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GGGCCATGCCCCTTACAAACA	0.423000													6	19					0	0	0.021553	0	0
RCL1	10171	broad.mit.edu	37	9	4844632	4844632	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:4844632A>C	ENST00000381750.4	+	7	1041	c.818A>C	c.(817-819)gAg>gCg	p.E273A	RCL1_ENST00000381730.1_Missense_Mutation_p.E87A|RCL1_ENST00000448872.2_Missense_Mutation_p.E87A|RCL1_ENST00000381728.1_Missense_Mutation_p.E87A	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	273					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GTACTTCCAGAGGACCTTGGC	0.572000													49	142					0	0	0.139131	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291758	141291758	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:141291758C>A	ENST00000247452.3	-	3	363	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	6			G -> C (in a breast cancer sample; somatic mutation).			cytoplasm|nucleus		p.G6C(3)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGAACGCCTGGAACGGGA	0.527000										HNSCC(46;0.14)			5	82					0.000157383	0.000170976	0.038147	1	0
GPR45	11250	broad.mit.edu	37	2	105858897	105858897	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:105858897C>G	ENST00000258456.1	+	1	698	c.582C>G	c.(580-582)gcC>gcG	p.A194A		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	194						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CTGACCGCGCCTACGTGGTCA	0.692000													19	15					0	0	0.049695	0	0
CD6	923	broad.mit.edu	37	11	60777209	60777209	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:60777209A>G	ENST00000313421.7	+	5	1133	c.947A>G	c.(946-948)aAg>aGg	p.K316R	CD6_ENST00000452451.2_Missense_Mutation_p.K316R|CD6_ENST00000545105.1_Intron|CD6_ENST00000344028.5_Missense_Mutation_p.K316R|CD6_ENST00000352009.5_Missense_Mutation_p.K316R|CD6_ENST00000346437.4_Missense_Mutation_p.K316R	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	316	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GAGAGGCCCAAGGGGCTGCCC	0.602000													13	57					0	0	0.132662	0	0
ZNF208	7757	broad.mit.edu	37	19	22156743	22156743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:22156743C>A	ENST00000397126.4	-	4	1241	c.1093G>T	c.(1093-1095)Gga>Tga	p.G365*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTTTCTCTCCAGTATGAATT	0.388000													13	63					1.49906e-05	1.66846e-05	0.119110	1	0
OR6B1	135946	broad.mit.edu	37	7	143701627	143701627	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:143701627G>T	ENST00000408922.2	+	1	606	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTTCTTCTGTGACATCTCTCC	0.478000													14	42					6.31663e-08	7.45148e-08	0.132662	1	0
TRIP12	9320	broad.mit.edu	37	2	230633405	230633405	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:230633405G>A	ENST00000283943.5	-	40	5887	c.5709C>T	c.(5707-5709)ctC>ctT	p.L1903L	TRIP12_ENST00000389044.4_Silent_p.L1951L|TRIP12_ENST00000389045.3_Silent_p.L1633L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1903	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAAAACTACTGAGAATCTCAA	0.373000													6	32					0	0	0.029380	0	0
PSCA	8000	broad.mit.edu	37	8	143763484	143763484	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:143763484G>T	ENST00000301258.4	+	3	362	c.279G>T	c.(277-279)ccG>ccT	p.P93P		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	93										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCTGCAGCCGGCTGCTGCCA	0.662000													14	27					2.4624e-09	3.02085e-09	0.049695	1	0
LCMT1	51451	broad.mit.edu	37	16	25175934	25175934	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:25175934G>C	ENST00000399069.3	+	7	740	c.585G>C	c.(583-585)ctG>ctC	p.L195L	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.L140L	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	195							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAACACTCCTGATAGCTGAAT	0.428000													8	30					0	0	0.058154	0	0
PAX6	5080	broad.mit.edu	37	11	31824340	31824340	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:31824340C>A	ENST00000419022.1	-	5	521	c.53G>T	c.(52-54)gGg>gTg	p.G18V	PAX6_ENST00000379123.5_Missense_Mutation_p.G18V|PAX6_ENST00000379132.3_Missense_Mutation_p.G18V|PAX6_ENST00000379115.4_Missense_Mutation_p.G18V|PAX6_ENST00000379107.2_Missense_Mutation_p.G18V|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000379129.2_Missense_Mutation_p.G18V|PAX6_ENST00000379111.2_Missense_Mutation_p.G18V|PAX6_ENST00000241001.8_Missense_Mutation_p.G18V	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	18	Paired.		G -> W (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CAGTGGCCGCCCGTTGACAAA	0.587000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				16	22					2.89027e-11	3.72523e-11	0.069288	1	0
ITGBL1	9358	broad.mit.edu	37	13	102250501	102250501	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:102250501A>T	ENST00000376180.3	+	7	1087		c.e7-1		ITGBL1_ENST00000376162.3_Splice_Site|ITGBL1_ENST00000545560.2_Splice_Site	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)						cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCACTGTGAAGGTCATGGAC	0.423000													36	74					0	0	0.139131	0	0
DRD2	1813	broad.mit.edu	37	11	113283469	113283469	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:113283469T>G	ENST00000362072.3	-	7	1291	c.947A>C	c.(946-948)cAc>cCc	p.H316P	DRD2_ENST00000544518.1_Missense_Mutation_p.H315P|DRD2_ENST00000538967.1_Missense_Mutation_p.H318P|DRD2_ENST00000355319.2_Missense_Mutation_p.H318P|DRD2_ENST00000346454.3_Missense_Mutation_p.H287P|DRD2_ENST00000542968.1_Missense_Mutation_p.H316P	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	316	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGGAGTGCTGTGGAGACCATG	0.617000													23	55					0	0	0.183431	0	0
PPP3CB	5532	broad.mit.edu	37	10	75204447	75204447	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:75204447C>G	ENST00000342558.3	-	12	1508	c.1402G>C	c.(1402-1404)Gac>Cac	p.D468H	PPP3CB_ENST00000394829.2_Intron|PPP3CB_ENST00000545874.1_Missense_Mutation_p.D383H|PPP3CB_ENST00000544628.1_Intron|PPP3CB_ENST00000394828.2_Intron|PPP3CB_ENST00000360663.5_Intron|PPP3CB_ENST00000394822.2_Missense_Mutation_p.D486H			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	247										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GTGCCCCAGTCCATCTGAGGC	0.498000													5	19					0	0	0.021553	0	0
CKAP2	26586	broad.mit.edu	37	13	53029722	53029722	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:53029722C>A	ENST00000378037.5	+	1	121	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	CKAP2_ENST00000258607.5_Missense_Mutation_p.Q11K|CKAP2_ENST00000378034.3_Missense_Mutation_p.Q11K	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	11					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CCAGGACCTGCAGCTGCCCCC	0.716000													9	41					2.80697e-09	3.41946e-09	0.080935	1	0
HAX1	10456	broad.mit.edu	37	1	154247910	154247910	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:154247910G>T	ENST00000328703.7	+	6	918	c.705G>T	c.(703-705)cgG>cgT	p.R235R	HAX1_ENST00000457918.2_Silent_p.R187R|HAX1_ENST00000483970.2_Silent_p.R243R|HAX1_ENST00000532105.1_Silent_p.R107R	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	235	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGAGGGCCGGACAGAGACTA	0.493000									Kostmann syndrome				43	135					3.7469e-33	5.99964e-33	0.139131	1	0
PSG4	5672	broad.mit.edu	37	19	43698701	43698701	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:43698701C>T	ENST00000405312.3	-	5	1271	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	PSG4_ENST00000244295.9_Missense_Mutation_p.R252H|PSG4_ENST00000433626.2_Missense_Mutation_p.R252H	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	345	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.R345H(1)|p.R252H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTCTCCTGAACGGTAATAGGT	0.478000													32	223					0	0	0.163468	0	0
UNC50	25972	broad.mit.edu	37	2	99234748	99234748	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:99234748A>G	ENST00000409975.1	+	5	1942	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	UNC50_ENST00000357765.2_Missense_Mutation_p.Y254C|UNC50_ENST00000409347.1_Missense_Mutation_p.Y271C			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	254					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TGTTCTTTCTATAAGTACAGA	0.368000													8	43					0	0	0.080935	0	0
TRPM6	140803	broad.mit.edu	37	9	77354675	77354675	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:77354675G>C	ENST00000451710.3	-	33	5700	c.5463C>G	c.(5461-5463)atC>atG	p.I1821M	TRPM6_ENST00000360774.1_Missense_Mutation_p.I1817M|TRPM6_ENST00000361255.3_Missense_Mutation_p.I1812M|TRPM6_ENST00000376864.4_Missense_Mutation_p.I1821M|TRPM6_ENST00000449912.2_Missense_Mutation_p.I1812M|TRPM6_ENST00000376871.3_Missense_Mutation_p.I654M|TRPM6_ENST00000376872.3_Missense_Mutation_p.I772M			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1817	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTCCTGGAAGATTTTATGCC	0.483000													16	111					0	0	0.175082	0	0
SLC7A3	84889	broad.mit.edu	37	X	70147815	70147815	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:70147815C>G	ENST00000374299.3	-	6	1020	c.876G>C	c.(874-876)ctG>ctC	p.L292L	SLC7A3_ENST00000298085.4_Silent_p.L292L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	292					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAGACAGACAGTGAGATCA	0.517000													10	47					0	0	0.119110	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855544	79855544	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:79855544C>G	ENST00000338682.3	-	5	967	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	99						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GAAACAACTTCAGGGCCAGCT	0.438000													18	96					0	0	0.055883	0	0
KDM3B	51780	broad.mit.edu	37	5	137727918	137727918	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:137727918C>A	ENST00000314358.5	+	8	2797	c.2597C>A	c.(2596-2598)cCc>cAc	p.P866H	KDM3B_ENST00000394866.1_Missense_Mutation_p.P522H|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	866					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAGCAGGCCCCCAAGGGCCGG	0.607000													17	32					3.62473e-10	4.52117e-10	0.062417	1	0
TMEM59L	25789	broad.mit.edu	37	19	18727850	18727850	+	Missense_Mutation	SNP	G	G	A	rs61731609	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18727850G>A	ENST00000600490.1	+	6	787	c.602G>A	c.(601-603)cGt>cAt	p.R201H	TMEM59L_ENST00000262817.3_Missense_Mutation_p.R201H			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	201						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CAGGGGGGCCGTCTGCAGCGC	0.642000													20	171					0	0	0.062417	0	0
ZNF154	7710	broad.mit.edu	37	19	58213694	58213694	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:58213694C>T	ENST00000512439.2	-	3	819	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R208Q			Q13106	ZN154_HUMAN	zinc finger protein 154	208						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R208Q(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAACTCTCCGGTGCTGAAT	0.438000													18	102					0	0	0.175082	0	0
NME8	51314	broad.mit.edu	37	7	37890266	37890266	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:37890266A>G	ENST00000199447.4	+	5	499	c.127A>G	c.(127-129)Aga>Gga	p.R43G	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R43G	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	43	Thioredoxin.		R -> K (in dbSNP:rs2722372).		cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TGGACCTTGCAGAGCAATGCA	0.353000													13	74					0	0	0.175082	0	0
ESX1	80712	broad.mit.edu	37	X	103494976	103494976	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:103494976C>G	ENST00000372588.4	-	4	1237	c.1154G>C	c.(1153-1155)gGc>gCc	p.G385A		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	385					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AGGAGCCAGGCCAGTGTGAGG	0.582000													11	17					0	0	0.119110	0	0
ZNF574	64763	broad.mit.edu	37	19	42583941	42583941	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:42583941C>T	ENST00000600245.1	+	2	1838	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	ZNF574_ENST00000222339.7_Missense_Mutation_p.P485S|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.P395S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCATTCATGTCCATGTGGGAA	0.592000													22	75					0	0	0.083992	0	0
MERTK	10461	broad.mit.edu	37	2	112751865	112751865	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:112751865G>T	ENST00000295408.4	+	9	1591	c.1334G>T	c.(1333-1335)cGa>cTa	p.R445L	MERTK_ENST00000421804.2_Missense_Mutation_p.R445L|MERTK_ENST00000409780.1_Missense_Mutation_p.R269L			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	445	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R445Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AATGGCAGCCGAGCTCGGATC	0.527000													61	128					7.75977e-34	1.24826e-33	0.139131	1	0
TRAT1	50852	broad.mit.edu	37	3	108572674	108572674	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:108572674C>G	ENST00000295756.6	+	6	741	c.511C>G	c.(511-513)Ccc>Gcc	p.P171A	TRAT1_ENST00000426646.1_Missense_Mutation_p.P134A	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	171					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.P171S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TCATGATGATCCCATCAGACT	0.433000													44	122					0	0	0.139131	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178588	140178588	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:140178588T>A	ENST00000458420.3	+	7	1389	c.1199T>A	c.(1198-1200)aTc>aAc	p.I400N	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	400					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAGGAAACCATCCTCTGCAAC	0.577000										HNSCC(16;0.037)			12	100					0	0	0.080935	0	0
TINAG	27283	broad.mit.edu	37	6	54219322	54219322	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:54219322G>T	ENST00000259782.4	+	9	1234	c.1138G>T	c.(1138-1140)Gtc>Ttc	p.V380F		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	380					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CATAATGCAAGTCCGTGAAGA	0.343000													8	42					6.31663e-08	7.45148e-08	0.132662	1	0
FAT4	79633	broad.mit.edu	37	4	126241663	126241663	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:126241663G>T	ENST00000394329.3	+	1	4110	c.4097G>T	c.(4096-4098)aGc>aTc	p.S1366I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1366	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTAGCATTAGCCCAAACACT	0.383000													62	107					5.44642e-36	8.87061e-36	0.139131	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47569250	47569250	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:47569250G>T	ENST00000371917.4	+	5	432	c.432G>T	c.(430-432)ctG>ctT	p.L144L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	144					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGGCTCTTCTGACTGCAGTGA	0.453000													9	74					2.80697e-09	3.41946e-09	0.080935	1	0
USP7	7874	broad.mit.edu	37	16	8993541	8993541	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:8993541C>T	ENST00000344836.4	-	22	2581	c.2383G>A	c.(2383-2385)Gat>Aat	p.D795N	USP7_ENST00000535863.1_Missense_Mutation_p.D696N|USP7_ENST00000381886.4_Missense_Mutation_p.D779N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	795	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AAAATGACATCAACGCGGTGG	0.388000													14	98					0	0	0.105934	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802271	185802271	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:185802271A>C	ENST00000302277.6	+	4	2742	c.2148A>C	c.(2146-2148)ttA>ttC	p.L716F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	716						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACATAATTTAACATATTCTA	0.313000													4	32					0	0	0.150653	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161168182	161168182	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:161168182G>T	ENST00000367996.4	-	1	664	c.236C>A	c.(235-237)gCc>gAc	p.A79D	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.A79D	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	79					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAACAGCCTGGCAGGGGCGCC	0.677000													10	8					6.40141e-05	7.00532e-05	0.080935	1	0
SLC13A4	26266	broad.mit.edu	37	7	135376299	135376299	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:135376299C>G	ENST00000354042.4	-	12	2004	c.1315G>C	c.(1315-1317)Gat>Cat	p.D439H	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	439						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CTCTCACCATCATTCTTTTTC	0.468000													7	27					0	0	0.029380	0	0
ANGPT1	284	broad.mit.edu	37	8	108306254	108306254	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:108306254A>T	ENST00000520734.1	-	5	633	c.348T>A	c.(346-348)aaT>aaA	p.N116K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.N115K			Q15389	ANGP1_HUMAN	angiopoietin 1	316					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGACATCCATATTGCAAAACA	0.348000													29	63					0	0	0.069456	0	0
ANO6	196527	broad.mit.edu	37	12	45803234	45803234	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:45803234G>T	ENST00000320560.8	+	16	2177	c.1975G>T	c.(1975-1977)Ggc>Tgc	p.G659C	ANO6_ENST00000425752.2_Missense_Mutation_p.G659C|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.G680C|ANO6_ENST00000435642.1_Missense_Mutation_p.G659C|ANO6_ENST00000441606.2_Missense_Mutation_p.G641C	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	659					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCAGCCTATGGGCAAACTGGG	0.383000													101	36					2.42198e-52	4.07174e-52	0.139131	1	0
MUC17	140453	broad.mit.edu	37	7	100693917	100693917	+	Splice_Site	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:100693917G>T	ENST00000306151.4	+	7	12938		c.e7+1			NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated							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)					ATTTGCTCAGGTGAACTCTGG	0.463000													11	10					0.00010058	0.000109838	0.093190	1	0
TMCC2	9911	broad.mit.edu	37	1	205197741	205197741	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:205197741G>A	ENST00000358024.3	+	1	438	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	17						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGGCGAGGAGGATGGAGCTGG	0.647000													24	48					0	0	0.153744	0	0
GPR115	221393	broad.mit.edu	37	6	47682876	47682876	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:47682876C>A	ENST00000283303.2	+	6	2153	c.1895C>A	c.(1894-1896)aCg>aAg	p.T632K	GPR115_ENST00000371220.1_Missense_Mutation_p.T689K|GPR115_ENST00000327753.3_Missense_Mutation_p.T632K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	632					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACTTCCTTGACGTTCCATATA	0.433000													35	95					6.2361e-21	9.32735e-21	0.098360	1	0
CCIN	881	broad.mit.edu	37	9	36170694	36170694	+	Missense_Mutation	SNP	C	C	G	rs142836285	by1000genomes	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:36170694C>G	ENST00000335119.2	+	1	1306	c.1195C>G	c.(1195-1197)Cgg>Ggg	p.R399G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	399					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.R399W(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CTATGATGAGCGGAAGGAAGT	0.557000													74	31					0	0	0.139131	0	0
CETN1	1068	broad.mit.edu	37	18	580575	580575	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:580575C>A	ENST00000327228.3	+	1	209	c.167C>A	c.(166-168)gCc>gAc	p.A56D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	56	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CTGAAGGTGGCCATGAGAGCG	0.552000													54	50					1.85204e-48	3.08871e-48	0.139131	1	0
GPR112	139378	broad.mit.edu	37	X	135428925	135428925	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:135428925T>C	ENST00000394143.1	+	6	3351	c.3060T>C	c.(3058-3060)aaT>aaC	p.N1020N	GPR112_ENST00000287534.4_Silent_p.N957N|GPR112_ENST00000370652.1_Silent_p.N1020N|GPR112_ENST00000394141.1_Silent_p.N815N|GPR112_ENST00000412101.1_Silent_p.N815N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1020					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGCCAGTTAATGGCAGTTCTG	0.493000													10	152					0	0	0.105934	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722499	64722499	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:64722499A>T	ENST00000338957.4	+	5	1988	c.1921A>T	c.(1921-1923)Agc>Tgc	p.S641C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S630C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	630							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGAGTGCAGAGCTATGGCCC	0.537000													4	14					0	0	0.014758	0	0
LARP4B	23185	broad.mit.edu	37	10	860887	860887	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:860887C>A	ENST00000316157.3	-	15	1859	c.1820_splice	c.e15+1	p.D607_splice	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	607							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATACTCACTCGGGTAAATGA	0.517000													17	42					7.87624e-14	1.06513e-13	0.076483	1	0
UNC45B	146862	broad.mit.edu	37	17	33504092	33504092	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:33504092C>A	ENST00000268876.5	+	16	2185	c.2088C>A	c.(2086-2088)caC>caA	p.H696Q	UNC45B_ENST00000591048.1_Missense_Mutation_p.H615Q|UNC45B_ENST00000433649.1_Missense_Mutation_p.H694Q|UNC45B_ENST00000394570.2_Missense_Mutation_p.H694Q|UNC45B_ENST00000378449.1_Missense_Mutation_p.H615Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	696					cell differentiation|muscle organ development	cytosol	binding	p.H696H(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGCAGCCCACGCTCTAGCAA	0.567000													58	61					1.35621e-51	2.27634e-51	0.139131	1	0
TET1	80312	broad.mit.edu	37	10	70405772	70405772	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:70405772G>C	ENST00000373644.4	+	4	3495	c.3286G>C	c.(3286-3288)Gag>Cag	p.E1096Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1096					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TATAAAACCAGAGGACAAAAA	0.378000													6	49					0	0	0.029380	0	0
TEX14	56155	broad.mit.edu	37	17	56679300	56679300	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:56679300C>T	ENST00000389934.3	-	13	1662	c.1545G>A	c.(1543-1545)caG>caA	p.Q515Q	TEX14_ENST00000240361.8_Silent_p.Q521Q|TEX14_ENST00000349033.5_Silent_p.Q515Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	521	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTGAGTTCTCTGGGCTCCAG	0.468000													7	59					0	0	0.058154	0	0
STK39	27347	broad.mit.edu	37	2	168921829	168921829	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:168921829C>A	ENST00000355999.4	-	13	2010	c.1305_splice	c.e13+1	p.Q435_splice	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	435					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AGAAACATACCTGAGAGTCGT	0.453000													91	77					4.00015e-43	6.61831e-43	0.139131	1	0
ALPK2	115701	broad.mit.edu	37	18	56203946	56203946	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:56203946G>A	ENST00000361673.3	-	5	3686	c.3473C>T	c.(3472-3474)cCt>cTt	p.P1158L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1158							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGATGTCGTAGGCAAACTTTG	0.552000													18	71					0	0	0.069288	0	0
KRT36	8689	broad.mit.edu	37	17	39645719	39645719	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:39645719A>G	ENST00000393986.2	-	2	460	c.248T>C	c.(247-249)aTc>aCc	p.I83T	KRT36_ENST00000328119.6_Missense_Mutation_p.I133T			O76013	KRT36_HUMAN	keratin 36	133	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GATGTATGGGATCTGAAACTC	0.582000													101	102					0	0	0.139131	0	0
PTPRN	5798	broad.mit.edu	37	2	220162135	220162135	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:220162135C>A	ENST00000295718.2	-	14	2148	c.1908G>T	c.(1906-1908)atG>atT	p.M636I	PTPRN_ENST00000423636.2_Missense_Mutation_p.M546I|PTPRN_ENST00000409251.3_Missense_Mutation_p.M607I	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	636					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ACTTCGTGGCCATGTGCTGGC	0.612000													51	41					4.33383e-22	6.55728e-22	0.139131	1	0
ITPR2	3709	broad.mit.edu	37	12	26868721	26868721	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:26868721C>G	ENST00000381340.3	-	7	1088	c.672G>C	c.(670-672)atG>atC	p.M224I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	224					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACTATATTTCATGAATAAAG	0.358000													5	114					0	0	0.014758	0	0
CD22	933	broad.mit.edu	37	19	35823583	35823583	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:35823583C>T	ENST00000085219.5	+	3	234	c.168C>T	c.(166-168)ttC>ttT	p.F56F	CD22_ENST00000544992.2_Silent_p.F56F|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000594250.1_Silent_p.F56F|CD22_ENST00000536635.2_Silent_p.F56F|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000341773.6_Silent_p.F56F|CD22_ENST00000270311.6_5'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	56	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TGGAAAGCTTCATCCTGTTCC	0.512000													16	125					0	0	0.076483	0	0
OR5L2	26338	broad.mit.edu	37	11	55595525	55595525	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55595525C>G	ENST00000378397.1	+	1	831	c.831C>G	c.(829-831)ttC>ttG	p.F277L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCACCGTGTTCTACACAGTTG	0.468000										HNSCC(27;0.073)			7	49					0	0	0.029380	0	0
SCRIB	23513	broad.mit.edu	37	8	144895510	144895510	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:144895510C>G	ENST00000356994.2	-	6	544	c.538G>C	c.(538-540)Gat>Cat	p.D180H	SCRIB_ENST00000320476.3_Missense_Mutation_p.D180H|SCRIB_ENST00000377533.3_Missense_Mutation_p.D99H	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	180	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCCAGATCCAGCTGTTCC	0.652000													19	59					0	0	0.099896	0	0
DMP1	1758	broad.mit.edu	37	4	88580622	88580622	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:88580622G>C	ENST00000339673.6	+	5	274	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Intron|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	59					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGTTAGCTCAGAGGAACAGGT	0.348000													8	85					0	0	0.069234	0	0
ZDHHC11	79844	broad.mit.edu	37	5	850634	850634	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:850634G>A	ENST00000283441.8	-	1	467	c.84C>T	c.(82-84)atC>atT	p.I28I	ZDHHC11_ENST00000424784.2_Silent_p.I28I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	28						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TCACTCTGGAGATGCGGGGCG	0.587000													17	114					0	0	0.049695	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168682	50168682	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:50168682G>T	ENST00000284509.6	-	25	2961	c.2820C>A	c.(2818-2820)ctC>ctA	p.L940L	ATP8B4_ENST00000559829.1_Silent_p.L940L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	940					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTGGTTTGTAGAGCTGGGGAC	0.428000													28	76					1.22384e-17	1.74547e-17	0.173368	1	0
SYTL5	94122	broad.mit.edu	37	X	37961679	37961679	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:37961679C>A	ENST00000357972.5	+	10	1693	c.1147C>A	c.(1147-1149)Cta>Ata	p.L383I	SYTL5_ENST00000456733.2_Missense_Mutation_p.L383I|SYTL5_ENST00000297875.2_Missense_Mutation_p.L383I|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	383					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GGCAAGTGGCCTATCAACTGT	0.408000													5	64					2.7689e-08	3.31886e-08	0.029380	1	0
DNAJC14	85406	broad.mit.edu	37	12	56222305	56222305	+	Silent	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:56222305A>C	ENST00000357606.3	-	3	427	c.138T>G	c.(136-138)gcT>gcG	p.A46A	DNAJC14_ENST00000317287.5_Silent_p.A46A|DNAJC14_ENST00000317269.3_Silent_p.A46A			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	46					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TACCATTAGGAGCAGTCCCTG	0.602000													85	98					0	0	0.139131	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449703	61449703	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:61449703C>A	ENST00000398019.2	+	2	422	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	SERPINB7_ENST00000336429.2_Missense_Mutation_p.L33M|SERPINB7_ENST00000540675.1_Missense_Mutation_p.L33M|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L33M	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	33					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CTTTTCCTCTCTGAGCCTCTT	0.493000													29	46					9.45814e-24	1.45424e-23	0.074837	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52001316	52001316	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:52001316G>T	ENST00000291707.3	-	5	1416	c.1361C>A	c.(1360-1362)tCc>tAc	p.S454Y	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S336Y	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	454	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AATGTGCTGGGAGCCTAGAGG	0.592000													30	57					1.26612e-14	1.72788e-14	0.183431	1	0
CIC	23152	broad.mit.edu	37	19	42791820	42791820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:42791820G>T	ENST00000572681.2	+	6	3501	c.3433G>T	c.(3433-3435)Gag>Tag	p.E1145*	CIC_ENST00000160740.3_Nonsense_Mutation_p.E236*|CIC_ENST00000575354.2_Nonsense_Mutation_p.E236*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	236	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GATCCTGGGCGAGTGGTGGTA	0.607000			"""Mis, F, S"""		oligodendroglioma								52	40					7.41606e-26	1.15558e-25	0.139131	1	0
CHRM2	1129	broad.mit.edu	37	7	136700015	136700015	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:136700015C>A	ENST00000445907.2	+	3	931	c.403C>A	c.(403-405)Cgg>Agg	p.R135R	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Silent_p.R135R|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.R135R|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.R135R|CHRM2_ENST00000402486.3_Silent_p.R135R|CHRM2_ENST00000453373.1_Silent_p.R135R|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	135					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCCAGTCAAGCGGACCACAAA	0.498000													21	37					1.36565e-18	1.98294e-18	0.076483	1	0
CASZ1	54897	broad.mit.edu	37	1	10713921	10713921	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:10713921C>A	ENST00000377022.3	-	11	2510	c.2193G>T	c.(2191-2193)ctG>ctT	p.L731L	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.L731L	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCTTGCTGCTCAGGGCGGAGA	0.701000													33	58					5.20006e-24	8.00717e-24	0.124865	1	0
ASXL3	80816	broad.mit.edu	37	18	31314300	31314300	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:31314300C>A	ENST00000269197.5	+	10	1003	c.1003C>A	c.(1003-1005)Cgg>Agg	p.R335R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATGCAGTTGCGGATAAGGCA	0.303000													3	23					0.0215528	0.0220815	0.021553	1	0
RAD54L	8438	broad.mit.edu	37	1	46714216	46714216	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:46714216G>C	ENST00000371975.4	+	2	710	c.36G>C	c.(34-36)aaG>aaC	p.K12N	RAD54L_ENST00000442598.1_Missense_Mutation_p.K12N	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	12					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGCTGGCCAAGAGAAAACCTG	0.562000								Direct reversal of damage;Homologous recombination					7	36					0	0	0.038147	0	0
LRRN1	57633	broad.mit.edu	37	3	3886635	3886635	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:3886635C>A	ENST00000319331.3	+	2	1071	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	104						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGATTTCTCCCAAAACAACTT	0.438000													10	26					9.05144e-12	1.17827e-11	0.105934	1	0
BAI3	577	broad.mit.edu	37	6	69666619	69666619	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:69666619C>A	ENST00000370598.1	+	8	2264	c.1443C>A	c.(1441-1443)acC>acA	p.T481T		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	481	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAATAAGGACCTGTCAGGGTG	0.498000													49	87					2.79147e-13	3.72671e-13	0.139131	1	0
ERC1	23085	broad.mit.edu	37	12	1481101	1481101	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:1481101G>A	ENST00000397203.2	+	16	3289	c.2883G>A	c.(2881-2883)ctG>ctA	p.L961L	ERC1_ENST00000360905.4_Silent_p.L961L|ERC1_ENST00000543086.3_Silent_p.L933L|ERC1_ENST00000355446.5_Silent_p.L961L|ERC1_ENST00000589028.1_Silent_p.L961L|ERC1_ENST00000546231.2_Silent_p.L965L			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	961					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGGCTGCCCTGAAGCGGGAGA	0.502000													12	39					0	0	0.105934	0	0
NLRP1	22861	broad.mit.edu	37	17	5462625	5462625	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:5462625T>G	ENST00000345221.3	-	4	1945	c.1391A>C	c.(1390-1392)cAg>cCg	p.Q464P	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q464P|NLRP1_ENST00000354411.3_Missense_Mutation_p.Q464P|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q464P|NLRP1_ENST00000572272.1_Missense_Mutation_p.Q464P|NLRP1_ENST00000262467.5_Missense_Mutation_p.Q464P	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	464	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AATGAGGTTCTGCAGAGCTGT	0.537000													14	8					0	0	0.105934	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959301	183959301	+	RNA	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:183959301C>A	ENST00000502308.1	+	0	484					NR_003612.1																						AAGCAATTAACTCAGGTAGAA	0.403000													5	6					0.0215528	0.0220815	0.021553	1	0
KCNK6	9424	broad.mit.edu	37	19	38817411	38817411	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:38817411G>T	ENST00000263372.3	+	2	608	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	167						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	ACCCCCGGCGGGCGGCCTGCT	0.672000													19	68					2.94398e-08	3.51661e-08	0.043863	1	0
NDC80	10403	broad.mit.edu	37	18	2577750	2577750	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:2577750G>A	ENST00000261597.4	+	4	367	c.185G>A	c.(184-186)aGt>aAt	p.S62N		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	62	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TCCAGAACTAGTGGACATGGA	0.353000													21	118					0	0	0.091800	0	0
ZNF716	441234	broad.mit.edu	37	7	57529323	57529323	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:57529323G>T	ENST00000420713.1	+	4	1268	c.1156G>T	c.(1156-1158)Ggc>Tgc	p.G386C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGAAGAATGTGGCAAAGCCTT	0.418000													3	35					0.115264	0.117058	0.115264	1	0
RASL11B	65997	broad.mit.edu	37	4	53730701	53730701	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:53730701C>G	ENST00000248706.3	+	3	474	c.256C>G	c.(256-258)Caa>Gaa	p.Q86E	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	86	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TCTTCAGGTTCAAGACACTCC	0.428000													32	170					0	0	0.069456	0	0
KCNMA1	3778	broad.mit.edu	37	10	78674762	78674762	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:78674762G>T	ENST00000286627.5	-	23	3726	c.2774C>A	c.(2773-2775)cCa>cAa	p.P925Q	KCNMA1_ENST00000372443.1_Missense_Mutation_p.P925Q|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P986Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P987Q|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P983Q|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P983Q|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P966Q|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P925Q	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	983					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCCGTGCACTGGGCTGTTATC	0.478000													126	71					1.02165e-56	1.72869e-56	0.139131	1	0
MUC16	94025	broad.mit.edu	37	19	9056232	9056232	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:9056232A>T	ENST00000397910.4	-	3	31417	c.31214T>A	c.(31213-31215)gTt>gAt	p.V10405D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10407	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCAGCTCAACGCTCTCTGT	0.488000													28	62					0	0	0.173368	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456536	5456536	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:5456536G>A	ENST00000222033.4	+	1	1111	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	345						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAAGCCCCCCGGCGCTCCTGC	0.622000													18	103					0	0	0.076483	0	0
ACAD10	80724	broad.mit.edu	37	12	112130648	112130648	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:112130648G>C	ENST00000455480.2	+	2	312	c.135G>C	c.(133-135)gtG>gtC	p.V45V	ACAD10_ENST00000313698.4_Silent_p.V45V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.V45V|ACAD10_ENST00000392636.2_5'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	45							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ACAGAGCGGTGATTTTCGACA	0.567000													24	114					0	0	0.134883	0	0
WNT8B	7479	broad.mit.edu	37	10	102222936	102222936	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:102222936C>T	ENST00000343737.5	+	1	139	c.11C>T	c.(10-12)tCa>tTa	p.S4L		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	4					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		ATGTTTCTTTCAAAGCCTTCT	0.453000													11	54					0	0	0.105934	0	0
SLC12A2	6558	broad.mit.edu	37	5	127483319	127483319	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:127483319G>T	ENST00000262461.2	+	11	1968	c.1779G>T	c.(1777-1779)atG>atT	p.M593I	SLC12A2_ENST00000343225.4_Missense_Mutation_p.M593I	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	593					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTAAGGTAATGAGTATGGTGT	0.338000													10	67					0.00829132	0.00867348	0.069234	1	0
CPS1	1373	broad.mit.edu	37	2	211504764	211504764	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:211504764C>A	ENST00000233072.5	+	24	3136	c.2940C>A	c.(2938-2940)ggC>ggA	p.G980G	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Silent_p.G529G|CPS1_ENST00000430249.2_Silent_p.G986G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	980					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGTGCTAGGCTGTGGTCCAT	0.303000													26	70					4.65686e-17	6.5967e-17	0.064281	1	0
DMD	1756	broad.mit.edu	37	X	32490297	32490297	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:32490297C>A	ENST00000357033.4	-	22	3139	c.2933G>T	c.(2932-2934)aGa>aTa	p.R978I	DMD_ENST00000378677.2_Missense_Mutation_p.R974I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	978					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCCCCGAGTCTCTGCTCCAT	0.403000													25	113					2.4375e-19	3.57911e-19	0.125774	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72009061	72009061	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:72009061G>A	ENST00000378743.3	-	28	5538	c.5180C>T	c.(5179-5181)cCa>cTa	p.P1727L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1727					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TAAACGAGATGGAATGTCAAT	0.338000													10	85					0	0	0.093190	0	0
DHRS3	9249	broad.mit.edu	37	1	12677211	12677211	+	Missense_Mutation	SNP	C	C	T	rs147390617		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:12677211C>T	ENST00000376223.2	-	1	526	c.143G>A	c.(142-144)aGa>aAa	p.R48K		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	48					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCCGATGCCTCTCCCGCCGCC	0.701000													15	76					0	0	0.043863	0	0
RMDN2	151393	broad.mit.edu	37	2	38179227	38179227	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:38179227C>T	ENST00000407257.1	+	2	1016	c.869C>T	c.(868-870)tCt>tTt	p.S290F	RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Missense_Mutation_p.S290F|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.S290F					regulator of microtubule dynamics 2																		TATAAAAATTCTGGTTGCTTT	0.398000													13	104					0	0	0.132662	0	0
DNTT	1791	broad.mit.edu	37	10	98064330	98064330	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:98064330T>A	ENST00000419175.1	+	1	246	c.76T>A	c.(76-78)Tct>Act	p.S26T	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.S26T	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	26					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GATGGCCTCCTCTCCTCAAGA	0.567000													12	27					0	0	0.105934	0	0
ITIH1	3697	broad.mit.edu	37	3	52818319	52818319	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:52818319G>T	ENST00000273283.2	+	11	1257	c.1233G>T	c.(1231-1233)acG>acT	p.T411T	ITIH1_ENST00000540715.1_Silent_p.T269T|ITIH1_ENST00000542827.1_Silent_p.T411T|ITIH1_ENST00000537050.1_Silent_p.T123T	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	411	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CAGGGGTGACGGACCGTTCCC	0.617000													6	13					1.26484e-09	1.56457e-09	0.038147	1	0
CD8A	925	broad.mit.edu	37	2	87017616	87017616	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:87017616C>A	ENST00000409511.2	-	5	1268	c.238G>T	c.(238-240)Gcg>Tcg	p.A80S	CD8A_ENST00000409781.1_Missense_Mutation_p.A80S|CD8A_ENST00000538832.1_Missense_Mutation_p.A121S|CD8A_ENST00000352580.3_Missense_Mutation_p.A80S|CD8A_ENST00000283635.3_Missense_Mutation_p.A80S|CD8A_ENST00000456996.2_Missense_Mutation_p.A80S	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	80	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CCCTCGGCCGCCTTGGGCTTG	0.667000													28	101					5.04308e-16	7.04816e-16	0.086207	1	0
FRMD5	84978	broad.mit.edu	37	15	44175919	44175919	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:44175919G>C	ENST00000417257.1	-	13	1293	c.1117C>G	c.(1117-1119)Cac>Gac	p.H373D	FRMD5_ENST00000484674.1_Missense_Mutation_p.H279D|FRMD5_ENST00000402883.1_Missense_Mutation_p.H373D	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	373						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ATGGAGATGTGAACAGCTCTT	0.547000													26	73					0	0	0.064281	0	0
GEM	2669	broad.mit.edu	37	8	95264412	95264412	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:95264412C>A	ENST00000297596.2	-	4	712	c.448G>T	c.(448-450)Ggg>Tgg	p.G150W	GEM_ENST00000396194.2_Missense_Mutation_p.G150W	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	150					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TATGCGTCCCCGACCTGCATG	0.517000													24	55					2.48779e-11	3.21045e-11	0.108266	1	0
OR51T1	401665	broad.mit.edu	37	11	4904000	4904000	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:4904000C>A	ENST00000380378.1	+	1	952	c.952C>A	c.(952-954)Cct>Act	p.P318T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.P291T	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGCTGAACCCTATCATTTA	0.512000													44	72					2.55665e-31	4.05644e-31	0.139131	1	0
BAGE2	85319	broad.mit.edu	37	21	11039010	11039010	+	RNA	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr21:11039010C>T	ENST00000470054.1	-	0	1193									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATGAAACATCTTTCACACAA	0.388000													17	196					0	0	0.160694	0	0
ZNF91	7644	broad.mit.edu	37	19	23542980	23542980	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:23542980C>T	ENST00000300619.7	-	4	3006	c.2801G>A	c.(2800-2802)gGa>gAa	p.G934E	ZNF91_ENST00000397082.2_Missense_Mutation_p.G902E|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	934						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGGTTTCTCTCCAGTGTGCAT	0.398000													12	115					0	0	0.160694	0	0
GRIA4	2893	broad.mit.edu	37	11	105781191	105781191	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:105781191G>T	ENST00000393127.2	+	10	1635	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F	GRIA4_ENST00000525187.1_Missense_Mutation_p.V397F|GRIA4_ENST00000282499.5_Missense_Mutation_p.V397F|GRIA4_ENST00000428631.2_Missense_Mutation_p.V397F|GRIA4_ENST00000393125.2_Missense_Mutation_p.V397F|GRIA4_ENST00000530497.1_Missense_Mutation_p.V397F	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	397					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGATAAGTTAGTCTTGATTCA	0.358000													10	63					1.08611e-07	1.27404e-07	0.080935	1	0
TMC3	342125	broad.mit.edu	37	15	81635633	81635633	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:81635633G>T	ENST00000558726.1	-	15	1839	c.1704C>A	c.(1702-1704)aaC>aaA	p.N568K	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.N567K|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	567						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCATTCCTTGGTTGTAGACTA	0.353000													16	70					1.36565e-18	1.98294e-18	0.076483	1	0
LBX2	85474	broad.mit.edu	37	2	74725136	74725136	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:74725136G>A	ENST00000460508.3	-	2	959	c.503C>T	c.(502-504)cCa>cTa	p.P168L	LBX2_ENST00000377566.4_Missense_Mutation_p.P172L|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_3'UTR	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GCCGGGATCTGGAGCGCCTTC	0.662000													15	56					0	0	0.062417	0	0
SLC44A5	204962	broad.mit.edu	37	1	75699726	75699726	+	Silent	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:75699726T>G	ENST00000370855.5	-	12	911	c.798A>C	c.(796-798)atA>atC	p.I266I	SLC44A5_ENST00000535611.1_Silent_p.I136I|SLC44A5_ENST00000370859.3_Silent_p.I266I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	266						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGCATCCAGCTATGAACCTCA	0.393000													17	48					0	0	0.055883	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255703	50255703	+	RNA	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:50255703C>G	ENST00000420502.1	+	0	1090							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TCCCCACAGCCCCTCCAAGAA	0.552000													28	54					0	0	0.125774	0	0
TTC37	9652	broad.mit.edu	37	5	94849318	94849318	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:94849318T>A	ENST00000358746.2	-	27	3033	c.2735A>T	c.(2734-2736)gAc>gTc	p.D912V	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	912							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCCATGGTGTCATAACTTCC	0.328000													29	23					0	0	0.080422	0	0
CCT6B	10693	broad.mit.edu	37	17	33266313	33266313	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:33266313T>A	ENST00000314144.5	-	10	1217	c.1102A>T	c.(1102-1104)Aac>Tac	p.N368Y	CCT6B_ENST00000421975.3_Missense_Mutation_p.N331Y|CCT6B_ENST00000436961.3_Missense_Mutation_p.N323Y	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	368					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	p.N368Y(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GAGCAAGGGTTAACACACTCC	0.343000													16	83					0	0	0.175082	0	0
MIR541	100126308	broad.mit.edu	37	14	101530842	101530842	+	RNA	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:101530842A>G	ENST00000401360.1	+	0	11					NR_030594.1																						ACGTCAGGGAAAGGATTCTGC	0.552000													8	47					0	0	0.069234	0	0
NT5C1A	84618	broad.mit.edu	37	1	40124910	40124910	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:40124910C>A	ENST00000235628.1	-	6	989	c.990G>T	c.(988-990)caG>caT	p.Q330H		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	330					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CATGGAACATCTGGTCATCAA	0.607000													10	53					1.33987e-11	1.73767e-11	0.069234	1	0
CDS2	8760	broad.mit.edu	37	20	5167438	5167438	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:5167438C>T	ENST00000460006.1	+	10	1241	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Intron|CDS2_ENST00000379062.4_Silent_p.L192L	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	312					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CCTGTTTCGCCTGCAGGAGTA	0.547000													138	44					0	0	0.139131	0	0
CNTN2	6900	broad.mit.edu	37	1	205042860	205042860	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:205042860G>A	ENST00000331830.4	+	23	3374	c.3090G>A	c.(3088-3090)gcG>gcA	p.A1030A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1030					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTCCGTGGCGATGCTGATCC	0.622000													10	54					0	0	0.105934	0	0
TRHDE	29953	broad.mit.edu	37	12	72667195	72667195	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:72667195C>A	ENST00000261180.4	+	1	733	c.637C>A	c.(637-639)Caa>Aaa	p.Q213K	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	213					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCTCTACCCGCAAACCCAGGT	0.567000													12	114					6.31663e-08	7.45148e-08	0.132662	1	0
NAGA	4668	broad.mit.edu	37	22	42464492	42464492	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:42464492G>A	ENST00000396398.3	-	2	635	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	NAGA_ENST00000403363.1_Missense_Mutation_p.R35C|NAGA_ENST00000402937.1_Missense_Mutation_p.R35C	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	35					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CAGCGGAAGCGTTCCCAGGCC	0.587000													10	106					0	0	0.069234	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906650	56906650	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:56906650C>T	ENST00000438926.2	+	8	1076	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P	SLC12A3_ENST00000563236.1_Silent_p.P349P|SLC12A3_ENST00000262502.5_Silent_p.P348P|SLC12A3_ENST00000566786.1_Silent_p.P348P	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	349			P -> L (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCTTCTTCCCCTCGGCCACAG	0.567000													14	69					0	0	0.132662	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929228	45929228	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr21:45929228C>G	ENST00000323084.4	-	10	1673	c.1608G>C	c.(1606-1608)gaG>gaC	p.E536D	TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR_ENST00000397916.1_Missense_Mutation_p.E468D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	536					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGAAGATCCTCTCCCCGATCT	0.572000													8	17					0	0	0.069234	0	0
FBXO27	126433	broad.mit.edu	37	19	39517606	39517606	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:39517606G>A	ENST00000292853.4	-	5	731	c.612C>T	c.(610-612)ctC>ctT	p.L204L	FBXO27_ENST00000509137.2_Silent_p.L204L|FBXO27_ENST00000600828.1_Silent_p.L203L	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	204	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GTTGGACGAGGAGTCTGTACA	0.562000													113	80					0	0	0.139131	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542546	182542546	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:182542546C>A	ENST00000295108.3	-	2	1499	c.1042G>T	c.(1042-1044)Gcc>Tcc	p.A348S	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	348					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTGAGCTGGGCACTCATGACT	0.493000													59	120					1.7104e-27	2.6852e-27	0.139131	1	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GGCAACTGACCGTGCAAGTCA	0.537000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			41	34					4.78724e-31	7.58404e-31	0.139131	1	0
SLC17A8	246213	broad.mit.edu	37	12	100811895	100811895	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:100811895G>T	ENST00000323346.5	+	11	1699	c.1386G>T	c.(1384-1386)atG>atT	p.M462I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.M412I|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	462					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTCTGGAATGGTCTGTCCCC	0.502000													48	57					6.60958e-23	1.00736e-22	0.139131	1	0
GLRX3	10539	broad.mit.edu	37	10	131973129	131973129	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:131973129A>T	ENST00000368644.1	+	9	846		c.e9-1		GLRX3_ENST00000331244.5_Splice_Site	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3						cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TCTTTTTTGCAGTGTTGAATA	0.318000													38	26					0	0	0.124865	0	0
ANKH	56172	broad.mit.edu	37	5	14769115	14769115	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:14769115C>T	ENST00000284268.6	-	2	612	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	94					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.G94G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGCGATGGCCCCTGCCACCA	0.502000													9	67					0	0	0.146539	0	0
AP4E1	23431	broad.mit.edu	37	15	51285706	51285706	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:51285706G>T	ENST00000261842.5	+	17	2336	c.2230G>T	c.(2230-2232)Gct>Tct	p.A744S	AP4E1_ENST00000560508.1_Missense_Mutation_p.A669S	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	744					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGTAGATCAAGCTATAACTAA	0.408000													4	32					0.00909568	0.00942988	0.150653	1	0
DMRT1	1761	broad.mit.edu	37	9	968083	968083	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:968083C>A	ENST00000382276.3	+	5	1215	c.1066C>A	c.(1066-1068)Cct>Act	p.P356T	DMRT1_ENST00000569227.1_Missense_Mutation_p.P198T	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	356					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGAATGTGAGCCTGCGTCGGA	0.557000													27	55					1.08312e-15	1.4997e-15	0.144211	1	0
CHRNA3	1136	broad.mit.edu	37	15	78888978	78888978	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:78888978G>C	ENST00000326828.5	-	6	1870	c.1486C>G	c.(1486-1488)Ctg>Gtg	p.L496V	CHRNA3_ENST00000348639.3_Intron	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	496					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGGGTTGCAGAAACAATCCT	0.498000													36	71					0	0	0.086207	0	0
TRAF6	7189	broad.mit.edu	37	11	36511633	36511633	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:36511633C>A	ENST00000526995.1	-	7	1570	c.1324G>T	c.(1324-1326)Gta>Tta	p.V442L	TRAF6_ENST00000348124.5_Missense_Mutation_p.V442L	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	442	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TTTTGCCTTACAGGTGCTTCA	0.483000													21	24					3.8784e-16	5.43497e-16	0.062417	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68029586	68029586	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:68029586C>A	ENST00000329153.5	+	7	1370	c.1238C>A	c.(1237-1239)cCc>cAc	p.P413H		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	413						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCACCTACACCCCCGCTGCAC	0.597000													9	30					7.03913e-09	8.52535e-09	0.093190	1	0
CSNK2A3	283106	broad.mit.edu	37	11	11373856	11373856	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:11373856C>T	ENST00000528848.2	-	1	1048	c.811G>A	c.(811-813)Gat>Aat	p.D271N	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		CCCAAGATATCATTGAAACGT	0.428000													11	98					0	0	0.093190	0	0
MTOR	2475	broad.mit.edu	37	1	11300539	11300539	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:11300539T>G	ENST00000361445.4	-	11	1683	c.1607A>C	c.(1606-1608)cAa>cCa	p.Q536P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	536					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TAGCCCATCTTGAATGTCCTT	0.577000													39	85					0	0	0.139131	0	0
MUC3A	4584	broad.mit.edu	37	7	100551536	100551536	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:100551536C>T	ENST00000319509.7	+	1	287	c.287C>T	c.(286-288)aCc>aTc	p.T96I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTGTGGGCACCACCTCTCCC	0.458000													5	123					0	0	0.062417	0	0
INSRR	3645	broad.mit.edu	37	1	156815791	156815791	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156815791C>A	ENST00000368195.3	-	9	2327	c.1931G>T	c.(1930-1932)cGg>cTg	p.R644L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	644	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTGCCAGCCGCTGCCACAG	0.677000													24	31					7.41945e-09	8.97556e-09	0.108266	1	0
KIRREL	55243	broad.mit.edu	37	1	158045998	158045998	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:158045998A>T	ENST00000368173.3	+	2	552	c.148A>T	c.(148-150)Att>Ttt	p.I50F	KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000359209.6_Missense_Mutation_p.I50F|KIRREL_ENST00000360089.4_5'UTR|KIRREL_ENST00000392272.2_Missense_Mutation_p.I50F	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	50	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTACTCTGGAATTGTGCAATG	0.637000													34	93					0	0	0.092188	0	0
CCL11	6356	broad.mit.edu	37	17	32614165	32614165	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:32614165C>G	ENST00000305869.3	+	2	268	c.127C>G	c.(127-129)Ctt>Gtt	p.L43V		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	43					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GAAGATACCCCTTCAGCGACT	0.428000													18	76					0	0	0.076483	0	0
KCNA6	3742	broad.mit.edu	37	12	4920437	4920437	+	Silent	SNP	G	G	A	rs148141793		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:4920437G>A	ENST00000433855.1	+	1	2096	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	KCNA6_ENST00000280684.3_Silent_p.P410P	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	410						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCAGCATCCCGGATGCCTTCT	0.567000										HNSCC(72;0.22)			49	82					0	0	0.139131	0	0
HECTD4	283450	broad.mit.edu	37	12	112717042	112717042	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:112717042T>C	ENST00000550722.1	-	9	1640	c.1245A>G	c.(1243-1245)tcA>tcG	p.S415S	HECTD4_ENST00000430131.2_Silent_p.S165S|HECTD4_ENST00000377560.5_Silent_p.S415S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TTTTTAAAGATGACAAACCAC	0.398000													45	18					0	0	0.139131	0	0
DRD2	1813	broad.mit.edu	37	11	113281511	113281511	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:113281511T>C	ENST00000362072.3	-	8	1614	c.1270A>G	c.(1270-1272)Atc>Gtc	p.I424V	RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000544518.1_Missense_Mutation_p.I423V|DRD2_ENST00000538967.1_Missense_Mutation_p.I426V|DRD2_ENST00000355319.2_Missense_Mutation_p.I426V|DRD2_ENST00000346454.3_Missense_Mutation_p.I395V|DRD2_ENST00000542968.1_Missense_Mutation_p.I424V	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	424					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GTGTAGATGATGGGGTTCACG	0.567000													30	100					0	0	0.163468	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													4	45					0	0	0.021553	0	0
PYGO1	26108	broad.mit.edu	37	15	55839204	55839204	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:55839204G>A	ENST00000302000.6	-	3	371	c.277C>T	c.(277-279)Cct>Tct	p.P93S	PYGO1_ENST00000563719.1_Missense_Mutation_p.P93S	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	93	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGATAACCAGGGCCAAGATAT	0.438000													23	120					0	0	0.144211	0	0
OTOF	9381	broad.mit.edu	37	2	26689665	26689665	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:26689665C>A	ENST00000272371.2	-	36	4543	c.4417G>T	c.(4417-4419)Ggc>Tgc	p.G1473C	OTOF_ENST00000403946.3_Missense_Mutation_p.G1473C|OTOF_ENST00000339598.3_Missense_Mutation_p.G706C|OTOF_ENST00000402415.3_Missense_Mutation_p.G783C|OTOF_ENST00000338581.6_Missense_Mutation_p.G706C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1473					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTCGTAGCCGGCTTCCCGG	0.607000													42	103					1.11015e-26	1.74023e-26	0.139131	1	0
FAT3	120114	broad.mit.edu	37	11	92543184	92543184	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:92543184T>C	ENST00000298047.6	+	12	9440	c.9423T>C	c.(9421-9423)taT>taC	p.Y3141Y	FAT3_ENST00000525166.1_Silent_p.Y2991Y|FAT3_ENST00000409404.2_Silent_p.Y3141Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3141	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGTGTCTATGAGAACACAG	0.527000										TCGA Ovarian(4;0.039)			25	40					0	0	0.116897	0	0
EPB41L3	23136	broad.mit.edu	37	18	5394744	5394744	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:5394744A>T	ENST00000341928.2	-	22	3542	c.3202T>A	c.(3202-3204)Tca>Aca	p.S1068T	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S373T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S365T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.S846T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.S846T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S1068T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1068	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTGGTCACTGACATGTCAGGG	0.507000													19	274					0	0	0.099896	0	0
DNAH7	56171	broad.mit.edu	37	2	196865601	196865601	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:196865601C>T	ENST00000312428.6	-	12	1280	c.1180G>A	c.(1180-1182)Gtt>Att	p.V394I	DNAH7_ENST00000410072.1_Missense_Mutation_p.V394I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	394	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAGCTCTAACAGAATCCTGC	0.333000													18	42					0	0	0.043863	0	0
UHMK1	127933	broad.mit.edu	37	1	162470701	162470701	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:162470701A>T	ENST00000489294.1	+	3	719		c.e3-1		UHMK1_ENST00000545294.1_Splice_Site|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Splice_Site	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1						cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CATCTTTTTTAGGATGTAAAG	0.423000													23	28					0	0	0.091800	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999519	72999519	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:72999519C>T	ENST00000322038.5	+	2	2606	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L	TSHZ1_ENST00000580243.1_Silent_p.L719L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	719						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGAGCCTCTCAAAGCAAAGG	0.572000													6	31					0	0	0.038147	0	0
SEC23A	10484	broad.mit.edu	37	14	39512034	39512034	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:39512034G>C	ENST00000537403.1	-	13	2538	c.1336C>G	c.(1336-1338)Ctt>Gtt	p.L446V	SEC23A_ENST00000545328.2_Missense_Mutation_p.L619V|SEC23A_ENST00000536508.1_Missense_Mutation_p.L546V|SEC23A_ENST00000307712.6_Missense_Mutation_p.L648V			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	648					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCATGAGAAGAATACGATCT	0.328000													5	107					0	0	0.014758	0	0
C20orf26	26074	broad.mit.edu	37	20	20279030	20279030	+	Splice_Site	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:20279030G>C	ENST00000245957.5	+	25	3498	c.3422_splice	c.e25+1	p.S1141_splice	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1141										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GATCTCTATAGGTGAGTTGGA	0.463000													38	10					0	0	0.086207	0	0
FILIP1	27145	broad.mit.edu	37	6	76124490	76124490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:76124490G>A	ENST00000393004.2	-	2	420	c.199C>T	c.(199-201)Cga>Tga	p.R67*	FILIP1_ENST00000237172.7_Nonsense_Mutation_p.R67*			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	67										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTAGTTTTTCGTTCACATTCT	0.408000													23	175					0	0	0.083992	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967171	41967171	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:41967171G>A	ENST00000298919.7	+	10	2198	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E606K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E864K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	864							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATCTGCAGTCGAGTATGCTCA	0.478000													5	132					0	0	0.021553	0	0
MGAT5B	146664	broad.mit.edu	37	17	74922712	74922712	+	Silent	SNP	G	G	A	rs144217759		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:74922712G>A	ENST00000569840.2	+	10	1765	c.1191G>A	c.(1189-1191)acG>acA	p.T397T	MGAT5B_ENST00000301618.4_Silent_p.T397T|MGAT5B_ENST00000428789.2_Silent_p.T408T	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	397						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTTCGGGACGGAACCTGCGT	0.622000													16	49					0	0	0.146539	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934685	49934685	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:49934685G>C	ENST00000221485.3	-	10	1342	c.1171C>G	c.(1171-1173)Ctg>Gtg	p.L391V	SLC17A7_ENST00000600601.1_Missense_Mutation_p.L324V|SLC17A7_ENST00000543531.1_Missense_Mutation_p.L379V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	391					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		ACCAACAGCAGCGTGGCTTCC	0.687000													9	50					0	0	0.080935	0	0
ECEL1	9427	broad.mit.edu	37	2	233349546	233349546	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:233349546C>A	ENST00000304546.1	-	5	1234	c.1024G>T	c.(1024-1026)Gtg>Ttg	p.V342L	ECEL1_ENST00000409941.1_Missense_Mutation_p.V342L	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	342					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCAGCGTCACCTTGTTGTAC	0.602000													20	113					2.61193e-14	3.54598e-14	0.144211	1	0
USP32	84669	broad.mit.edu	37	17	58303470	58303470	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:58303470C>T	ENST00000300896.4	-	13	1556	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	USP32_ENST00000592339.1_Silent_p.V124V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	454	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGTAGTATTCACGTAACTGA	0.428000													21	99					0	0	0.083992	0	0
HUWE1	10075	broad.mit.edu	37	X	53672342	53672342	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:53672342C>G	ENST00000342160.3	-	6	882	c.425G>C	c.(424-426)aGc>aCc	p.S142T	HUWE1_ENST00000218328.8_Missense_Mutation_p.S142T|HUWE1_ENST00000262854.6_Missense_Mutation_p.S142T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	142					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCTTTTGCTAAATACATA	0.453000													7	67					0	0	0.058154	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166819	100166819	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:100166819G>C	ENST00000547776.2	-	8	1008	c.1009C>G	c.(1009-1011)Ctc>Gtc	p.L337V	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.L337V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	337						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTTGACAGAGTTTTATTTCA	0.333000													25	19					0	0	0.134883	0	0
ZP4	57829	broad.mit.edu	37	1	238048129	238048129	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:238048129C>A	ENST00000366570.4	-	10	1488	c.1330G>T	c.(1330-1332)Gtg>Ttg	p.V444L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	444	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGACTGACACGCTGCAGTGC	0.507000													14	29					1.33834e-09	1.65352e-09	0.043863	1	0
ERN2	10595	broad.mit.edu	37	16	23713983	23713983	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:23713983C>T	ENST00000256797.4	-	9	1207	c.1039G>A	c.(1039-1041)Gtc>Atc	p.V347I	ERN2_ENST00000457008.2_Missense_Mutation_p.V299I	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	299					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTTTAGAGACATAGAAGCCA	0.488000													20	53					0	0	0.108266	0	0
IGLV4-60	28785	broad.mit.edu	37	22	22516916	22516916	+	RNA	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:22516916G>T	ENST00000390284.2	+	0	204																											CTCGGTACTTGATGAAGCTTG	0.577000													9	17					0.0477658	0.0487463	0.047766	1	0
PCDHA9	9752	broad.mit.edu	37	5	140389313	140389313	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:140389313G>T	ENST00000532602.1	+	4	3677	c.2644G>T	c.(2644-2646)Ggt>Tgt	p.G882C	PCDHA8_ENST00000531613.1_Missense_Mutation_p.G882C|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.G939C|PCDHA6_ENST00000529310.1_Missense_Mutation_p.G882C|PCDHA1_ENST00000504120.2_Missense_Mutation_p.G882C|PCDHA5_ENST00000529859.1_Missense_Mutation_p.G868C|PCDHA4_ENST00000512229.2_Splice_Site_p.E879_splice|PCDHA13_ENST00000409494.1_Splice_Site_p.E882_splice|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G618C|PCDHA2_ENST00000526136.1_Missense_Mutation_p.G880C|PCDHA11_ENST00000398640.2_Missense_Mutation_p.G881C|PCDHA3_ENST00000522353.2_Missense_Mutation_p.G882C|PCDHA7_ENST00000525929.1_Missense_Mutation_p.G869C|PCDHA5_ENST00000529619.1_Splice_Site_p.E868_splice|PCDHA12_ENST00000398631.2_Missense_Mutation_p.G873C|PCDHA4_ENST00000530339.1_Missense_Mutation_p.G879C|PCDHA13_ENST00000289272.2_Missense_Mutation_p.G882C|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G618C|PCDHA10_ENST00000307360.5_Missense_Mutation_p.G880C|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G617C|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.G895C	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCGGTCCCGGTGAGTTGCC	0.522000													13	59					4.36969e-10	5.44386e-10	0.105934	1	0
AMDHD1	144193	broad.mit.edu	37	12	96354210	96354210	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:96354210A>G	ENST00000266736.2	+	5	728	c.622A>G	c.(622-624)Atc>Gtc	p.I208V		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	208					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TGATGACATCATCAATAACCA	0.403000													8	43					0	0	0.069234	0	0
DSN1	79980	broad.mit.edu	37	20	35386512	35386512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:35386512C>A	ENST00000426836.1	-	8	1075	c.703G>T	c.(703-705)Gag>Tag	p.E235*	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Nonsense_Mutation_p.E235*|DSN1_ENST00000448110.1_Nonsense_Mutation_p.E219*|DSN1_ENST00000373734.4_Nonsense_Mutation_p.E128*|DSN1_ENST00000373750.4_Nonsense_Mutation_p.E235*|DSN1_ENST00000373740.3_Nonsense_Mutation_p.E163*	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	235					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	p.E235*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TCTTTAGCCTCCTGCTGGTAG	0.338000													12	25					2.48551e-13	3.32249e-13	0.160694	1	0
BCL2L13	23786	broad.mit.edu	37	22	18178955	18178955	+	Silent	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:18178955T>A	ENST00000317582.5	+	5	782	c.435T>A	c.(433-435)gtT>gtA	p.V145V	BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000493680.1_Silent_p.V145V|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000399782.1_Silent_p.V145V|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000418951.2_Intron	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	145					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		AGACCACAGTTCATGCCAGCG	0.383000													10	49					0	0	0.105934	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626829	108626829	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:108626829C>A	ENST00000264047.2	+	9	1531	c.1255C>A	c.(1255-1257)Ccc>Acc	p.P419T	SLC5A7_ENST00000540517.1_Missense_Mutation_p.P314T|SLC5A7_ENST00000409059.1_Missense_Mutation_p.P419T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	419					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CGTTATCTTCCCCCAGCTGCT	0.502000													25	57					3.11337e-16	4.37465e-16	0.173368	1	0
VCAN	1462	broad.mit.edu	37	5	82833991	82833991	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:82833991G>C	ENST00000265077.3	+	8	5734	c.5169G>C	c.(5167-5169)aaG>aaC	p.K1723N	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.K736N|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1723	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGAGGAAAAGAAAAGGAAGG	0.408000													18	61					0	0	0.069288	0	0
PNMA5	114824	broad.mit.edu	37	X	152159695	152159695	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:152159695G>A	ENST00000439251.1	-	2	886	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	PNMA5_ENST00000452693.1_Missense_Mutation_p.P150S|PNMA5_ENST00000361887.5_Missense_Mutation_p.P150S|PNMA5_ENST00000535214.1_Missense_Mutation_p.P150S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	150					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCTTTCGGAGGCTCTAAA	0.542000													8	158					0	0	0.047766	0	0
DLC1	10395	broad.mit.edu	37	8	13356917	13356917	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:13356917C>T	ENST00000276297.4	-	2	1073	c.664G>A	c.(664-666)Gag>Aag	p.E222K	DLC1_ENST00000511869.1_Missense_Mutation_p.E222K|DLC1_ENST00000316609.5_Missense_Mutation_p.E222K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	222					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATTGTTTCTCAGGTGCAATA	0.383000													26	101					0	0	0.144211	0	0
WDR93	56964	broad.mit.edu	37	15	90255262	90255262	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:90255262T>C	ENST00000268130.7	+	5	668	c.567T>C	c.(565-567)gaT>gaC	p.D189D	WDR93_ENST00000560294.1_Silent_p.D189D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	189					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCAGGATGATACCAGCAAGC	0.448000													10	54					0	0	0.093190	0	0
OR5F1	338674	broad.mit.edu	37	11	55761839	55761839	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55761839T>C	ENST00000278409.1	-	1	262	c.263A>G	c.(262-264)gAg>gGg	p.E88G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGTTTTCTTCTCTGATAATAA	0.448000													16	57					0	0	0.175082	0	0
MAOB	4129	broad.mit.edu	37	X	43626797	43626797	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:43626797G>C	ENST00000378069.4	-	15	1626	c.1479C>G	c.(1477-1479)ctC>ctG	p.L493L	MAOB_ENST00000538942.1_3'UTR|MAOB_ENST00000536181.1_Silent_p.L477L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	493					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CAATCAGCCTGAGCAGGCCTG	0.522000													25	43					0	0	0.144211	0	0
ZNF441	126068	broad.mit.edu	37	19	11892146	11892146	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:11892146C>T	ENST00000357901.4	+	4	1609	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	ZNF441_ENST00000454339.2_Missense_Mutation_p.H436Y	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCATAAATGTAA	0.403000													29	48					0	0	0.098360	0	0
NMRAL1	57407	broad.mit.edu	37	16	4511851	4511851	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:4511851C>G	ENST00000574733.1	-	6	1559	c.830G>C	c.(829-831)aGa>aCa	p.R277T	NMRAL1_ENST00000283429.6_Missense_Mutation_p.R277T|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R277T|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R277T			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	277						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGGGTTGAGTCTCAGGGTCAG	0.617000													24	166					0	0	0.144211	0	0
FCRL5	83416	broad.mit.edu	37	1	157494040	157494040	+	Silent	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:157494040T>A	ENST00000368190.3	-	10	2360	c.2268A>T	c.(2266-2268)acA>acT	p.T756T	FCRL5_ENST00000361835.3_Intron|FCRL5_ENST00000368191.3_Silent_p.T671T|FCRL5_ENST00000356953.4_Intron			Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	0	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTTCTCAGATGTGCTGCTGG	0.572000													15	30					0	0	0.146539	0	0
GPR114	221188	broad.mit.edu	37	16	57597831	57597831	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:57597831G>T	ENST00000340339.4	+	5	892	c.369G>T	c.(367-369)aaG>aaT	p.K123N	GPR114_ENST00000349457.3_Missense_Mutation_p.K123N|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACGCCTGCAAGACCCGCCCCA	0.647000													7	81					2.17888e-05	2.41481e-05	0.058154	1	0
COL19A1	1310	broad.mit.edu	37	6	70646689	70646689	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:70646689G>T	ENST00000322773.4	+	8	862	c.760G>T	c.(760-762)Gat>Tat	p.D254Y		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	254					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCAGAGCAGGATGGCTTTGG	0.438000													20	79					3.7963e-18	5.47423e-18	0.083992	1	0
COL19A1	1310	broad.mit.edu	37	6	70897948	70897948	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:70897948C>T	ENST00000322773.4	+	47	3128	c.3027_splice	c.e47+1	p.P1009_splice	COL19A1_ENST00000393344.1_Splice_Site_p.P631_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1009	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTGGCATTCCGGTAAGTAGT	0.522000													10	14					0	0	0.093190	0	0
DAGLB	221955	broad.mit.edu	37	7	6487448	6487448	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:6487448C>A	ENST00000297056.6	-	1	195	c.26G>T	c.(25-27)cGg>cTg	p.R9L	DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000428902.2_5'UTR|DAGLB_ENST00000436575.1_Intron|DAGLB_ENST00000421761.2_5'UTR|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000425398.2_Missense_Mutation_p.R9L	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	9					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCCCAGCGCCGGCCGAAGAG	0.672000													4	19					0.014758	0.0152246	0.014758	1	0
FCGBP	8857	broad.mit.edu	37	19	40430340	40430340	+	Missense_Mutation	SNP	C	C	A	rs148563964		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:40430340C>A	ENST00000221347.6	-	3	1610	c.1603G>T	c.(1603-1605)Gcc>Tcc	p.A535S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	535	VWFD 1.					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)			TGGCTGTAGGCGCGCACAGTG	0.667000													8	49					2.80697e-09	3.41946e-09	0.080935	1	0
KLHL30	377007	broad.mit.edu	37	2	239057733	239057733	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:239057733C>T	ENST00000409223.1	+	7	1532	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	KLHL30_ENST00000305959.4_Silent_p.L457L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	475										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGCTCTACCTCATTGGGGACA	0.657000													6	26					0	0	0.029380	0	0
USH1G	124590	broad.mit.edu	37	17	72919127	72919127	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:72919127C>A	ENST00000319642.1	-	1	224	c.42G>T	c.(40-42)ctG>ctT	p.L14L		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	14					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TGAGGAGCTCCAGGTAGCCAT	0.687000													5	2					2.7689e-08	3.31886e-08	0.029380	1	0
IL21R	50615	broad.mit.edu	37	16	27454428	27454428	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:27454428C>A	ENST00000337929.3	+	5	971	c.498C>A	c.(496-498)ccC>ccA	p.P166P	IL21R_ENST00000564089.1_Silent_p.P166P|IL21R_ENST00000395754.4_Silent_p.P166P|IL21R_ENST00000395755.1_Silent_p.P166P	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	166	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGGAGACCCCTGGGCTGTGG	0.557000			T	BCL6	NHL								13	31					0.000308642	0.000333218	0.132662	1	0
SAMD11	148398	broad.mit.edu	37	1	877627	877627	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:877627C>A	ENST00000342066.3	+	9	1064	c.981C>A	c.(979-981)acC>acA	p.T327T		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	327						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGTGCCAGACCCCAGGTGAGG	0.741000													4	11					2.56e-06	2.90504e-06	0.150653	1	0
TMEM246	84302	broad.mit.edu	37	9	104238469	104238469	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:104238469C>G	ENST00000374851.1	-	4	2053	c.906G>C	c.(904-906)atG>atC	p.M302I	RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.M302I|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.M302I|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	302						integral to membrane		p.M302I(1)									CCACCAGACCCATGCTATACA	0.567000													55	42					0	0	0.139131	0	0
MYO3A	53904	broad.mit.edu	37	10	26465695	26465695	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:26465695G>T	ENST00000265944.5	+	31	4525	c.4359G>T	c.(4357-4359)caG>caT	p.Q1453H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1453					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.Q1453Q(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTTTGTCACAGCAACTGAAGT	0.358000													24	27					6.38683e-12	8.33481e-12	0.134883	1	0
TGFBR2	7048	broad.mit.edu	37	3	30733001	30733001	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:30733001C>T	ENST00000295754.5	+	7	1996	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	TGFBR2_ENST00000359013.4_Silent_p.F563F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	538	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAGAACGCTTCAGTGAGCTGG	0.587000													10	84					0	0	0.080935	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362965	19362965	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:19362965C>A	ENST00000454498.2	-	4	1394	c.381G>T	c.(379-381)caG>caT	p.Q127H	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.Q127H|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.Q127H|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.Q127H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.Q127H	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	127					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCTTGTCCACCTGCGAGTGCA	0.592000													24	52					8.88839e-20	1.31624e-19	0.153744	1	0
ZNF335	63925	broad.mit.edu	37	20	44596595	44596595	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:44596595C>G	ENST00000322927.2	-	5	692	c.592G>C	c.(592-594)Gat>Cat	p.D198H	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Missense_Mutation_p.D43H	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTGGGGCCATCTGCCAGGGCC	0.657000													8	51					0	0	0.038147	0	0
SRGAP1	57522	broad.mit.edu	37	12	64437254	64437254	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:64437254C>A	ENST00000355086.3	+	6	1224	c.700C>A	c.(700-702)Cta>Ata	p.L234I	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L194I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L234I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	234					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGAAAATAAGCTAAAATCAAT	0.343000													33	16					8.69298e-16	1.20845e-15	0.092188	1	0
CAMK2B	816	broad.mit.edu	37	7	44281927	44281927	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:44281927C>T	ENST00000395749.2	-	10	785	c.709G>A	c.(709-711)Gag>Aag	p.E237K	CAMK2B_ENST00000258682.6_Missense_Mutation_p.E237K|CAMK2B_ENST00000353625.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000395747.2_Missense_Mutation_p.E237K|CAMK2B_ENST00000440254.2_Missense_Mutation_p.E237K|CAMK2B_ENST00000457475.1_Missense_Mutation_p.E237K|CAMK2B_ENST00000502837.2_Missense_Mutation_p.E108K|CAMK2B_ENST00000346990.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000350811.3_Missense_Mutation_p.E237K|CAMK2B_ENST00000347193.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000358707.3_Missense_Mutation_p.E237K	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	237	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTGTCCCACTCAGGGGACGGG	0.607000													8	96					0	0	0.069234	0	0
FAM81B	153643	broad.mit.edu	37	5	94731844	94731844	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:94731844C>A	ENST00000283357.5	+	3	304	c.258C>A	c.(256-258)acC>acA	p.T86T	FAM81B_ENST00000506418.1_3'UTR	NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	86										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAATGTCAACCAAGAATTCTA	0.313000													35	32					1.8453e-21	2.78394e-21	0.117977	1	0
KLHL40	131377	broad.mit.edu	37	3	42727389	42727389	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:42727389G>C	ENST00000287777.4	+	1	379	c.279G>C	c.(277-279)gaG>gaC	p.E93D		NM_152393.2	NP_689606.2			kelch-like family member 40																		ACACATCAGAGATCGCGCTGG	0.642000													3	47					0	0	0.150653	0	0
HGFAC	3083	broad.mit.edu	37	4	3447974	3447974	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:3447974G>A	ENST00000382774.3	+	10	1423	c.1308G>A	c.(1306-1308)ctG>ctA	p.L436L	HGFAC_ENST00000511533.1_Silent_p.L443L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	436	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCGGGAGCCTGGTCCACACCT	0.697000													4	15					0	0	0.014758	0	0
CDH9	1007	broad.mit.edu	37	5	26885762	26885762	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:26885762C>G	ENST00000231021.4	-	11	2015	c.1843G>C	c.(1843-1845)Gct>Cct	p.A615P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	615					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCAACGAGAGCTCCCGTGCTC	0.507000													9	28					0	0	0.080935	0	0
LRRC47	57470	broad.mit.edu	37	1	3701738	3701738	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:3701738C>A	ENST00000378251.1	-	3	1134	c.1107G>T	c.(1105-1107)aaG>aaT	p.K369N	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	369					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CAGCCGTCCTCTTCTCACAGA	0.617000													38	63					3.05275e-18	4.42034e-18	0.131918	1	0
COX4I1	1327	broad.mit.edu	37	16	85838698	85838698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:85838698G>T	ENST00000564903.1	+	2	233	c.229G>T	c.(229-231)Gag>Tag	p.E77*	COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000568794.1_Nonsense_Mutation_p.E77*|COX4I1_ENST00000253452.2_Nonsense_Mutation_p.E77*|COX4I1_ENST00000562336.1_Nonsense_Mutation_p.E77*|COX4I1_ENST00000561569.1_Nonsense_Mutation_p.E77*			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	77					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				CTCCATGGATGAGAAAGTCGA	0.602000													4	32					0.00909568	0.00942988	0.150653	1	0
ASCC3	10973	broad.mit.edu	37	6	101053536	101053536	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:101053536G>A	ENST00000369162.2	-	33	5429	c.5085C>T	c.(5083-5085)ttC>ttT	p.F1695F		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1695	Helicase C-terminal 2.				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)		CTTGGTCATCGAACTGCGGCC	0.373000													11	48					0	0	0.105934	0	0
TLR5	7100	broad.mit.edu	37	1	223283956	223283956	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:223283956G>A	ENST00000540964.1	-	4	2879	c.2418C>T	c.(2416-2418)atC>atT	p.I806I	TLR5_ENST00000342210.6_Silent_p.I806I			O60602	TLR5_HUMAN	toll-like receptor 5	806	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAAAGCCTCTGATGGATTGAT	0.458000													24	29					0	0	0.099896	0	0
CTDP1	9150	broad.mit.edu	37	18	77477965	77477965	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:77477965C>T	ENST00000299543.7	+	10	2513	c.2366C>T	c.(2365-2367)cCc>cTc	p.P789L	CTDP1_ENST00000075430.7_Missense_Mutation_p.P789L	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	789					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCCCGGGGGCCCCCAGCACCC	0.667000													4	61					0	0	0.021553	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328530	88328530	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:88328530C>T	ENST00000325089.6	+	2	1106	c.887C>T	c.(886-888)cCg>cTg	p.P296L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P55L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	296						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAGATGAGGCCGCAGACGCCT	0.532000													30	41					0	0	0.086207	0	0
POLA1	5422	broad.mit.edu	37	X	24735405	24735405	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:24735405A>T	ENST00000379068.3	+	9	749		c.e9-1		POLA1_ENST00000379059.3_Splice_Site			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit						cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGATGCCTACAGGCGATGATG	0.463000													10	46					0	0	0.119110	0	0
ZP4	57829	broad.mit.edu	37	1	238046086	238046086	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:238046086G>T	ENST00000366570.4	-	11	1609	c.1451C>A	c.(1450-1452)cCc>cAc	p.P484H	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	484					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGAATCATGGGGCCTTTGCT	0.398000													23	53					2.41591e-17	3.43158e-17	0.099896	1	0
MCF2	4168	broad.mit.edu	37	X	138672050	138672050	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:138672050C>A	ENST00000520602.1	-	23	2779	c.2494G>T	c.(2494-2496)Gat>Tat	p.D832Y	MCF2_ENST00000370578.4_Missense_Mutation_p.D917Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D772Y|MCF2_ENST00000370576.4_Missense_Mutation_p.D772Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D788Y|MCF2_ENST00000536274.1_Missense_Mutation_p.D733Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D848Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D832Y			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	772					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGCGGTTATCACCTTTTACA	0.299000													26	37					9.04072e-19	1.32007e-18	0.183431	1	0
DNAH8	1769	broad.mit.edu	37	6	38705690	38705690	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:38705690C>T	ENST00000359357.3	+	5	661	c.407C>T	c.(406-408)tCa>tTa	p.S136L	DNAH8_ENST00000449981.2_Missense_Mutation_p.S353L|DNAH8_ENST00000441566.1_Missense_Mutation_p.S136L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCCAGCAACTCAGAAACTGTT	0.393000													18	304					0	0	0.069288	0	0
PLA2G7	7941	broad.mit.edu	37	6	46690628	46690628	+	Translation_Start_Site	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:46690628T>A	ENST00000274793.7	-	2	197	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000537365.1_Start_Codon_SNP_p.M1L|PLA2G7_ENST00000538237.1_Intron	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	1					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GGTGGCACCATCTTGGGAGCT	0.438000													26	17					0	0	0.116897	0	0
MMP2	4313	broad.mit.edu	37	16	55519646	55519646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:55519646C>A	ENST00000219070.4	+	5	1298	c.789C>A	c.(787-789)taC>taA	p.Y263*	MMP2_ENST00000570308.1_Nonsense_Mutation_p.Y187*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.Y187*|MMP2_ENST00000437642.2_Nonsense_Mutation_p.Y213*	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	263	Collagen-binding.|Fibronectin type-II 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCACCACCTACAACTTTGAGA	0.562000													15	134					4.96729e-08	5.88632e-08	0.049695	1	0
TMTC3	160418	broad.mit.edu	37	12	88584229	88584229	+	Splice_Site	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:88584229G>C	ENST00000266712.6	+	12	1756		c.e12-1			NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3							integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTCTAAACAGATTATTCCTG	0.348000													12	59					0	0	0.105934	0	0
TTN	7273	broad.mit.edu	37	2	179437740	179437740	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179437740G>T	ENST00000589042.1	-	326	73343	c.73119C>A	c.(73117-73119)gtC>gtA	p.V24373V	TTN_ENST00000342992.6_Silent_p.V21805V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V15500V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.V15433V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V22732V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.V15308V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22732	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGGAGTGACAATCTGCC	0.448000													8	29					2.27111e-07	2.6433e-07	0.093190	1	0
KMT2D	8085	broad.mit.edu	37	12	49439942	49439942	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:49439942G>T	ENST00000301067.7	-	17	4598	c.4599C>A	c.(4597-4599)ggC>ggA	p.G1533G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCTCTCACAGCCTGCATGCA	0.557000													4	13					0.00909568	0.00942988	0.150653	1	0
NEB	4703	broad.mit.edu	37	2	152487259	152487259	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:152487259C>A	ENST00000427231.2	-	67	9895	c.9693G>T	c.(9691-9693)ttG>ttT	p.L3231F	NEB_ENST00000172853.10_Missense_Mutation_p.L2988F|NEB_ENST00000409198.1_Missense_Mutation_p.L2988F|NEB_ENST00000603639.1_Missense_Mutation_p.L3231F|NEB_ENST00000397345.3_Missense_Mutation_p.L3231F|NEB_ENST00000604864.1_Missense_Mutation_p.L3231F	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3231					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGCCTTGCCAACATAATCT	0.398000													3	11					0.00909568	0.00942988	0.150653	1	0
HEMGN	55363	broad.mit.edu	37	9	100692953	100692953	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:100692953G>A	ENST00000259456.3	-	4	867	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	242					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGACAAGGAAGGATTTTGGGT	0.423000													105	81					0	0	0.139131	0	0
ATXN2	6311	broad.mit.edu	37	12	111956120	111956120	+	Silent	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:111956120T>G	ENST00000377617.3	-	9	1739	c.1578A>C	c.(1576-1578)tcA>tcC	p.S526S	ATXN2_ENST00000389153.4_Silent_p.S261S|ATXN2_ENST00000550104.1_Silent_p.S526S|ATXN2_ENST00000535949.1_Silent_p.S237S|ATXN2_ENST00000542287.2_Silent_p.S261S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	526					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AAGTGGATCTTGATGGCATGG	0.453000													31	136					0	0	0.074837	0	0
TTC21B	79809	broad.mit.edu	37	2	166769059	166769059	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:166769059C>A	ENST00000243344.7	-	17	2424	c.2287G>T	c.(2287-2289)Ggc>Tgc	p.G763C		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	763						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AGTGCTTTGCCCATTTTGCTT	0.363000													15	194					3.45872e-05	3.81702e-05	0.146539	1	0
KCNAB3	9196	broad.mit.edu	37	17	7831100	7831100	+	Splice_Site	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7831100C>G	ENST00000303790.2	-	2	286		c.e2+1		RP11-1099M24.7_ENST00000573621.1_Splice_Site	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3							cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTCTGACTCACCTAGGCCAAG	0.522000													24	150					0	0	0.116897	0	0
FBXW9	84261	broad.mit.edu	37	19	12805682	12805682	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:12805682C>T	ENST00000380339.3	-	2	516	c.480G>A	c.(478-480)ggG>ggA	p.G160G	FBXW9_ENST00000587955.1_Silent_p.G150G|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Silent_p.G160G			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	160							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CGACCCAGCGCCCATCCTCTG	0.642000													4	23					0	0	0.014758	0	0
OR8I2	120586	broad.mit.edu	37	11	55860955	55860955	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:55860955C>A	ENST00000302124.2	+	1	203	c.172C>A	c.(172-174)Cct>Act	p.P58T	OR8I2_ENST00000560768.1_Missense_Mutation_p.P58T			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCTTCACACCCCTATGTACTT	0.378000													68	112					1.20873e-29	1.9091e-29	0.139131	1	0
SNX29P2	440352	broad.mit.edu	37	16	29376190	29376190	+	RNA	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:29376190G>A	ENST00000398878.3	+	0	1618				SNX29P2_ENST00000507381.1_RNA																							AAGCCCCTTCGGGCCAAACTC	0.498000													13	71					0	0	0.043863	0	0
ACAN	176	broad.mit.edu	37	15	89383370	89383370	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:89383370C>G	ENST00000439576.2	+	4	956	c.582C>G	c.(580-582)gaC>gaG	p.D194E	ACAN_ENST00000558207.1_Missense_Mutation_p.D194E|ACAN_ENST00000559004.1_Missense_Mutation_p.D194E|ACAN_ENST00000561243.1_Missense_Mutation_p.D194E|ACAN_ENST00000352105.7_Missense_Mutation_p.D194E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	194					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTACGAAGACGGCTTCCACC	0.647000													3	19					0	0	0.150653	0	0
TTN	7273	broad.mit.edu	37	2	179600657	179600657	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179600657G>T	ENST00000589042.1	-	50	14740	c.14516C>A	c.(14515-14517)cCt>cAt	p.P4839H	TTN_ENST00000342992.6_Missense_Mutation_p.P3595H|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P4522H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4522	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCAGTTAGGTGAAGGTGA	0.438000													23	70					1.61788e-16	2.27944e-16	0.163468	1	0
APOM	55937	broad.mit.edu	37	6	31625865	31625865	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:31625865G>A	ENST00000375916.3	+	6	1062	c.566G>A	c.(565-567)tGa>tAa	p.*189*	APOM_ENST00000375920.4_Silent_p.*117*	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	0					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TCCAATAACTGACCTGTAACT	0.502000													18	123					0	0	0.062417	0	0
KLHL18	23276	broad.mit.edu	37	3	47371576	47371576	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:47371576G>T	ENST00000232766.5	+	4	557	c.537G>T	c.(535-537)ctG>ctT	p.L179L	KLHL18_ENST00000455924.2_Silent_p.L67L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	179	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCCTGGCCCTGCCCTTGGAAG	0.537000													29	35					2.61193e-14	3.54598e-14	0.144211	1	0
ZNF708	7562	broad.mit.edu	37	19	21476519	21476519	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:21476519T>C	ENST00000356929.3	-	4	1446	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TAGGGTTTCTTTCCAGTATGA	0.343000													4	55					0	0	0.150653	0	0
ANKH	56172	broad.mit.edu	37	5	14769166	14769166	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:14769166C>G	ENST00000284268.6	-	2	561	c.231G>C	c.(229-231)gtG>gtC	p.V77V		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	77					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCTTGCTGTTCACAAACACCA	0.577000													5	49					0	0	0.119110	0	0
SPP1	6696	broad.mit.edu	37	4	88902898	88902898	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:88902898T>C	ENST00000237623.7	+	5	594	c.446T>C	c.(445-447)gTg>gCg	p.V149A	SPP1_ENST00000395080.3_Missense_Mutation_p.V163A|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Missense_Mutation_p.V136A	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	163					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GGTGATAGTGTGGTTTATGGA	0.473000													16	86					0	0	0.043863	0	0
CDH7	1005	broad.mit.edu	37	18	63548025	63548025	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:63548025C>G	ENST00000397968.2	+	12	2679	c.2253C>G	c.(2251-2253)atC>atG	p.I751M	CDH7_ENST00000323011.3_Missense_Mutation_p.I751M	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	751					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAGATTCCATCAGCTCAAACT	0.473000													9	97					0	0	0.069234	0	0
ATP8A2	51761	broad.mit.edu	37	13	26402301	26402301	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:26402301G>C	ENST00000381655.2	+	28	2867	c.2725G>C	c.(2725-2727)Gaa>Caa	p.E909Q	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Intron	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	869					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GATTTTATTTGAACGTTGGTG	0.373000													23	55					0	0	0.125774	0	0
AP1B1	162	broad.mit.edu	37	22	29726681	29726681	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:29726681C>T	ENST00000357586.2	-	20	2728	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	AP1B1_ENST00000415447.1_Missense_Mutation_p.A841T|AP1B1_ENST00000432560.2_Missense_Mutation_p.A841T|AP1B1_ENST00000317368.7_Missense_Mutation_p.A821T|AP1B1_ENST00000402502.1_Missense_Mutation_p.A841T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A841T|AP1B1_ENST00000405198.1_Missense_Mutation_p.A848T	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	848					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCCATGTGGCCAGGAACATC	0.612000													10	24					0	0	0.093190	0	0
FAM179A	165186	broad.mit.edu	37	2	29274845	29274845	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:29274845G>C	ENST00000379558.4	+	20	3297	c.2946G>C	c.(2944-2946)acG>acC	p.T982T	FAM179A_ENST00000403861.2_Silent_p.T927T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	982							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCTCAAGACGCTCCAGGAAC	0.637000													4	16					0	0	0.150653	0	0
TRDN	10345	broad.mit.edu	37	6	123591004	123591004	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:123591004G>T	ENST00000334268.4	-	31	2045	c.1728C>A	c.(1726-1728)ccC>ccA	p.P576P	TRDN_ENST00000398178.3_Silent_p.P576P			Q13061	TRDN_HUMAN	triadin	576					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTGTTGGTTTGGGCTTGGCTG	0.323000													6	22					2.74318e-10	3.45879e-10	0.058154	1	0
ZNF335	63925	broad.mit.edu	37	20	44592118	44592118	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:44592118C>A	ENST00000322927.2	-	9	1627	c.1527G>T	c.(1525-1527)tcG>tcT	p.S509S	ZNF335_ENST00000426788.1_Silent_p.S354S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCACCTTGAGCGAGGACCAGC	0.627000													37	15					1.83081e-24	2.83165e-24	0.139131	1	0
AKAP6	9472	broad.mit.edu	37	14	33015208	33015208	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:33015208C>T	ENST00000280979.4	+	4	1519	c.1349C>T	c.(1348-1350)tCt>tTt	p.S450F	AKAP6_ENST00000557272.1_Missense_Mutation_p.S450F|AKAP6_ENST00000557354.1_Missense_Mutation_p.S450F	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	450					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AACAGCCCTTCTGCTGCCAGC	0.468000													40	211					0	0	0.139131	0	0
PKD1L2	114780	broad.mit.edu	37	16	81185474	81185474	+	RNA	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:81185474T>C	ENST00000533478.1	-	0	2506				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAAATACCACTTCCGGTCCAT	0.527000													4	35					0	0	0.150653	0	0
NCAN	1463	broad.mit.edu	37	19	19349079	19349079	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:19349079C>T	ENST00000252575.5	+	11	3311	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	NCAN_ENST00000538881.1_Missense_Mutation_p.R541C	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1090	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGGCTGTGACCGCGGCTGGCA	0.657000													64	90					0	0	0.139131	0	0
DDX10	1662	broad.mit.edu	37	11	108562632	108562632	+	Silent	SNP	G	G	A	rs144415130		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:108562632G>A	ENST00000526794.1	+	8	1037	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	DDX10_ENST00000322536.3_Silent_p.R335R			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	335	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGTTTTGCCGGCTACGTCCTG	0.453000			T	NUP98	AML*								48	32					0	0	0.139131	0	0
ATRNL1	26033	broad.mit.edu	37	10	117607386	117607386	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:117607386A>T	ENST00000355044.3	+	28	4029		c.e28-1		ATRNL1_ENST00000303745.7_Splice_Site|ATRNL1_ENST00000423111.2_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTCTTTTTCAGGGGGCACCC	0.433000													5	21					0	0	0.038147	0	0
SPON2	10417	broad.mit.edu	37	4	1161317	1161317	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:1161317C>T	ENST00000290902.5	-	6	1271	c.939G>A	c.(937-939)ggG>ggA	p.G313G	SPON2_ENST00000431380.1_Silent_p.G313G	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	313	TSP type-1.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GGCAGGGGCTCCCGTTGTTGG	0.687000											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	131					0	0	0.119110	0	0
CACNB2	783	broad.mit.edu	37	10	18803263	18803263	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:18803263C>T	ENST00000396576.2	+	6	1105	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	CACNB2_ENST00000282343.8_Missense_Mutation_p.H229Y|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.H257Y|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377329.4_Missense_Mutation_p.H203Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.H209Y	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	257					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AACGTCACCCCACTCCAAAGA	0.453000													15	42					0	0	0.160694	0	0
SSB	6741	broad.mit.edu	37	2	170657490	170657490	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:170657490A>T	ENST00000409333.1	+	2	267	c.20A>T	c.(19-21)aAt>aTt	p.N7I	SSB_ENST00000260956.4_Missense_Mutation_p.N7I			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	7	HTH La-type RNA-binding.				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AATGGTGATAATGAAAAGATG	0.328000													28	76					0	0	0.074837	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954896	12954896	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:12954896C>T	ENST00000235347.4	-	3	466	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	129										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCTTACTCATGGCCTCTG	0.522000													5	110					0	0	0.021553	0	0
GNAO1	2775	broad.mit.edu	37	16	56226490	56226490	+	Silent	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:56226490T>A	ENST00000262494.7	+	2	383	c.123T>A	c.(121-123)gcT>gcA	p.A41A	GNAO1_ENST00000569295.1_3'UTR|GNAO1_ENST00000262493.6_Silent_p.A41A	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	41					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CAACAGGGGCTGGAGAATCAG	0.478000													21	134					0	0	0.116897	0	0
OR10C1	442194	broad.mit.edu	37	6	29408157	29408157	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:29408157A>G	ENST00000444197.2	+	1	1075	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TATGACCGCTATGCAGCCATC	0.627000													12	40					0	0	0.119110	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834850	178834850	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:178834850C>A	ENST00000234816.2	-	3	509	c.62G>T	c.(61-63)tGc>tTc	p.C21F	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.C21F|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	21						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCCACCTCTGCAATGTCCAGT	0.383000													11	97					1.61879e-10	2.04851e-10	0.093190	1	0
ABCA4	24	broad.mit.edu	37	1	94512642	94512642	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:94512642G>T	ENST00000370225.3	-	19	2837	c.2751C>A	c.(2749-2751)ttC>ttA	p.F917L	ABCA4_ENST00000535735.1_Missense_Mutation_p.F843L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	917					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACGTTCAAAGAAGGAGTCTT	0.488000													29	66					3.90053e-15	5.37223e-15	0.163468	1	0
TMEM71	137835	broad.mit.edu	37	8	133734362	133734362	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:133734362C>T	ENST00000356838.3	-	7	762		c.e7-1		TMEM71_ENST00000377901.4_Splice_Site|TMEM71_ENST00000523829.1_Splice_Site	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71							integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AACCTGGTTTCTAATAGGAAG	0.353000													20	53					0	0	0.083992	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075454	76075454	+	RNA	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:76075454C>A	ENST00000395215.3	+	0	1094																											GGGTGAGAGGCTGCGAAAGCA	0.602000													20	183					1.64293e-13	2.21319e-13	0.083992	1	0
GIGYF2	26058	broad.mit.edu	37	2	233655812	233655812	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:233655812A>G	ENST00000373566.3	+	12	1288	c.1091A>G	c.(1090-1092)aAt>aGt	p.N364S	GIGYF2_ENST00000409547.1_Missense_Mutation_p.N342S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.N364S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.N173S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.N364S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.N336S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N342S			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	342					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGTAGCCATAATGAAGAGGCC	0.468000													13	20					0	0	0.132662	0	0
RSRC1	51319	broad.mit.edu	37	3	158072675	158072675	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:158072675A>G	ENST00000464171.1	+	5	512	c.387A>G	c.(385-387)ctA>ctG	p.L129L	RSRC1_ENST00000475278.2_Silent_p.L187L|RSRC1_ENST00000295930.3_Silent_p.L187L|RSRC1_ENST00000312179.6_Silent_p.L129L|RSRC1_ENST00000480820.1_Silent_p.L187L	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	187	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAGCCAGACTACAGCTGGTTC	0.363000													7	10					0	0	0.069234	0	0
CPS1	1373	broad.mit.edu	37	2	211454856	211454856	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:211454856C>T	ENST00000233072.5	+	8	934	c.738C>T	c.(736-738)ccC>ccT	p.P246P	CPS1_ENST00000430249.2_Silent_p.P252P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	246	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ACTTAGTTCCCTGGAACCATG	0.423000													42	172					0	0	0.139131	0	0
R3HDML	140902	broad.mit.edu	37	20	42969876	42969876	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:42969876C>A	ENST00000217043.2	+	2	474	c.302C>A	c.(301-303)gCc>gAc	p.A101D		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	101						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAAGCCTGGGCCACCCAGTGC	0.592000													28	32					2.81731e-10	3.53094e-10	0.153744	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	163505	163505	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:163505C>T	ENST00000283426.6	+	11	2300	c.2250C>T	c.(2248-2250)gtC>gtT	p.V750V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	750					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ATACTAGTGTCTTCAGCAAGG	0.567000													74	86					0	0	0.139131	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651358	78651358	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:78651358C>T	ENST00000286627.5	-	25	4045	c.3093G>A	c.(3091-3093)ccG>ccA	p.P1031P	KCNMA1_ENST00000372443.1_Silent_p.P1058P|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Silent_p.P1092P|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000406533.3_Silent_p.P1093P|KCNMA1_ENST00000404771.3_Silent_p.P1089P|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.P1089P|KCNMA1_ENST00000404857.1_Silent_p.P1072P|KCNMA1_ENST00000372440.1_Silent_p.P1031P	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1089					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCAGTGTCTGCGGGGTGCTGT	0.632000													7	33					0	0	0.038147	0	0
ASTN1	460	broad.mit.edu	37	1	176905466	176905466	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:176905466C>A	ENST00000367654.2	-	15	2455	c.2442G>T	c.(2440-2442)ctG>ctT	p.L814L	ASTN1_ENST00000361833.2_Silent_p.L806L|ASTN1_ENST00000367657.3_Silent_p.L806L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.L806L			O14525	ASTN1_HUMAN	astrotactin 1	814					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGTGCTGCAGCACAGGGT	0.498000													32	61					7.61001e-30	1.20377e-29	0.080422	1	0
ABCA3	21	broad.mit.edu	37	16	2369608	2369608	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:2369608C>G	ENST00000301732.5	-	8	1547	c.847G>C	c.(847-849)Gtg>Ctg	p.V283L	ABCA3_ENST00000382381.3_Missense_Mutation_p.V283L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	283					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TTCTCCTGCACGACAGCACGG	0.612000													10	99					0	0	0.080935	0	0
HGD	3081	broad.mit.edu	37	3	120393758	120393758	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:120393758T>C	ENST00000283871.5	-	3	625	c.166A>G	c.(166-168)Aat>Gat	p.N56D	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	56					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTTCTCTTATTGGTGCTCCGT	0.498000													8	193					0	0	0.058154	0	0
DOCK10	55619	broad.mit.edu	37	2	225635044	225635044	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:225635044G>T	ENST00000409592.3	-	55	6423	c.6310C>A	c.(6310-6312)Cag>Aag	p.Q2104K	DOCK10_ENST00000258390.7_Missense_Mutation_p.Q2110K			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2110	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCAAGGGCCTGCCCACATGCA	0.507000													8	12					1.08611e-07	1.27404e-07	0.080935	1	0
TMEM39B	55116	broad.mit.edu	37	1	32560511	32560511	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:32560511G>T	ENST00000427288.1	+	8	1189	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.A153S|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000336294.5_Missense_Mutation_p.A352S			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	352						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAAGGCCGCCGCCCATCTGGG	0.622000													4	50					0.00909568	0.00942988	0.150653	1	0
DNAH5	1767	broad.mit.edu	37	5	13901490	13901490	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:13901490C>A	ENST00000265104.4	-	14	2027	c.1923G>T	c.(1921-1923)atG>atT	p.M641I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	641	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAAAGCTGCATGGGCTGCT	0.537000									Kartagener syndrome				13	31					1.49906e-05	1.66846e-05	0.119110	1	0
DNAH3	55567	broad.mit.edu	37	16	21080738	21080738	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:21080738C>T	ENST00000261383.3	-	23	3378	c.3379G>A	c.(3379-3381)Gcg>Acg	p.A1127T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1127T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1127	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAACTTACCGCTTGGGACATA	0.393000													35	54					0	0	0.131918	0	0
SEC31A	22872	broad.mit.edu	37	4	83748590	83748590	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:83748590T>C	ENST00000432794.1	-	25	3425	c.3262A>G	c.(3262-3264)Atg>Gtg	p.M1088V	SEC31A_ENST00000443462.2_Missense_Mutation_p.M1055V|SEC31A_ENST00000395310.2_Missense_Mutation_p.M1075V|SEC31A_ENST00000264405.5_Missense_Mutation_p.M824V|SEC31A_ENST00000355196.2_Missense_Mutation_p.M1075V|SEC31A_ENST00000326950.5_Missense_Mutation_p.M1036V|SEC31A_ENST00000505984.1_Missense_Mutation_p.M1021V|SEC31A_ENST00000348405.4_Missense_Mutation_p.M1036V|SEC31A_ENST00000311785.7_Missense_Mutation_p.M961V|SEC31A_ENST00000508502.1_Missense_Mutation_p.M1060V|SEC31A_ENST00000448323.1_Missense_Mutation_p.M1075V|SEC31A_ENST00000505472.1_Missense_Mutation_p.M1106V|SEC31A_ENST00000513858.1_Missense_Mutation_p.M922V|SEC31A_ENST00000500777.2_Missense_Mutation_p.M922V|SEC31A_ENST00000509142.1_Missense_Mutation_p.M961V			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1075	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GATGGTGGCATGCCTGTTTGA	0.498000													92	29					0	0	0.139131	0	0
GPR89A	653519	broad.mit.edu	37	1	145826927	145826927	+	Translation_Start_Site	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:145826927C>G	ENST00000313835.9	-	1	146	c.3G>C	c.(1-3)atG>atC	p.M1I	GPR89A_ENST00000534502.1_5'UTR|GPR89A_ENST00000454423.3_5'UTR			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	1					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGAGGAAACTCATGGCGAAGT	0.642000													8	57					0	0	0.080935	0	0
BTN1A1	696	broad.mit.edu	37	6	26502076	26502076	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:26502076G>A	ENST00000244513.6	+	2	404	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	113	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGGATCCGTGGCGTCAGAGTC	0.647000													15	55					0	0	0.175082	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458623	90458623	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:90458623C>A	ENST00000603238.1	+	2	299	c.299C>A	c.(298-300)cCt>cAt	p.100_100insH																								AGCCTGCAGCCTGAAGATTTT	0.498000													39	952					2.24893e-16	3.16427e-16	0.111260	1	0
TRPC4	7223	broad.mit.edu	37	13	38320089	38320089	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:38320089C>A	ENST00000379705.3	-	3	1739	c.882G>T	c.(880-882)aaG>aaT	p.K294N	TRPC4_ENST00000358477.2_Missense_Mutation_p.K294N|TRPC4_ENST00000355779.2_Missense_Mutation_p.K294N|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.K294N|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.K294N|TRPC4_ENST00000379673.2_Missense_Mutation_p.K294N|TRPC4_ENST00000379681.3_Missense_Mutation_p.K294N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	294	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGACGGTACTTAATGGCCA	0.373000													47	178					1.82294e-38	2.99237e-38	0.139131	1	0
F13A1	2162	broad.mit.edu	37	6	6251148	6251148	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:6251148G>T	ENST00000264870.3	-	5	851	c.586C>A	c.(586-588)Ctg>Atg	p.L196M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	196					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCATTGTCCAGATACACAGCA	0.388000													39	168					3.54909e-21	5.33898e-21	0.124865	1	0
ATP6V1F	9296	broad.mit.edu	37	7	128505563	128505563	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:128505563A>T	ENST00000492758.1	+	3	376	c.375A>T	c.(373-375)ccA>ccT	p.P125P	ATP6V1F_ENST00000249289.4_Silent_p.P97P	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	97					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						AGGAGCACCCATATGACGCCG	0.632000													19	12					0	0	0.076483	0	0
FBXO18	84893	broad.mit.edu	37	10	5969492	5969492	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:5969492G>A	ENST00000379999.5	+	20	3074	c.2970G>A	c.(2968-2970)ttG>ttA	p.L990L	FBXO18_ENST00000397269.3_Silent_p.L443L|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000362091.4_Silent_p.L939L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	939					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAAACATTTTGACTTTGGCTG	0.448000													15	59					0	0	0.069288	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913201	143913201	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:143913201G>T	ENST00000409869.1	+	3	319	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.D48Y			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	48					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCCTCACCGATGTCGGGAA	0.423000													22	59					2.27525e-19	3.34558e-19	0.091800	1	0
CRTAP	10491	broad.mit.edu	37	3	33174160	33174160	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:33174160G>T	ENST00000320954.6	+	5	1135	c.1036G>T	c.(1036-1038)Ggc>Tgc	p.G346C	CRTAP_ENST00000449224.1_Missense_Mutation_p.G303C	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	346						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GGACACTTGGGGCCTCTCGGA	0.527000													22	83					1.1804e-14	1.613e-14	0.091800	1	0
NAGPA	51172	broad.mit.edu	37	16	5078018	5078018	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:5078018G>A	ENST00000312251.3	-	6	1108	c.1089C>T	c.(1087-1089)ggC>ggT	p.G363G	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Silent_p.G363G	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	363	EGF-like.				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	AGTTAGAGGGGCCACAGTCCA	0.692000													8	79					0	0	0.069234	0	0
RNF220	55182	broad.mit.edu	37	1	44878028	44878028	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:44878028G>T	ENST00000355387.2	+	2	709	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	RNF220_ENST00000372247.2_Missense_Mutation_p.D87Y|RNF220_ENST00000361799.2_Missense_Mutation_p.D87Y			Q5VTB9	RN220_HUMAN	ring finger protein 220	87					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TGCCAATCGTGATTTCCCCCC	0.498000													81	331					1.30168e-36	2.12669e-36	0.139131	1	0
ACE2	59272	broad.mit.edu	37	X	15599456	15599456	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:15599456G>A	ENST00000427411.1	-	9	1174	c.958C>T	c.(958-960)Ctt>Ttt	p.L320F	ACE2_ENST00000252519.3_Missense_Mutation_p.L320F	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	320					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ATATTAGGAAGACCAACAGAT	0.458000													28	97					0	0	0.163468	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501695	140501695	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:140501695G>C	ENST00000194152.1	+	1	115	c.115G>C	c.(115-117)Gag>Cag	p.E39Q		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		39	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGAAACAGAGAGCGGCTC	0.532000													11	47					0	0	0.105934	0	0
CDKL4	344387	broad.mit.edu	37	2	39431680	39431680	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:39431680C>G	ENST00000378803.1	-	4	441	c.442G>C	c.(442-444)Gca>Cca	p.A148P	CDKL4_ENST00000395035.3_Missense_Mutation_p.A148P	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	148	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AGAATTTGTGCAAACCCGAAG	0.284000													11	66					0	0	0.119110	0	0
ASTN2	23245	broad.mit.edu	37	9	119203026	119203026	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:119203026C>G	ENST00000313400.4	-	22	3744	c.3644G>C	c.(3643-3645)gGa>gCa	p.G1215A	ASTN2_ENST00000373996.3_Missense_Mutation_p.G1211A|ASTN2_ENST00000341734.4_Missense_Mutation_p.G267A|ASTN2_ENST00000288520.5_Missense_Mutation_p.G316A|ASTN2_ENST00000361477.3_Missense_Mutation_p.G267A|ASTN2_ENST00000361209.2_Missense_Mutation_p.G1164A			O75129	ASTN2_HUMAN	astrotactin 2	1215						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGCTCCTTTCCACTTGTGTA	0.473000													8	91					0	0	0.069234	0	0
RGAG4	340526	broad.mit.edu	37	X	71351063	71351063	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:71351063C>A	ENST00000545866.1	-	1	695	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	RGAG4_ENST00000479991.1_Missense_Mutation_p.D110Y|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	110										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTGCTGCGATCCTGGATCACG	0.687000													9	8					1.58986e-06	1.81798e-06	0.069234	1	0
PHF23	79142	broad.mit.edu	37	17	7139465	7139465	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7139465C>T	ENST00000320316.3	-	4	1007	c.781G>A	c.(781-783)Gag>Aag	p.E261K	PHF23_ENST00000576955.1_Missense_Mutation_p.E131K|PHF23_ENST00000454255.2_Missense_Mutation_p.E257K|PHF23_ENST00000571362.1_Missense_Mutation_p.E194K	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	261	Poly-Glu.						zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GTTGCCATCtcttcttcttct	0.622000													14	64					0	0	0.119110	0	0
DDX60	55601	broad.mit.edu	37	4	169146827	169146827	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:169146827C>A	ENST00000393743.3	-	34	4825	c.4533_splice	c.e34-1	p.V1512_splice		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1512							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCAAGGAACACCTAGAAGCCG	0.333000													30	15					3.3946e-10	4.24935e-10	0.080422	1	0
CTSE	1510	broad.mit.edu	37	1	206317609	206317609	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:206317609C>T	ENST00000361052.3	+	1	151	c.33C>T	c.(31-33)ctC>ctT	p.L11L	CTSE_ENST00000432969.2_5'UTR|CTSE_ENST00000360218.2_Silent_p.L11L|CTSE_ENST00000358184.2_Silent_p.L11L			P14091	CATE_HUMAN	cathepsin E	11					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGCTGGTGCTCCTGGAGCTGG	0.602000													17	55					0	0	0.043863	0	0
HAND2	9464	broad.mit.edu	37	4	174449985	174449985	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:174449985C>A	ENST00000359562.4	-	1	1395	c.456G>T	c.(454-456)atG>atT	p.M152I	HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	152	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCAGCAGGTCCATGAGGTAGG	0.592000													33	71					1.07637e-12	1.42064e-12	0.074837	1	0
FLVCR2	55640	broad.mit.edu	37	14	76107373	76107373	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:76107373C>A	ENST00000238667.4	+	7	1667	c.1311C>A	c.(1309-1311)atC>atA	p.I437I	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.I152I|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.I232I	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	437					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGAAGGCATCTCCTCCGGCC	0.502000													17	52					1.36565e-18	1.98294e-18	0.076483	1	0
RGS2	5997	broad.mit.edu	37	1	192780233	192780233	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:192780233A>G	ENST00000235382.5	+	4	428	c.397A>G	c.(397-399)Agg>Ggg	p.R133G		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	133	RGS.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						CTCAAAAGCAAGGAAAATATA	0.363000													30	79					0	0	0.074837	0	0
NBPF1	55672	broad.mit.edu	37	1	16902836	16902836	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:16902836T>A	ENST00000430580.2	-	19	2932	c.2045A>T	c.(2044-2046)cAg>cTg	p.Q682L	NBPF1_ENST00000432949.1_Missense_Mutation_p.Q140L|NBPF1_ENST00000287968.8_Missense_Mutation_p.Q47L	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	682						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTCCTGCCCCTGGGACTTGTC	0.577000													31	1187					0	0	0.083992	0	0
NTN5	126147	broad.mit.edu	37	19	49167497	49167497	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:49167497A>G	ENST00000270235.4	-	4	968	c.873T>C	c.(871-873)agT>agC	p.S291S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	291	Laminin EGF-like 3.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TGCACTGCCCACTGGTCTGGT	0.642000													3	19					0	0	0.115264	0	0
ATP2B2	491	broad.mit.edu	37	3	10400455	10400455	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:10400455C>A	ENST00000397077.1	-	13	2496	c.1921G>T	c.(1921-1923)Gac>Tac	p.D641Y	ATP2B2_ENST00000383800.4_Missense_Mutation_p.D641Y|ATP2B2_ENST00000360273.2_Missense_Mutation_p.D686Y|ATP2B2_ENST00000352432.4_Missense_Mutation_p.D686Y|ATP2B2_ENST00000343816.4_Missense_Mutation_p.D672Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	686					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTGTCCCAGTCCGGCTCCGGG	0.632000													17	53					5.45024e-15	7.49677e-15	0.083992	1	0
HGS	9146	broad.mit.edu	37	17	79662894	79662894	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:79662894G>A	ENST00000329138.4	+	15	1393	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	420	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CACCACCTTCGTGAACCGCAT	0.602000													16	54					0	0	0.146539	0	0
PRDX1	5052	broad.mit.edu	37	1	45977049	45977049	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:45977049G>C	ENST00000262746.1	-	6	891	c.552C>G	c.(550-552)atC>atG	p.I184M	PRDX1_ENST00000319248.8_Missense_Mutation_p.I184M|PRDX1_ENST00000372079.1_Missense_Mutation_p.I82M	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	184					cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CATCAGGCTTGATGGTATCAC	0.488000													57	218					0	0	0.139131	0	0
TMEM244	253582	broad.mit.edu	37	6	130166922	130166922	+	Missense_Mutation	SNP	C	C	T	rs143949103	by1000genomes	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:130166922C>T	ENST00000438392.1	-	3	289	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	TMEM244_ENST00000368143.1_Missense_Mutation_p.V37M			Q5VVB8	CF191_HUMAN	transmembrane protein 244	37						integral to membrane		p.V37M(1)									TCAAACATCACGCAGCCCATG	0.358000													27	40					0	0	0.064281	0	0
TRAK1	22906	broad.mit.edu	37	3	42133018	42133018	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:42133018C>G	ENST00000327628.5	+	1	457	c.57C>G	c.(55-57)ctC>ctG	p.L19L	TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	19					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCCAGGACTCTGCCACGGCA	0.517000													6	33					0	0	0.038147	0	0
SNRNP70	6625	broad.mit.edu	37	19	49601690	49601690	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:49601690C>G	ENST00000221448.5	+	5	468	c.272C>G	c.(271-273)cCt>cGt	p.P91R	SNRNP70_ENST00000598441.1_Missense_Mutation_p.P91R	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	91					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						ACAGGGGACCCTCACAATGAT	0.517000											OREG0025616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	170					0	0	0.163468	0	0
NOL6	65083	broad.mit.edu	37	9	33465774	33465774	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:33465774C>G	ENST00000379471.2	-	19	2573	c.2486G>C	c.(2485-2487)aGa>aCa	p.R829T	NOL6_ENST00000455041.2_Missense_Mutation_p.R777T|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	829					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCTTGTGTCTCTCTCAAGGCG	0.632000													3	29					0	0	0.150653	0	0
MYCN	4613	broad.mit.edu	37	2	16086175	16086175	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:16086175C>G	ENST00000281043.3	+	3	1648	c.1351C>G	c.(1351-1353)Cag>Gag	p.Q451E		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	451	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCAGGCAAGACAGCAGCAGTT	0.458000			A		neuroblastoma								26	159					0	0	0.153744	0	0
DDX60	55601	broad.mit.edu	37	4	169146828	169146828	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:169146828C>T	ENST00000393743.3	-	34	4825		c.e34-1			NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAAGGAACACCTAGAAGCCGA	0.333000													30	15					0	0	0.080422	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458346	120458346	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:120458346C>A	ENST00000256646.2	-	34	7218	c.6999G>T	c.(6997-6999)gcG>gcT	p.A2333A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2333					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.A2333A(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGGGGCCCGCAACAGCTG	0.627000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				45	71					2.56175e-15	3.53765e-15	0.139131	1	0
ITGAD	3681	broad.mit.edu	37	16	31434720	31434720	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:31434720G>T	ENST00000389202.2	+	25	2956	c.2907G>T	c.(2905-2907)tgG>tgT	p.W969C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	969					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTAACTTCTGGGTTCCTGTCC	0.537000													41	74					3.16986e-14	4.29784e-14	0.139131	1	0
PSMD3	5709	broad.mit.edu	37	17	38140601	38140601	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:38140601G>A	ENST00000264639.4	+	2	449	c.275G>A	c.(274-276)aGa>aAa	p.R92K	PSMD3_ENST00000541736.1_Intron	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	92					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AAGGAGCCGAGATTCGTGCTG	0.502000													9	60					0	0	0.069234	0	0
SEPN1	57190	broad.mit.edu	37	1	26139212	26139212	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:26139212G>A	ENST00000361547.2	+	10	1371	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	SEPN1_ENST00000374315.1_Missense_Mutation_p.R405Q|SEPN1_ENST00000354177.4_Missense_Mutation_p.R405Q	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	439						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTCGACCGAGCCAAGGCT	0.632000													8	33					0	0	0.080935	0	0
CUX2	23316	broad.mit.edu	37	12	111749936	111749936	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:111749936A>G	ENST00000261726.6	+	16	2087	c.1933A>G	c.(1933-1935)Aca>Gca	p.T645A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	645						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CACGCCTGAGACAGGCTCAGA	0.612000													6	23					0	0	0.058154	0	0
STAB2	55576	broad.mit.edu	37	12	104152923	104152923	+	Silent	SNP	C	C	A	rs112523896		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:104152923C>A	ENST00000388887.2	+	65	7324	c.7120C>A	c.(7120-7122)Cgg>Agg	p.R2374R	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2374	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTTGTCTGGGCGGGACATCGA	0.463000													98	60					5.41809e-49	9.06488e-49	0.139131	1	0
DPPA2	151871	broad.mit.edu	37	3	109028078	109028078	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:109028078T>A	ENST00000478945.1	-	4	527	c.281A>T	c.(280-282)aAg>aTg	p.K94M		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	94	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGACACACCTTATTAATGGG	0.448000													115	158					0	0	0.139131	0	0
CMYA5	202333	broad.mit.edu	37	5	79030362	79030362	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:79030362G>T	ENST00000446378.2	+	2	5805	c.5774G>T	c.(5773-5775)aGg>aTg	p.R1925M		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1925						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGAGCTGAGGCCAGGGCAG	0.493000													10	11					1.5739e-10	1.99896e-10	0.146539	1	0
LAMB1	3912	broad.mit.edu	37	7	107642018	107642018	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:107642018G>T	ENST00000393561.1	-	1	454	c.270C>A	c.(268-270)atC>atA	p.I90I	LAMB1_ENST00000222399.6_Silent_p.I66I|LAMB1_ENST00000393560.1_Silent_p.I66I			P07942	LAMB1_HUMAN	laminin, beta 1	66	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGGCTGACGATACAGTAGG	0.657000													4	11					0.0215528	0.0220815	0.021553	1	0
MED12	9968	broad.mit.edu	37	X	70347744	70347744	+	Splice_Site	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:70347744G>A	ENST00000333646.6	+	22	3182	c.2981_splice	c.e22-1	p.D995_splice	MED12_ENST00000374102.1_Splice_Site_p.D995_splice|MED12_ENST00000374080.3_Splice_Site_p.D995_splice	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	995					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCCTGCAGCGACTTTTGCTC	0.483000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						13	18					0	0	0.146539	0	0
RASAL2	9462	broad.mit.edu	37	1	178414696	178414696	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:178414696G>T	ENST00000448150.3	+	9	2290	c.1472G>T	c.(1471-1473)gGa>gTa	p.G491V	RASAL2_ENST00000462775.1_Missense_Mutation_p.G361V|RASAL2_ENST00000367649.3_Missense_Mutation_p.G509V	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	361	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GATCGTTGTGGAGAGCATGAT	0.413000													44	109					1.83081e-24	2.83165e-24	0.139131	1	0
SLC7A4	6545	broad.mit.edu	37	22	21385387	21385387	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:21385387C>A	ENST00000382932.2	-	2	782	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	SLC7A4_ENST00000403586.1_Missense_Mutation_p.A239S	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	239					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCAGTGCCGGCCATGACGCCG	0.617000													8	16					0.000274275	0.000296422	0.047766	1	0
ATP2B2	491	broad.mit.edu	37	3	10401723	10401723	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:10401723G>T	ENST00000397077.1	-	12	2184	c.1609C>A	c.(1609-1611)Cag>Aag	p.Q537K	ATP2B2_ENST00000383800.4_Missense_Mutation_p.Q537K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.Q582K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.Q582K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.Q568K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	582					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCGTAGTCCTGCTTCAGGTCC	0.607000													33	37					5.71845e-15	7.85535e-15	0.080422	1	0
TRIM31	11074	broad.mit.edu	37	6	30071355	30071355	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:30071355C>T	ENST00000376734.3	-	9	1361	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	TRIM31_ENST00000540829.1_Silent_p.L412L	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	412						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GGATCGCTGTCAGCCACTCAC	0.552000													15	101					0	0	0.175082	0	0
ACRC	93953	broad.mit.edu	37	X	70824337	70824337	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:70824337G>C	ENST00000373695.1	+	7	1747	c.1210G>C	c.(1210-1212)Gca>Cca	p.A404P	ACRC_ENST00000373696.3_Missense_Mutation_p.A404P			Q96QF7	ACRC_HUMAN	acidic repeat containing	404						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGAGCCTGCACCTGTGGT	0.478000													4	5					0	0	0.021553	0	0
HOXB9	3219	broad.mit.edu	37	17	46700309	46700309	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:46700309G>T	ENST00000311177.5	-	2	913	c.706C>A	c.(706-708)Cgg>Agg	p.R236R	HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_3'UTR	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	236					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R236W(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TTCATCCGCCGGTTCTGAAAC	0.463000													11	74					1.61879e-10	2.04851e-10	0.093190	1	0
NXN	64359	broad.mit.edu	37	17	725687	725687	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:725687C>A	ENST00000336868.3	-	4	714	c.623G>T	c.(622-624)tGc>tTc	p.C208F	NXN_ENST00000575801.1_Missense_Mutation_p.C100F|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	208	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GAGGCTTCGGCAGGGCGGACA	0.592000													70	8					9.25274e-37	1.51408e-36	0.139131	1	0
SEMA3E	9723	broad.mit.edu	37	7	83022004	83022004	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:83022004C>A	ENST00000307792.3	-	14	2001	c.1534G>T	c.(1534-1536)Gct>Tct	p.A512S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A452S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	512	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTGACTTGAGCCACAGCAGAA	0.473000													41	23					8.86878e-18	1.27184e-17	0.139131	1	0
SPACA4	171169	broad.mit.edu	37	19	49110431	49110431	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:49110431C>A	ENST00000321762.1	+	1	432	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	66	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CAAAGGCTGCCTGCGAGCCAC	0.642000													4	43					2.56e-06	2.90504e-06	0.150653	1	0
P2RY8	286530	broad.mit.edu	37	X	1584597	1584597	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:1584597G>T	ENST00000381297.4	-	2	1065	c.855C>A	c.(853-855)aaC>aaA	p.N285K		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	285						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGACAGTTGTTGAGGCAGC	0.582000			T	CRLF2	"""B-ALL, Downs associated ALL"""								37	51					1.48734e-19	2.1901e-19	0.131918	1	0
SYT2	127833	broad.mit.edu	37	1	202571541	202571541	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:202571541G>T	ENST00000367267.1	-	5	790	c.598C>A	c.(598-600)Ctg>Atg	p.L200M	SYT2_ENST00000367268.4_Missense_Mutation_p.L200M	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	200	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GCAGGGTTCAGTGTCTTCCGA	0.522000													52	114					3.21867e-24	4.97085e-24	0.139131	1	0
POU2F2	5452	broad.mit.edu	37	19	42599776	42599776	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:42599776C>A	ENST00000389341.5	-	10	893	c.827G>T	c.(826-828)gGc>gTc	p.G276V	POU2F2_ENST00000526816.2_Missense_Mutation_p.G292V|POU2F2_ENST00000342301.4_Missense_Mutation_p.G292V|POU2F2_ENST00000560398.1_Missense_Mutation_p.G298V|POU2F2_ENST00000533720.1_Missense_Mutation_p.G276V|POU2F2_ENST00000560558.1_Missense_Mutation_p.G237V|POU2F2_ENST00000529952.1_Missense_Mutation_p.G292V|POU2F2_ENST00000529067.1_Missense_Mutation_p.G276V	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	292					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCCGGGCAGGCCGTCGAAACC	0.627000													28	19					4.31865e-32	6.87297e-32	0.074837	1	0
GORASP2	26003	broad.mit.edu	37	2	171812965	171812965	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:171812965A>T	ENST00000234160.4	+	7	1534	c.719A>T	c.(718-720)aAt>aTt	p.N240I	GORASP2_ENST00000493692.1_Intron|GORASP2_ENST00000452526.2_Missense_Mutation_p.N252I	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	240						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCCTCAGTTAATCCCCCGTCT	0.388000													9	73					0	0	0.069234	0	0
CLPX	10845	broad.mit.edu	37	15	65450964	65450964	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:65450964C>A	ENST00000300107.3	-	7	1029	c.841G>T	c.(841-843)Gac>Tac	p.D281Y		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	281					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGTTTTATGTCATCATGAGAA	0.353000													17	117					2.4624e-09	3.02085e-09	0.049695	1	0
AMER3	205147	broad.mit.edu	37	2	131521517	131521517	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:131521517A>T	ENST00000423981.1	+	2	1982	c.1872A>T	c.(1870-1872)acA>acT	p.T624T	AMER3_ENST00000321420.4_Silent_p.T624T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CTTCGACAACAGATACTTCCG	0.582000													17	35					0	0	0.055883	0	0
TENM1	10178	broad.mit.edu	37	X	123556172	123556172	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:123556172G>T	ENST00000422452.2	-	24	4484	c.4421C>A	c.(4420-4422)gCc>gAc	p.A1474D	TENM1_ENST00000371130.3_Missense_Mutation_p.A1467D|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTCAGTGGGGGCACCAGCGAT	0.468000													55	41					4.09171e-25	6.34731e-25	0.139131	1	0
DIP2A	23181	broad.mit.edu	37	21	47987424	47987424	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr21:47987424G>T	ENST00000318711.7	+	38	4791	c.4608G>T	c.(4606-4608)gtG>gtT	p.V1536V	DIP2A_ENST00000400274.1_Silent_p.V1531V|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Silent_p.V1535V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1535					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGGTCATCGTGGACCCAGGGG	0.632000													15	18					1.3612e-06	1.56336e-06	0.132662	1	0
CA10	56934	broad.mit.edu	37	17	50235144	50235144	+	Translation_Start_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:50235144C>T	ENST00000451037.2	-	1	943	c.3G>A	c.(1-3)atG>atA	p.M1I	CA10_ENST00000570565.1_Intron|CA10_ENST00000442502.2_Start_Codon_SNP_p.M1I|CA10_ENST00000285273.4_Start_Codon_SNP_p.M1I|CA10_ENST00000340813.6_5'UTR	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	1					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AGACTATTTCCATCCTCTGAT	0.517000													21	105					0	0	0.076483	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162225	90162225	+	RNA	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:90162225C>A	ENST00000567960.1	+	0	961				TUBB8P7_ENST00000564451.1_RNA																							TCAGGGGTCGCATGCCCATGA	0.522000													37	90					6.48837e-15	8.88957e-15	0.117977	1	0
ODAM	54959	broad.mit.edu	37	4	71063851	71063851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:71063851C>T	ENST00000396094.2	+	4	400	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	118	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						AACACCGCCTCAGACACAACC	0.488000													18	126					0	0	0.043863	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692505	153692505	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:153692505C>T	ENST00000369682.3	+	8	1852	c.1677C>T	c.(1675-1677)acC>acT	p.T559T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	559					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCAGCTGACCGTCACCCTGC	0.697000													10	7					0	0	0.093190	0	0
PDZRN3	23024	broad.mit.edu	37	3	73440201	73440201	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:73440201C>G	ENST00000263666.4	-	6	1435	c.1321G>C	c.(1321-1323)Gat>Cat	p.D441H	PDZRN3_ENST00000462146.2_Missense_Mutation_p.D98H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D98H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D163H|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D158H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	441	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGTCTTCATCGTCCGTCCGG	0.438000													31	158					0	0	0.080422	0	0
ATAD2	29028	broad.mit.edu	37	8	124349935	124349935	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:124349935C>A	ENST00000287394.5	-	21	3088	c.2981G>T	c.(2980-2982)aGa>aTa	p.R994I	ATAD2_ENST00000521903.1_Missense_Mutation_p.R312I	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTAACATTTCTTAAGAAAAT	0.398000													13	37					0.000151284	0.000164865	0.105934	1	0
SFRP4	6424	broad.mit.edu	37	7	37956065	37956065	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:37956065C>T	ENST00000436072.2	-	1	452	c.75G>A	c.(73-75)gaG>gaA	p.E25E	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	25	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCGCACCGCCTCGCAGGGCG	0.687000													12	36					0	0	0.105934	0	0
PLCB2	5330	broad.mit.edu	37	15	40582792	40582792	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:40582792C>A	ENST00000260402.3	-	29	3444	c.3195G>T	c.(3193-3195)aaG>aaT	p.K1065N	PLCB2_ENST00000557821.1_Missense_Mutation_p.K1061N|PLCB2_ENST00000456256.2_Missense_Mutation_p.K1050N	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1065					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCTGGGCCATCTTGTCTGTGG	0.567000													126	94					1.51433e-70	2.57067e-70	0.139131	1	0
DDR2	4921	broad.mit.edu	37	1	162741853	162741853	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:162741853C>A	ENST00000367922.2	+	14	1982	c.1544C>A	c.(1543-1545)cCt>cAt	p.P515H	DDR2_ENST00000367921.3_Missense_Mutation_p.P515H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	515					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCCAGTGGCCCTGAGGGGGTG	0.587000													11	7					0.010729	0.0111012	0.080935	1	0
CSMD3	114788	broad.mit.edu	37	8	114031388	114031388	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:114031388G>C	ENST00000297405.5	-	6	1182	c.938C>G	c.(937-939)cCa>cGa	p.P313R	CSMD3_ENST00000455883.2_Missense_Mutation_p.P313R|CSMD3_ENST00000343508.3_Missense_Mutation_p.P273R|CSMD3_ENST00000352409.3_Missense_Mutation_p.P313R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	313	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTGGTGGTGGTATATTCAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	62					0	0	0.091800	0	0
GM2A	2760	broad.mit.edu	37	5	150632804	150632804	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:150632804C>T	ENST00000357164.3	+	1	352	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	9						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCTCCCCTCCTGATCGCCC	0.597000													12	67					0	0	0.132662	0	0
ADAM33	80332	broad.mit.edu	37	20	3653514	3653514	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:3653514T>C	ENST00000356518.2	-	12	1406	c.1165A>G	c.(1165-1167)Agc>Ggc	p.S389G	ADAM33_ENST00000379861.4_Missense_Mutation_p.S389G|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.S389G	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	389	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCGGCGGCTGCAGGCGCTG	0.726000													21	9					0	0	0.099896	0	0
GATA2	2624	broad.mit.edu	37	3	128204775	128204775	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:128204775C>T	ENST00000341105.2	-	3	997	c.666G>A	c.(664-666)aaG>aaA	p.K222K	GATA2_ENST00000487848.1_Silent_p.K222K|GATA2_ENST00000430265.2_Silent_p.K222K	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	222					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CACTTTCCATCTTCATGCTCT	0.642000			Mis		AML(CML blast transformation)								15	74					0	0	0.160694	0	0
OGDH	4967	broad.mit.edu	37	7	44747304	44747304	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:44747304C>T	ENST00000222673.5	+	22	2962	c.2920C>T	c.(2920-2922)Cgg>Tgg	p.R974W	OGDH_ENST00000543843.1_Missense_Mutation_p.R925W|OGDH_ENST00000439616.2_Missense_Mutation_p.R824W|OGDH_ENST00000447398.1_Missense_Mutation_p.R985W|OGDH_ENST00000444676.1_Missense_Mutation_p.R989W|OGDH_ENST00000449767.1_Missense_Mutation_p.R970W	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	974					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCCAAGACTTCGGACCACCAT	0.607000													9	69					0	0	0.058154	0	0
CNGA4	1262	broad.mit.edu	37	11	6260485	6260485	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:6260485C>A	ENST00000379936.2	+	1	164	c.49C>A	c.(49-51)Cca>Aca	p.P17T	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	17					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCCCAGCCCCATCCAAGGC	0.557000													15	39					9.16793e-09	1.10779e-08	0.160694	1	0
CACNB2	783	broad.mit.edu	37	10	18803262	18803262	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:18803262C>A	ENST00000396576.2	+	6	1104	c.603C>A	c.(601-603)ccC>ccA	p.P201P	CACNB2_ENST00000282343.8_Silent_p.P228P|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Silent_p.P256P|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377329.4_Silent_p.P202P|CACNB2_ENST00000377315.4_Silent_p.P208P	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	256					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TAACGTCACCCCACTCCAAAG	0.448000													15	41					3.41278e-10	4.267e-10	0.160694	1	0
CNOT1	23019	broad.mit.edu	37	16	58564242	58564242	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:58564242T>C	ENST00000317147.5	-	43	6519	c.6187A>G	c.(6187-6189)Atg>Gtg	p.M2063V	CNOT1_ENST00000569240.1_Missense_Mutation_p.M2058V|CNOT1_ENST00000245138.4_Missense_Mutation_p.M914V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2063					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGCATACATAGGCCACCCC	0.388000													11	60					0	0	0.080935	0	0
OPN4	94233	broad.mit.edu	37	10	88418396	88418396	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:88418396G>A	ENST00000372071.2	+	5	840	c.613G>A	c.(613-615)Gtt>Att	p.V205I	OPN4_ENST00000241891.5_Missense_Mutation_p.V194I	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	194					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCTGCTGGGCGTTTGGCTCTA	0.647000													4	91					0	0	0.021553	0	0
FBXO15	201456	broad.mit.edu	37	18	71796717	71796717	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:71796717T>C	ENST00000269500.5	-	5	815	c.480A>G	c.(478-480)ctA>ctG	p.L160L	FBXO15_ENST00000419743.2_Silent_p.L236L	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	160										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ACAATGATGCTAGGCATGGCC	0.378000													11	33					0	0	0.093190	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346636	92346636	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:92346636A>T	ENST00000276609.3	+	6	995	c.756A>T	c.(754-756)aaA>aaT	p.K252N	SLC26A7_ENST00000309536.2_Missense_Mutation_p.K252N|SLC26A7_ENST00000523719.1_Missense_Mutation_p.K252N	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	252						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AACAGTTTAAAAGGAAAATTA	0.353000													5	19					0	0	0.021553	0	0
HECW2	57520	broad.mit.edu	37	2	197143300	197143300	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:197143300C>A	ENST00000260983.2	-	15	3269	c.3087G>T	c.(3085-3087)ctG>ctT	p.L1029L	HECW2_ENST00000409111.1_Silent_p.L673L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1029	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCCGATGAACCAGCGCACTTG	0.532000													28	74					7.38237e-10	9.17523e-10	0.116897	1	0
CYLD	1540	broad.mit.edu	37	16	50813605	50813605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:50813605G>T	ENST00000540145.1	+	9	1583	c.1168G>T	c.(1168-1170)Gag>Tag	p.E390*	CYLD_ENST00000569418.1_Nonsense_Mutation_p.E387*|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Nonsense_Mutation_p.E387*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.E387*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.E387*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.E390*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.E390*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	390	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATCTCTTACAGAGATATCTAC	0.383000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				21	163					5.35356e-11	6.85781e-11	0.076483	1	0
ZNF341	84905	broad.mit.edu	37	20	32328721	32328721	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:32328721G>T	ENST00000375200.1	+	2	410	c.45G>T	c.(43-45)caG>caT	p.Q15H	ZNF341_ENST00000342427.2_Missense_Mutation_p.Q15H			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGGACAATCAGACCGTTCTGG	0.542000													10	86					0.000673444	0.000717424	0.069234	1	0
OR6C2	341416	broad.mit.edu	37	12	55846495	55846495	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:55846495C>G	ENST00000322678.1	+	1	498	c.498C>G	c.(496-498)ttC>ttG	p.F166L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGCTCGAATTCTGTGACTCCA	0.438000													21	234					0	0	0.083992	0	0
COL19A1	1310	broad.mit.edu	37	6	70646688	70646688	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:70646688G>T	ENST00000322773.4	+	8	861	c.759G>T	c.(757-759)caG>caT	p.Q253H		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	253					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCCAGAGCAGGATGGCTTTG	0.438000													21	76					9.86323e-18	1.41251e-17	0.091800	1	0
MTNR1B	4544	broad.mit.edu	37	11	92714731	92714731	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:92714731G>T	ENST00000257068.2	+	2	348	c.342G>T	c.(340-342)aaG>aaT	p.K114N		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	114					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGCACTGCAAGGCCAGCGCCT	0.592000													14	84					1.5739e-10	1.99896e-10	0.146539	1	0
SPAG17	200162	broad.mit.edu	37	1	118574335	118574335	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:118574335G>T	ENST00000336338.5	-	25	3654	c.3589C>A	c.(3589-3591)Cca>Aca	p.P1197T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1197						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTCTTTTGGGTGTTCTTCT	0.358000													10	32					2.80697e-09	3.41946e-09	0.080935	1	0
STAB2	55576	broad.mit.edu	37	12	104025458	104025458	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:104025458C>T	ENST00000388887.2	+	6	774	c.570C>T	c.(568-570)ccC>ccT	p.P190P		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	190	EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACACTGGCCCCAAGTGTGACA	0.483000													19	130					0	0	0.049695	0	0
SMARCE1	6605	broad.mit.edu	37	17	38785088	38785088	+	Silent	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:38785088T>G	ENST00000348513.6	-	11	1965	c.1185A>C	c.(1183-1185)acA>acC	p.T395T	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Silent_p.T377T|SMARCE1_ENST00000580419.1_Silent_p.T360T|SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000544009.1_Silent_p.T325T|SMARCE1_ENST00000377808.4_3'UTR|SMARCE1_ENST00000578044.1_Silent_p.T325T	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	395	Glu-rich.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				GCTCCTCCACTGTTGCACTGT	0.453000													53	81					0	0	0.139131	0	0
DUSP22	56940	broad.mit.edu	37	6	348818	348818	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:348818C>A	ENST00000604971.1	+	4	1289	c.176C>A	c.(175-177)gCa>gAa	p.A59E	DUSP22_ENST00000605315.1_Missense_Mutation_p.A59E|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000603453.1_Missense_Mutation_p.A59E|DUSP22_ENST00000419235.2_Missense_Mutation_p.A162E|DUSP22_ENST00000344450.5_Missense_Mutation_p.A162E			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	162					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A162V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TTGCAGGATGCAGAAGAAGCC	0.557000													9	102					9.70103e-10	1.20284e-09	0.069234	1	0
UFD1L	7353	broad.mit.edu	37	22	19455527	19455527	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:19455527C>T	ENST00000263202.9	-	5	421		c.e5-1		UFD1L_ENST00000484101.1_Splice_Site|UFD1L_ENST00000360834.4_Splice_Site|UFD1L_ENST00000399523.1_Splice_Site	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					TCTGCATCATCTGAAAGGAAG	0.537000													4	35					0	0	0.150653	0	0
R3HDM1	23518	broad.mit.edu	37	2	136389479	136389479	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:136389479A>G	ENST00000264160.4	+	9	976	c.606A>G	c.(604-606)ctA>ctG	p.L202L	R3HDM1_ENST00000409478.1_Silent_p.L158L|R3HDM1_ENST00000409606.1_Silent_p.L202L|R3HDM1_ENST00000329971.3_Silent_p.L158L|R3HDM1_ENST00000410054.1_Silent_p.L146L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	202	R3H.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATAGGATGCTATTACACAGAG	0.393000													27	149					0	0	0.134883	0	0
SLC12A2	6558	broad.mit.edu	37	5	127469953	127469953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:127469953G>T	ENST00000262461.2	+	6	1474	c.1285G>T	c.(1285-1287)Gag>Tag	p.E429*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.E429*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	429					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGCTGGAATGGAGTGGGAAGC	0.343000													36	75					1.58521e-26	2.48119e-26	0.080422	1	0
CFH	3075	broad.mit.edu	37	1	196716404	196716404	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:196716404G>T	ENST00000367429.4	+	22	3897	c.3657G>T	c.(3655-3657)tgG>tgT	p.W1219C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1219	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAACATGTTGGGATGGGAAAC	0.368000													46	64					1.60673e-49	2.69249e-49	0.139131	1	0
KDM4C	23081	broad.mit.edu	37	9	6888033	6888033	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:6888033A>G	ENST00000381309.3	+	7	1318	c.753A>G	c.(751-753)gtA>gtG	p.V251V	KDM4C_ENST00000543771.1_Silent_p.V251V|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000442236.2_Silent_p.V70V|KDM4C_ENST00000536108.1_Silent_p.V70V|KDM4C_ENST00000381306.3_Silent_p.V251V|KDM4C_ENST00000535193.1_Silent_p.V273V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	251	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTCCATCAGTATTGAAGAAAT	0.333000													93	50					0	0	0.139131	0	0
PINX1	54984	broad.mit.edu	37	8	10623297	10623297	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:10623297C>T	ENST00000314787.3	-	7	720	c.601G>A	c.(601-603)Gac>Aac	p.D201N	SOX7_ENST00000554914.1_Intron|PINX1_ENST00000426190.2_Silent_p.*173*|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_Silent_p.*175*	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCAGAAATGTCAGACCCTGGA	0.512000													43	118					0	0	0.139131	0	0
SETBP1	26040	broad.mit.edu	37	18	42530331	42530331	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:42530331G>C	ENST00000282030.5	+	4	1322	c.1026G>C	c.(1024-1026)gtG>gtC	p.V342V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	342						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAAAGATGTGATAAGTCAGA	0.483000									Schinzel-Giedion syndrome				18	71					0	0	0.043863	0	0
DLK1	8788	broad.mit.edu	37	14	101200499	101200499	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:101200499C>A	ENST00000341267.4	+	5	660	c.418C>A	c.(418-420)Cac>Aac	p.H140N	DLK1_ENST00000331224.6_Missense_Mutation_p.H140N	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	140	EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCCCTGCCAGCACGGAGGCAC	0.647000													9	36					4.68919e-08	5.56308e-08	0.069234	1	0
SYT9	143425	broad.mit.edu	37	11	7334683	7334683	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:7334683G>A	ENST00000318881.6	+	3	792	c.555G>A	c.(553-555)caG>caA	p.Q185Q	SYT9_ENST00000396716.2_Silent_p.Q153Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	185						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATATCCAGCAGCTTCAAAAAC	0.393000													8	57					0	0	0.069234	0	0
LAMA2	3908	broad.mit.edu	37	6	129513894	129513894	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:129513894G>A	ENST00000421865.2	+	12	1727	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	560	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGCAGGACGACTTGGACTC	0.547000													32	34					0	0	0.074837	0	0
ADAM12	8038	broad.mit.edu	37	10	127724787	127724787	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:127724787G>T	ENST00000368679.4	-	21	2775	c.2466C>A	c.(2464-2466)ctC>ctA	p.L822L		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	822					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GAGCCCGGTGGAGGGGAGGAA	0.582000													48	64					9.90819e-18	1.41701e-17	0.139131	1	0
TRIP11	9321	broad.mit.edu	37	14	92471799	92471799	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:92471799T>A	ENST00000267622.4	-	11	2894	c.2521A>T	c.(2521-2523)Aat>Tat	p.N841Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	841					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAATTTCATTTTTTCTTAAG	0.333000			T	PDGFRB	AML								11	19					0	0	0.093190	0	0
MCMDC2	157777	broad.mit.edu	37	8	67791074	67791074	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:67791074C>G	ENST00000422365.2	+	7	800	c.629C>G	c.(628-630)gCc>gGc	p.A210G	MCMDC2_ENST00000396592.3_Missense_Mutation_p.A210G|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A147G|MCMDC2_ENST00000492775.1_Missense_Mutation_p.A210G|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A210G	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	210					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						GAAATAATTGCCACAAAGGCA	0.279000													12	26					0	0	0.132662	0	0
FAM135A	57579	broad.mit.edu	37	6	71234590	71234590	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:71234590G>C	ENST00000418814.2	+	15	2417	c.1803G>C	c.(1801-1803)ttG>ttC	p.L601F	FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.L601F|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	601										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTGATCCTTTGAACTCTGGCA	0.383000													3	20					0	0	0.115264	0	0
LAMA2	3908	broad.mit.edu	37	6	129826417	129826417	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:129826417A>T	ENST00000421865.2	+	61	8669	c.8620A>T	c.(8620-8622)Aaa>Taa	p.K2874*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2874	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATCAGTCCCAAAAAAGCCGA	0.403000													21	31					0	0	0.076483	0	0
CCKAR	886	broad.mit.edu	37	4	26490882	26490882	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:26490882C>T	ENST00000295589.3	-	2	531	c.337G>A	c.(337-339)Gtt>Att	p.V113I		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	113					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTTGCAAACGGCGCTCCCG	0.562000													41	111					0	0	0.098360	0	0
PKHD1	5314	broad.mit.edu	37	6	51712598	51712598	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:51712598G>T	ENST00000371117.3	-	50	8357	c.8082C>A	c.(8080-8082)agC>agA	p.S2694R	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2694R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2694					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCTCAGCTGGCTATTGAAGA	0.458000													38	66					4.44401e-20	6.61847e-20	0.117977	1	0
MXRA5	25878	broad.mit.edu	37	X	3238246	3238246	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:3238246C>A	ENST00000217939.6	-	5	5634	c.5480G>T	c.(5479-5481)gGa>gTa	p.G1827V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1827						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGAAGCTTCCTGAGGACTG	0.488000													8	30					1.08611e-07	1.27404e-07	0.080935	1	0
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:128426243A>G	ENST00000392668.3	-	3	225	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448000													3	64					0	0	0.150653	0	0
OR6T1	219874	broad.mit.edu	37	11	123813849	123813849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:123813849C>A	ENST00000321252.2	-	1	731	c.697G>T	c.(697-699)Gag>Tag	p.E233*		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCTTCGCTCAGCAGCTGTA	0.507000													30	15					1.22384e-17	1.74547e-17	0.173368	1	0
PTGER3	5733	broad.mit.edu	37	1	71478037	71478037	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:71478037G>A	ENST00000370924.4	-	2	1258	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	PTGER3_ENST00000306666.5_Missense_Mutation_p.P343L|PTGER3_ENST00000351052.5_Missense_Mutation_p.P343L|PTGER3_ENST00000414819.1_Missense_Mutation_p.P343L|PTGER3_ENST00000460330.1_Missense_Mutation_p.P343L|PTGER3_ENST00000354608.5_Missense_Mutation_p.P343L|PTGER3_ENST00000370931.3_Missense_Mutation_p.P343L|PTGER3_ENST00000356595.4_Missense_Mutation_p.P343L|PTGER3_ENST00000370932.2_Missense_Mutation_p.P343L	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	343					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GTAAACCCAAGGATCCAAGAT	0.463000													16	11					0	0	0.175082	0	0
ZNF257	113835	broad.mit.edu	37	19	22271347	22271347	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:22271347C>A	ENST00000594947.1	+	4	939	c.795C>A	c.(793-795)gcC>gcA	p.A265A		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTGGCAAAGCCTTTAACCGGT	0.388000													25	16					3.69857e-22	5.60421e-22	0.134883	1	0
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								5	73					0	0	0.021553	0	0
EVPLL	645027	broad.mit.edu	37	17	18286157	18286157	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:18286157G>T	ENST00000399134.4	+	6	848	c.490G>T	c.(490-492)Gag>Tag	p.E164*	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	164										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCACCATCCGGAGCCAATACC	0.677000													7	33					6.40141e-05	7.00532e-05	0.080935	1	0
OR2T12	127064	broad.mit.edu	37	1	248458102	248458102	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:248458102G>T	ENST00000317996.1	-	1	778	c.779C>A	c.(778-780)cCc>cAc	p.P260H		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GTGGGATTTGGGTCTCATATA	0.483000													38	62					6.1244e-12	8.00235e-12	0.098360	1	0
APEX2	27301	broad.mit.edu	37	X	55033271	55033271	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:55033271G>C	ENST00000374987.3	+	6	1026	c.960G>C	c.(958-960)caG>caC	p.Q320H		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	320					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CTGCAAAACAGTGCCCACCTC	0.567000								Other BER factors					6	41					0	0	0.021553	0	0
FAM209B	388799	broad.mit.edu	37	20	55108525	55108525	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:55108525G>T	ENST00000371325.1	+	1	224	c.128G>T	c.(127-129)cGg>cTg	p.R43L		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	43						integral to membrane											GAGCACTTTCGGATTCGGCAG	0.527000													14	103					0.000422831	0.000455558	0.146539	1	0
RIMS2	9699	broad.mit.edu	37	8	105001560	105001560	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:105001560G>T	ENST00000507740.1	+	14	2567	c.2331G>T	c.(2329-2331)ggG>ggT	p.G777G	RIMS2_ENST00000436393.2_Silent_p.G763G|RIMS2_ENST00000406091.3_Silent_p.G985G|RIMS2_ENST00000262231.10_Silent_p.G824G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1047					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCTTCGAGGGACCCGCACTA	0.388000										HNSCC(12;0.0054)			34	94					4.92203e-23	7.51257e-23	0.086207	1	0
MMP20	9313	broad.mit.edu	37	11	102487653	102487653	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:102487653G>T	ENST00000260228.2	-	2	276	c.264C>A	c.(262-264)gaC>gaA	p.D88E	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	88					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TTGTGGTCTGGTCTAACTTCC	0.463000													18	22					1.10513e-12	1.45677e-12	0.069288	1	0
TADA1	117143	broad.mit.edu	37	1	166839042	166839042	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:166839042C>T	ENST00000367874.4	-	2	217	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	42					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AGGTCAAACTCCTCTTTGCTG	0.383000													34	135					0	0	0.117977	0	0
PIAS3	10401	broad.mit.edu	37	1	145580549	145580549	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:145580549A>G	ENST00000393045.2	+	7	939	c.849A>G	c.(847-849)ggA>ggG	p.G283G	PIAS3_ENST00000369298.1_Silent_p.G248G|PIAS3_ENST00000369299.3_3'UTR	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	283					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACTGCAGGAACCCTTCTAC	0.522000													15	74					0	0	0.055883	0	0
RORA	6095	broad.mit.edu	37	15	60795032	60795032	+	Silent	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:60795032A>C	ENST00000335670.6	-	8	1210	c.1110T>G	c.(1108-1110)cgT>cgG	p.R370R	RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000309157.4_Silent_p.R395R|RORA_ENST00000261523.5_Silent_p.R403R|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Silent_p.R315R	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	403	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AGTCAAAGGCACGGCACATTC	0.458000													77	236					0	0	0.139131	0	0
SSTR4	6754	broad.mit.edu	37	20	23016324	23016324	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:23016324C>G	ENST00000255008.3	+	1	268	c.204C>G	c.(202-204)gtC>gtG	p.V68V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	68					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCCCTGGTCATCTTCGTGA	0.657000													31	183					0	0	0.080422	0	0
LAMA2	3908	broad.mit.edu	37	6	129468115	129468115	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:129468115G>T	ENST00000421865.2	+	6	880	c.831G>T	c.(829-831)tcG>tcT	p.S277S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	277	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTACTACTCGGTCAAGGATA	0.398000													19	95					1.9806e-07	2.31291e-07	0.069288	1	0
FKBP8	23770	broad.mit.edu	37	19	18649221	18649221	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18649221C>A	ENST00000597960.2	-	5	697	c.577G>T	c.(577-579)Gcg>Tcg	p.A193S	FKBP8_ENST00000596558.1_Missense_Mutation_p.A192S|FKBP8_ENST00000222308.3_Missense_Mutation_p.A193S|FKBP8_ENST00000453489.2_Missense_Mutation_p.A221S|FKBP8_ENST00000544835.2_Intron			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	192	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CACAGGGCCGCGTGCGGGGGG	0.682000													10	46					4.68919e-08	5.56308e-08	0.069234	1	0
FAM149A	25854	broad.mit.edu	37	4	187078867	187078867	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:187078867G>T	ENST00000356371.5	+	8	1596	c.1596G>T	c.(1594-1596)ccG>ccT	p.P532P	FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000514153.1_Silent_p.P241P|FAM149A_ENST00000502970.1_Silent_p.P241P|FAM149A_ENST00000227065.4_Silent_p.P241P|FAM149A_ENST00000389354.5_Silent_p.P241P|FAM149A_ENST00000503432.1_Silent_p.P241P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	532			P -> L (in dbSNP:rs2276922).							breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GTCTGAACCCGCCCCAGGTCG	0.592000													57	21					2.23399e-28	3.51778e-28	0.139131	1	0
CLMP	79827	broad.mit.edu	37	11	123065631	123065631	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:123065631G>T	ENST00000448775.2	-	1	358	c.18C>A	c.(16-18)ctC>ctA	p.L6L	CTD-2216M2.1_ENST00000531681.1_RNA	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	6						integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CTAGCAAGAGGAGAAGGAGGA	0.711000													4	28					0.00116845	0.00123467	0.021553	1	0
CCDC116	164592	broad.mit.edu	37	22	21991024	21991024	+	Missense_Mutation	SNP	G	G	C	rs143471938		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:21991024G>C	ENST00000292779.3	+	5	1668	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	503										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCGTAAACTGGAGGAGTCCAA	0.632000													8	52					0	0	0.080935	0	0
PHLDB3	653583	broad.mit.edu	37	19	44001348	44001348	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:44001348C>A	ENST00000292140.5	-	6	1107	c.747G>T	c.(745-747)gaG>gaT	p.E249D	PHLDB3_ENST00000599242.1_Missense_Mutation_p.E249D	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	249										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCCGATCCTCCTCCTCCTGCC	0.627000													18	84					1.37657e-19	2.03272e-19	0.062417	1	0
KCNH7	90134	broad.mit.edu	37	2	163360955	163360955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:163360955G>A	ENST00000332142.5	-	6	1225	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Nonsense_Mutation_p.Q369*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	376					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGTCCTACCTGGGTCACTTTC	0.358000													22	120					0	0	0.108266	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554930	136554930	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:136554930G>C	ENST00000355849.5	+	3	651	c.241G>C	c.(241-243)Ggc>Cgc	p.G81R	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	81	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GGGTCCACGTGGCAATTCTCT	0.353000													21	46					0	0	0.108266	0	0
CSMD2	114784	broad.mit.edu	37	1	34037242	34037242	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:34037242G>T	ENST00000373381.4	-	51	8023	c.7847C>A	c.(7846-7848)gCc>gAc	p.A2616D		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2618	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCAGCTGGGCCTGGAACTG	0.547000													73	72					1.32003e-40	2.17369e-40	0.139131	1	0
MYO18B	84700	broad.mit.edu	37	22	26239702	26239702	+	Splice_Site	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:26239702G>T	ENST00000335473.7	+	18	3459	c.3208_splice	c.e18-1	p.G1070_splice	MYO18B_ENST00000407587.2_Splice_Site_p.G1071_splice|MYO18B_ENST00000536101.1_Splice_Site_p.G1070_splice	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1070	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGTTTCCAGGGTCCTCTGCC	0.572000													87	45					8.78727e-49	1.46783e-48	0.139131	1	0
KIF2B	84643	broad.mit.edu	37	17	51901177	51901177	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:51901177C>A	ENST00000268919.4	+	1	939	c.783C>A	c.(781-783)aaC>aaA	p.N261K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	261	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTGCAGAACCAGACCTTCT	0.542000													22	46					4.26978e-12	5.58602e-12	0.083992	1	0
RGS14	10636	broad.mit.edu	37	5	176795724	176795724	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:176795724C>T	ENST00000408923.3	+	9	1044	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	286					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGAGCCACCGGAAGAGCCT	0.582000											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	23					0	0	0.038147	0	0
DMRT3	58524	broad.mit.edu	37	9	990658	990658	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:990658C>G	ENST00000190165.2	+	2	1110	c.1072C>G	c.(1072-1074)Ctg>Gtg	p.L358V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	358					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGCTGGGCCTCTGCAGCCCCC	0.582000													29	21					0	0	0.163468	0	0
TSIX	9383	broad.mit.edu	37	X	73046033	73046033	+	RNA	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:73046033A>T	ENST00000604411.1	+	0	33994				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AATTCTTCTCATTGGCCTGGA	0.463000													10	70					0	0	0.080935	0	0
TRBV30	28557	broad.mit.edu	37	7	142510430	142510430	+	RNA	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:142510430C>A	ENST00000417977.2	-	0	287																											CTGGAGGCCCCTGCCTGCAGC	0.612000													4	8					0.00909568	0.00942988	0.150653	1	0
TBC1D14	57533	broad.mit.edu	37	4	7002883	7002883	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:7002883G>C	ENST00000409757.4	+	7	1299	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T	TBC1D14_ENST00000410031.1_Missense_Mutation_p.R164T|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R392T|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R5T|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R112T	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	392						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGGTGCTCTAGAAAAGTTCGA	0.493000													5	63					0	0	0.021553	0	0
ALPK3	57538	broad.mit.edu	37	15	85399757	85399757	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:85399757G>A	ENST00000258888.5	+	6	2561	c.2394G>A	c.(2392-2394)ggG>ggA	p.G798G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	798					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGAGGATGGGAGAACATCTG	0.512000													12	61					0	0	0.093190	0	0
COL3A1	1281	broad.mit.edu	37	2	189876385	189876385	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:189876385T>C	ENST00000304636.3	+	51	4456	c.4286T>C	c.(4285-4287)tTt>tCt	p.F1429S	COL3A1_ENST00000317840.5_Missense_Mutation_p.F1126S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1429	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAACAGTCTTTGAATATCGA	0.403000													20	83					0	0	0.108266	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841992	36841992	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:36841992G>A	ENST00000279024.4	-	14	3326	c.3055C>T	c.(3055-3057)Ctg>Ttg	p.L1019L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1019										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCCACCTGCAGCCCCACGGCT	0.667000													6	25					0	0	0.047766	0	0
EPHA5	2044	broad.mit.edu	37	4	66218759	66218759	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:66218759C>T	ENST00000273854.3	-	13	2899		c.e13+1		EPHA5_ENST00000511294.1_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site|EPHA5_ENST00000432638.2_Splice_Site	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCCAATCCTACCTTCAAAAAT	0.368000										TSP Lung(17;0.13)			51	22					0	0	0.139131	0	0
EBF3	253738	broad.mit.edu	37	10	131639150	131639150	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:131639150G>A	ENST00000368648.3	-	14	1564	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	EBF3_ENST00000355311.5_Missense_Mutation_p.P507S	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	507	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AGAAATCCAGGCGAGCCAGGG	0.522000													10	89					0	0	0.119110	0	0
PDXDC1	23042	broad.mit.edu	37	16	15095657	15095657	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:15095657C>G	ENST00000396410.4	+	4	283	c.186C>G	c.(184-186)ctC>ctG	p.L62L	PDXDC1_ENST00000535621.2_Silent_p.L62L|PDXDC1_ENST00000569715.1_Intron|PDXDC1_ENST00000455313.2_Silent_p.L62L|PDXDC1_ENST00000450288.2_Intron|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000563679.1_Silent_p.L80L|PDXDC1_ENST00000325823.7_Silent_p.L47L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	62					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGAGCATCCTCCAGTTAGTTC	0.498000													4	31					0	0	0.014758	0	0
R3HDML	140902	broad.mit.edu	37	20	42969877	42969877	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:42969877C>A	ENST00000217043.2	+	2	475	c.303C>A	c.(301-303)gcC>gcA	p.A101A		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	101						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AAGCCTGGGCCACCCAGTGCA	0.592000													28	34					2.81731e-10	3.53094e-10	0.153744	1	0
PRDM14	63978	broad.mit.edu	37	8	70978496	70978496	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:70978496C>A	ENST00000276594.2	-	5	1358	c.1157G>T	c.(1156-1158)gGg>gTg	p.G386V		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGGCTGCTTCCCCGGCTCTGT	0.537000													18	41					4.26978e-12	5.58602e-12	0.083992	1	0
SOX30	11063	broad.mit.edu	37	5	157073778	157073778	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:157073778T>C	ENST00000265007.6	-	3	1595	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L	SOX30_ENST00000519442.1_Silent_p.L113L|SOX30_ENST00000311371.5_Silent_p.L418L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	418					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAAACACTTAGAGGGAATC	0.383000													40	62					0	0	0.139131	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885761	88885761	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:88885761C>A	ENST00000319675.3	-	1	535	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	147								p.V147L(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCAAGTCCCACGAAGCACAGC	0.542000													20	45					5.35047e-06	6.0388e-06	0.083992	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44801331	44801331	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:44801331G>A	ENST00000309315.4	+	11	1546	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.E475K|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.E443K|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.E449K|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.E417K	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	475	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTACCACCACGAGGACCGGCA	0.602000													17	23					0	0	0.146539	0	0
CORIN	10699	broad.mit.edu	37	4	47628443	47628443	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:47628443A>G	ENST00000273857.4	-	17	2293	c.2294T>C	c.(2293-2295)tTa>tCa	p.L765S	CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Missense_Mutation_p.L698S|CORIN_ENST00000508498.1_Missense_Mutation_p.L626S|CORIN_ENST00000505909.1_Missense_Mutation_p.L728S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	765	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGTTCATGTAAAGTGGTCCC	0.428000													20	356					0	0	0.055883	0	0
AXDND1	126859	broad.mit.edu	37	1	179460858	179460858	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:179460858C>A	ENST00000367618.3	+	19	2664	c.2277C>A	c.(2275-2277)tcC>tcA	p.S759S		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	759										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACCAATACTCCAGCTATTTGA	0.413000													46	130					4.88482e-21	7.32724e-21	0.139131	1	0
SCUBE3	222663	broad.mit.edu	37	6	35209366	35209366	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:35209366C>G	ENST00000274938.7	+	11	1242	c.1242C>G	c.(1240-1242)ctC>ctG	p.L414L	SCUBE3_ENST00000394681.1_Silent_p.L430L	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	414					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AAGCCATGCTCAGCTGCAACC	0.582000											OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	120					0	0	0.080935	0	0
BSCL2	26580	broad.mit.edu	37	11	62472928	62472928	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:62472928G>A	ENST00000433053.1	-	3	805	c.249C>T	c.(247-249)gtC>gtT	p.V83V	BSCL2_ENST00000278893.7_Silent_p.V19V|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Silent_p.V19V|BSCL2_ENST00000421906.1_Silent_p.V19V|BSCL2_ENST00000407022.3_Silent_p.V19V|BSCL2_ENST00000405837.1_Silent_p.V83V|BSCL2_ENST00000537604.1_Intron|BSCL2_ENST00000360796.5_Silent_p.V83V			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	19					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGCCTGCCAAGACTTGGCCCA	0.622000													11	38					0	0	0.093190	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811019	106811019	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:106811019G>T	ENST00000407775.2	+	7	1057	c.807G>T	c.(805-807)ttG>ttT	p.L269F	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L137F|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L137F|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	269					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGCCCATTTGATGTACTACT	0.507000													10	26					4.68919e-08	5.56308e-08	0.069234	1	0
MID1	4281	broad.mit.edu	37	X	10423046	10423046	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:10423046C>G	ENST00000317552.4	-	9	1919	c.1519G>C	c.(1519-1521)Gaa>Caa	p.E507Q	MID1_ENST00000380780.1_Missense_Mutation_p.E507Q|MID1_ENST00000380782.2_Missense_Mutation_p.E507Q|MID1_ENST00000380785.1_Missense_Mutation_p.E507Q|MID1_ENST00000380787.1_Missense_Mutation_p.E507Q|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.E507Q|MID1_ENST00000453318.2_Missense_Mutation_p.E507Q	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	507	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCATCACGTTCTACTGTCAAG	0.438000													28	52					0	0	0.183431	0	0
USH2A	7399	broad.mit.edu	37	1	216173749	216173749	+	Missense_Mutation	SNP	T	T	C	rs146282882	by1000genomes	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:216173749T>C	ENST00000366943.2	-	33	6867	c.6481A>G	c.(6481-6483)Ata>Gta	p.I2161V	USH2A_ENST00000307340.3_Missense_Mutation_p.I2161V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2161	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTTACTGTATGTGTATAGTT	0.433000										HNSCC(13;0.011)			8	85					0	0	0.069234	0	0
BCL6B	255877	broad.mit.edu	37	17	6930310	6930310	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:6930310G>A	ENST00000293805.5	+	8	1319	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	409						nucleus	zinc ion binding			skin(1)	1						ACACCGGGGAGAAGCCCTACC	0.632000													27	54					0	0	0.134883	0	0
ZBED2	79413	broad.mit.edu	37	3	111312970	111312970	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:111312970C>G	ENST00000317012.4	-	2	1087	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	27							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TCACTAATCTCTTCCTCCTCC	0.517000													52	55					0	0	0.139131	0	0
FAM53C	51307	broad.mit.edu	37	5	137681183	137681183	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:137681183C>T	ENST00000239906.5	+	4	1234	c.806C>T	c.(805-807)cCc>cTc	p.P269L	FAM53C_ENST00000434981.2_Missense_Mutation_p.P269L|FAM53C_ENST00000513056.1_Missense_Mutation_p.P79S	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	269										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGCAACCTTCCCCGAAGCCGC	0.667000													18	60					0	0	0.062417	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163672	12163672	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:12163672C>G	ENST00000379388.2	+	9	7467	c.7135C>G	c.(7135-7137)Cat>Gat	p.H2379D	HIVEP1_ENST00000541134.1_Missense_Mutation_p.H244D	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2379					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCCCACACTCATTTGTTTAG	0.532000													18	81					0	0	0.049695	0	0
PPID	5481	broad.mit.edu	37	4	159644357	159644357	+	Splice_Site	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:159644357T>A	ENST00000307720.3	-	1	191	c.85_splice	c.e1+1	p.R28_splice		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	28	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TCCGCTCACCTCGCTCCCCTC	0.647000													31	9					0	0	0.183431	0	0
U2AF2	11338	broad.mit.edu	37	19	56179919	56179919	+	Silent	SNP	C	C	T	rs80011152	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:56179919C>T	ENST00000450554.2	+	8	1748	c.789C>T	c.(787-789)atC>atT	p.I263I	U2AF2_ENST00000590551.1_Silent_p.I99I|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Silent_p.I263I	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	263	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCTGTTCATCGGGGGCTTAC	0.582000													9	88					0	0	0.069234	0	0
TRPM1	4308	broad.mit.edu	37	15	31354895	31354895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:31354895C>A	ENST00000542188.1	-	8	1340	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	TRPM1_ENST00000397795.2_Nonsense_Mutation_p.E304*|TRPM1_ENST00000256552.6_Nonsense_Mutation_p.E326*	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	304					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGAGGGACTCATTTATTATT	0.333000													17	13					4.63292e-17	6.5717e-17	0.049695	1	0
GCG	2641	broad.mit.edu	37	2	163003990	163003990	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:163003990C>A	ENST00000418842.2	-	3	381	c.127G>T	c.(127-129)Gat>Tat	p.D43Y	GCG_ENST00000375497.3_Missense_Mutation_p.D43Y	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	43					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	p.D43N(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TGATCAGGATCACTGAGTGGG	0.483000													48	261					4.57929e-16	6.40855e-16	0.139131	1	0
AGAP3	116988	broad.mit.edu	37	7	150840846	150840846	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:150840846G>T	ENST00000397238.2	+	18	2552	c.2552G>T	c.(2551-2553)cGg>cTg	p.R851L	AGAP3_ENST00000463381.1_Missense_Mutation_p.R520L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	815					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GTGAGGAGCCGGGACGCCCGG	0.602000													39	18					1.30916e-28	2.0646e-28	0.139131	1	0
MTNR1B	4544	broad.mit.edu	37	11	92714732	92714732	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:92714732G>T	ENST00000257068.2	+	2	349	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	115					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCACTGCAAGGCCAGCGCCTT	0.587000													14	82					1.5739e-10	1.99896e-10	0.146539	1	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337249	69337249	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:69337249C>A	ENST00000305363.4	+	5	462	c.398C>A	c.(397-399)aCt>aAt	p.T133N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	133	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GATCCTGAAACTGTAGATAAA	0.368000													68	197					4.09166e-32	6.52167e-32	0.139131	1	0
NCSTN	23385	broad.mit.edu	37	1	160324062	160324062	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:160324062C>T	ENST00000368063.1	+	12	1554	c.1274C>T	c.(1273-1275)tCt>tTt	p.S425F	NCSTN_ENST00000294785.5_Missense_Mutation_p.S445F|NCSTN_ENST00000392212.4_Missense_Mutation_p.S425F|NCSTN_ENST00000368065.4_Missense_Mutation_p.S187F|NCSTN_ENST00000535857.1_Missense_Mutation_p.S307F|NCSTN_ENST00000459963.1_3'UTR			Q92542	NICA_HUMAN	nicastrin	445					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGACCACTCTGGTGCCTTC	0.532000													18	114					0	0	0.069288	0	0
HELT	391723	broad.mit.edu	37	4	185941818	185941818	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:185941818C>T	ENST00000338875.4	+	4	876	c.876C>T	c.(874-876)ccC>ccT	p.P292P	HELT_ENST00000515777.1_Silent_p.P207P|HELT_ENST00000505610.1_Silent_p.P206P	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	292	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGCACAGCCCCTTCCTGACAC	0.736000													17	41					0	0	0.043863	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186908349	186908349	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:186908349C>A	ENST00000367466.3	+	9	1057	c.905C>A	c.(904-906)aCa>aAa	p.T302K	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T242K|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	302	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATAGGAGAAACACTAATTCAT	0.284000													18	26					1.56452e-12	2.05713e-12	0.043863	1	0
EVI2B	2124	broad.mit.edu	37	17	29632234	29632234	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:29632234G>T	ENST00000330927.4	-	2	548	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.R132S|CTD-2370N5.3_ENST00000578584.1_3'UTR|EVI2B_ENST00000544462.1_Missense_Mutation_p.R147S	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	132						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GTAGAAGTACGGGCAGATGGT	0.443000													50	262					1.88225e-35	3.06086e-35	0.139131	1	0
DMD	1756	broad.mit.edu	37	X	31496470	31496470	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:31496470G>T	ENST00000357033.4	-	59	8896	c.8690C>A	c.(8689-8691)gCc>gAc	p.A2897D	DMD_ENST00000378707.3_Missense_Mutation_p.A437D|DMD_ENST00000343523.2_Missense_Mutation_p.A437D|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.A2893D|DMD_ENST00000474231.1_Missense_Mutation_p.A437D|DMD_ENST00000359836.1_Missense_Mutation_p.A437D|DMD_ENST00000541735.1_Missense_Mutation_p.A437D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2897					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACATTCTGGGCTCTCTCCTC	0.433000													13	57					1.45105e-14	1.97767e-14	0.175082	1	0
YTHDC2	64848	broad.mit.edu	37	5	112889304	112889304	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:112889304C>G	ENST00000161863.4	+	14	2098	c.1885C>G	c.(1885-1887)Ctg>Gtg	p.L629V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.L629V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	629	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACTAATTTTTCTGCCTGGATA	0.368000													15	62					0	0	0.049695	0	0
IL27	246778	broad.mit.edu	37	16	28515207	28515207	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:28515207G>T	ENST00000356897.1	-	2	218	c.196C>A	c.(196-198)Cac>Aac	p.H66N		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	66					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ACAAAGCGGTGGGCCTGGCCC	0.657000													22	54					1.17739e-12	1.55006e-12	0.108266	1	0
UBE4B	10277	broad.mit.edu	37	1	10197236	10197236	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:10197236G>C	ENST00000377157.3	+	16	2662	c.1601G>C	c.(1600-1602)aGa>aCa	p.R534T	UBE4B_ENST00000343090.6_Missense_Mutation_p.R779T|UBE4B_ENST00000253251.8_Missense_Mutation_p.R650T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	779					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TATATCCGCAGACTCCGGGCT	0.522000													29	158					0	0	0.080422	0	0
ADAM12	8038	broad.mit.edu	37	10	127731628	127731628	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:127731628G>A	ENST00000368679.4	-	18	2403	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	ADAM12_ENST00000368676.4_Silent_p.S698S	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	698					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGATGGGGCCGCTGTCTGTGC	0.637000													3	38					0	0	0.150653	0	0
XK	7504	broad.mit.edu	37	X	37587552	37587552	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:37587552G>T	ENST00000378616.3	+	3	1375	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	391					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TTTCAGAGGTGGCTCAGGTGT	0.473000													25	23					2.79863e-10	3.51597e-10	0.099896	1	0
KCNA4	3739	broad.mit.edu	37	11	30032313	30032313	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:30032313G>C	ENST00000328224.6	-	2	3146	c.1913C>G	c.(1912-1914)aCa>aGa	p.T638R		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	638						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GTTTTTATCTGTCTCACTGTC	0.458000													32	71					0	0	0.074837	0	0
WDR17	116966	broad.mit.edu	37	4	177071727	177071727	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:177071727C>A	ENST00000393643.2	+	16	2539	c.2287C>A	c.(2287-2289)Ctg>Atg	p.L763M	WDR17_ENST00000280190.4_Missense_Mutation_p.L787M|WDR17_ENST00000507824.2_Missense_Mutation_p.L770M|WDR17_ENST00000508596.1_Missense_Mutation_p.L763M	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	787										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTGAAACATCTGATTAAATT	0.303000													10	55					5.16669e-11	6.62656e-11	0.080935	1	0
LHX6	26468	broad.mit.edu	37	9	124979357	124979357	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:124979357G>T	ENST00000559895.1	-	2	902	c.24C>A	c.(22-24)gcC>gcA	p.A8A	LHX6_ENST00000340587.3_Silent_p.A224A|LHX6_ENST00000373755.2_Silent_p.A195A|LHX6_ENST00000394319.4_Silent_p.A224A|LHX6_ENST00000373754.2_Silent_p.A195A|LHX6_ENST00000541397.2_Silent_p.A213A	NM_001242335.1	NP_001229264.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	195					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						CGTTCTCGGCGGCCCTCTTGA	0.647000													42	33					2.14674e-31	3.41126e-31	0.139131	1	0
SHPRH	257218	broad.mit.edu	37	6	146266723	146266723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:146266723C>A	ENST00000367503.3	-	8	1770	c.1372G>T	c.(1372-1374)Gga>Tga	p.G458*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.G458*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.G458*|SHPRH_ENST00000367505.2_Nonsense_Mutation_p.G458*	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	458	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATGGACACTCCTTTTTTTCCA	0.328000													8	9					1.26484e-09	1.56457e-09	0.038147	1	0
WARS	7453	broad.mit.edu	37	14	100801274	100801274	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:100801274C>T	ENST00000355338.2	-	11	1972	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I	WARS_ENST00000358655.4_Missense_Mutation_p.V411I|WARS_ENST00000556645.1_Missense_Mutation_p.V411I|WARS_ENST00000344102.5_Missense_Mutation_p.V411I|WARS_ENST00000392882.2_Missense_Mutation_p.V452I|WARS_ENST00000557135.1_Missense_Mutation_p.V452I|RP11-638I2.8_ENST00000557226.1_RNA	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	452					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCATCCGTGACCTCCTTGCGC	0.512000													10	84					0	0	0.069234	0	0
DAB1	1600	broad.mit.edu	37	1	57602315	57602315	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:57602315C>A	ENST00000371236.2	-	4	471		c.e4-1		DAB1_ENST00000371230.1_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000414851.2_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CAACAACGCCCTGTTGAAAGG	0.413000													4	21					3.59834e-05	3.96272e-05	0.021553	1	0
ABCA9	10350	broad.mit.edu	37	17	67023491	67023491	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:67023491C>T	ENST00000340001.4	-	14	2102	c.1891G>A	c.(1891-1893)Gcc>Acc	p.A631T	ABCA9_ENST00000370732.2_Missense_Mutation_p.A631T|ABCA9_ENST00000453985.2_Missense_Mutation_p.A631T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	631	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTAAAATGGCAATCCCAAAA	0.313000													7	10					0	0	0.069234	0	0
PAGE1	8712	broad.mit.edu	37	X	49454072	49454072	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:49454072C>T	ENST00000376150.3	-	5	499	c.367G>A	c.(367-369)Gtc>Atc	p.V123I		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	123					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					AACTCCTGGACATCAGGACCA	0.483000													34	148					0	0	0.080422	0	0
CRLF1	9244	broad.mit.edu	37	19	18710443	18710443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18710443G>T	ENST00000392386.3	-	2	522	c.329C>A	c.(328-330)tCg>tAg	p.S110*		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	110	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	p.S110*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTTGTCCCCCGACCGCTGCCT	0.672000													11	49					1.08611e-07	1.27404e-07	0.080935	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73149349	73149349	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:73149349C>A	ENST00000286657.4	-	22	3158	c.3122G>T	c.(3121-3123)gGt>gTt	p.G1041V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1041	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGTTATAACCTGGTATGGA	0.418000													13	150					2.48551e-13	3.32249e-13	0.160694	1	0
E2F2	1870	broad.mit.edu	37	1	23845603	23845603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:23845603G>A	ENST00000361729.2	-	5	1183	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	E2F2_ENST00000487237.1_5'UTR	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	253	Dimerization (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CGGATATCCTGGTAAGTCACA	0.547000													18	106					0	0	0.062417	0	0
NBPF18P	441908	broad.mit.edu	37	1	151992726	151992726	+	RNA	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:151992726C>T	ENST00000432386.1	+	0	2391					NR_103561.1																						ATGAAGAATTCAAAGACCTCA	0.532000													6	61					0	0	0.029380	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423223	107423223	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:107423223C>G	ENST00000409382.3	-	6	2111	c.1501G>C	c.(1501-1503)Ggg>Cgg	p.G501R	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G501R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	501					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGCAAATCCCCCTGCGTGCCC	0.587000													46	38					0	0	0.139131	0	0
OR2T10	127069	broad.mit.edu	37	1	248756939	248756939	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:248756939G>T	ENST00000330500.2	-	1	161	c.131C>A	c.(130-132)aCa>aAa	p.T44K		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGTATCAATGTAATATTCCA	0.413000													19	63					5.26018e-13	6.9957e-13	0.062417	1	0
BMPR2	659	broad.mit.edu	37	2	203424452	203424452	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:203424452C>T	ENST00000374580.4	+	13	3439	c.2900C>T	c.(2899-2901)tCa>tTa	p.S967L	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	967					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AAATCAGGATCAGGTGAAAAG	0.428000													13	25					0	0	0.105934	0	0
TAF1L	138474	broad.mit.edu	37	9	32630650	32630650	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:32630650G>C	ENST00000242310.4	-	1	5017	c.4928C>G	c.(4927-4929)gCa>gGa	p.A1643G		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1643					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCAAAGCTGCTTCTTTAGC	0.443000													116	38					0	0	0.139131	0	0
NUP205	23165	broad.mit.edu	37	7	135322691	135322691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:135322691G>T	ENST00000285968.6	+	37	5175	c.5149G>T	c.(5149-5151)Gga>Tga	p.G1717*		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1717					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCAGTGCTTAGGACTACTAAG	0.373000													5	30					0.00198382	0.00209203	0.029380	1	0
CEP120	153241	broad.mit.edu	37	5	122720712	122720712	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:122720712C>A	ENST00000306467.5	-	11	2000	c.1696G>T	c.(1696-1698)Ggt>Tgt	p.G566C	CEP120_ENST00000328236.5_Missense_Mutation_p.G566C|CEP120_ENST00000306481.6_Missense_Mutation_p.G540C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	566						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CCATTAGAACCTAAAAAACGA	0.373000													7	53					2.74318e-10	3.45879e-10	0.058154	1	0
TUBB4A	10382	broad.mit.edu	37	19	6495474	6495474	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:6495474G>T	ENST00000264071.2	-	4	1407	c.1036C>A	c.(1036-1038)Ccc>Acc	p.P346T	TUBB4A_ENST00000540257.1_Missense_Mutation_p.P346T			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	346					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										ACGTTGTTGGGGATCCACTCC	0.632000													89	116					1.44786e-46	2.40695e-46	0.139131	1	0
MAGEA3	4102	broad.mit.edu	37	X	151935687	151935687	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:151935687C>A	ENST00000393902.3	-	3	1047	c.480G>T	c.(478-480)ctG>ctT	p.L160L	MAGEA3_ENST00000370278.3_Silent_p.L160L			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	160	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAAAGACCAGCTGCAAGG	0.547000													34	48					5.8336e-16	8.14209e-16	0.183431	1	0
SPTY2D1	144108	broad.mit.edu	37	11	18637123	18637123	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:18637123G>C	ENST00000336349.5	-	3	933	c.698C>G	c.(697-699)tCt>tGt	p.S233C		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	233										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTCTTTCTGAGAGGGTGCCTT	0.443000													24	113					0	0	0.125774	0	0
NCEH1	57552	broad.mit.edu	37	3	172365893	172365893	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:172365893G>T	ENST00000475381.1	-	2	383	c.150C>A	c.(148-150)atC>atA	p.I50I	NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Silent_p.I82I|NCEH1_ENST00000273512.3_Silent_p.I82I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	50					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CCAGGTAGTGGATCAGGTTAC	0.522000													13	65					2.48551e-13	3.32249e-13	0.160694	1	0
C9orf91	203197	broad.mit.edu	37	9	117405509	117405509	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:117405509G>T	ENST00000374049.4	+	9	1385	c.948G>T	c.(946-948)acG>acT	p.T316T	C9orf91_ENST00000288502.4_Silent_p.T315T	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	315						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						CACGACACACGAACTCTCCGA	0.587000													60	32					3.86002e-21	5.79836e-21	0.139131	1	0
ATP2B4	493	broad.mit.edu	37	1	203669355	203669355	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:203669355G>A	ENST00000357681.5	+	5	1794	c.671G>A	c.(670-672)gGa>gAa	p.G224E	ATP2B4_ENST00000367218.3_Missense_Mutation_p.G224E|ATP2B4_ENST00000391954.2_Missense_Mutation_p.G224E|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G224E|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G224E	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	224					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTGCAGATGGAATCCTGATC	0.512000													7	148					0	0	0.029380	0	0
RPL28	6158	broad.mit.edu	37	19	55897779	55897779	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:55897779C>G	ENST00000344063.2	+	2	683	c.54C>G	c.(52-54)atC>atG	p.I18M	RPL28_ENST00000560055.1_Missense_Mutation_p.I18M|RPL28_ENST00000559463.1_Missense_Mutation_p.I18M|RPL28_ENST00000558815.1_Missense_Mutation_p.I18M|RPL28_ENST00000560583.1_Missense_Mutation_p.I18M|RPL28_ENST00000558752.1_Missense_Mutation_p.I18M|RPL28_ENST00000558131.1_Missense_Mutation_p.I18M|RPL28_ENST00000458349.2_Missense_Mutation_p.I18M|RPL28_ENST00000431533.2_Missense_Mutation_p.I18M|RPL28_ENST00000428193.2_Missense_Mutation_p.I18M			P46779	RL28_HUMAN	ribosomal protein L28	18					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTTTCCTGATCAAGAGGAATA	0.607000													6	44					0	0	0.058154	0	0
GJC2	57165	broad.mit.edu	37	1	228346354	228346354	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:228346354C>A	ENST00000366714.2	+	2	1070	c.895C>A	c.(895-897)Cgc>Agc	p.R299S		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	299					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GGACGCGGTGCGCGGCCGCCG	0.771000													9	4					0.000274275	0.000296422	0.047766	1	0
TEX15	56154	broad.mit.edu	37	8	30705432	30705432	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:30705432C>T	ENST00000256246.2	-	1	1176	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	368										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTATTTTCCCCAATTTCAGT	0.383000													5	17					0	0	0.021553	0	0
MTX2	10651	broad.mit.edu	37	2	177134358	177134358	+	Translation_Start_Site	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:177134358A>G	ENST00000249442.6	+	1	212	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	MTX2_ENST00000392529.2_5'UTR|MTX2_ENST00000443241.1_Start_Codon_SNP_p.M1V	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	1					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			CCCAGCCGACATGTCTCTAGT	0.716000													5	2					0	0	0.058154	0	0
C20orf26	26074	broad.mit.edu	37	20	20037345	20037345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:20037345C>A	ENST00000245957.5	+	2	124	c.48C>A	c.(46-48)tgC>tgA	p.C16*	C20orf26_ENST00000377306.1_Nonsense_Mutation_p.C16*|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Nonsense_Mutation_p.C16*|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	16										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTGTTCATTGCCGAAGAACAG	0.353000													64	20					4.98182e-18	7.17382e-18	0.139131	1	0
ZIM2	23619	broad.mit.edu	37	19	57290750	57290750	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:57290750C>A	ENST00000391708.3	-	11	1279	c.737G>T	c.(736-738)tGt>tTt	p.C246F	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.C246F|ZIM2_ENST00000599935.1_Missense_Mutation_p.C246F|ZIM2_ENST00000221722.5_Missense_Mutation_p.C246F|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.C246F	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTCACCTTGACAAATCACTGT	0.517000													23	115					2.79863e-10	3.51597e-10	0.099896	1	0
BNIP1	662	broad.mit.edu	37	5	172571589	172571589	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:172571589A>C	ENST00000231668.9	+	1	145	c.41A>C	c.(40-42)cAa>cCa	p.Q14P	BNIP1_ENST00000393770.4_Missense_Mutation_p.Q14P|BNIP1_ENST00000352523.6_Missense_Mutation_p.Q14P|BNIP1_ENST00000351486.5_Missense_Mutation_p.Q14P|CTC-209H22.3_ENST00000521251.1_RNA	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	14			Q -> H (in dbSNP:rs5745100).	Q -> R (in Ref. 3; AAO91805).	anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCTGTAACCAAGAGATTGTC	0.602000											OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	38					0	0	0.038147	0	0
PRMT6	55170	broad.mit.edu	37	1	107599563	107599563	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:107599563C>T	ENST00000361318.5	+	1	297	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	PRMT6_ENST00000370078.1_Missense_Mutation_p.R76W	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	76	Poly-Gly.				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GGGTATCCTTCGGAACTGGGC	0.657000													14	43					0	0	0.175082	0	0
KIAA1109	84162	broad.mit.edu	37	4	123164214	123164214	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:123164214C>G	ENST00000264501.4	+	30	5106	c.4733C>G	c.(4732-4734)tCa>tGa	p.S1578*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.S1578*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.S1578*			Q2LD37	K1109_HUMAN	KIAA1109	1578					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTTCAGGATCAACTTCAAAG	0.303000													7	137					0	0	0.058154	0	0
MEDAG	84935	broad.mit.edu	37	13	31480812	31480812	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr13:31480812C>A	ENST00000380482.4	+	1	485	c.160C>A	c.(160-162)Cag>Aag	p.Q54K	TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588726.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		GAGCGGCGACCAGCTCGTGGT	0.741000													3	6					0.115264	0.117058	0.115264	1	0
CTNNA1	1495	broad.mit.edu	37	5	138269493	138269493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:138269493G>A	ENST00000518825.1	+	18	2509	c.2507G>A	c.(2506-2508)tGg>tAg	p.W836*	CTNNA1_ENST00000355078.5_Silent_p.V709V|CTNNA1_ENST00000540387.1_Silent_p.V442V|CTNNA1_ENST00000302763.7_Silent_p.V812V			P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	0					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTCGTAGGTGGACAGCGCCA	0.582000													8	25					0	0	0.069234	0	0
LPA	4018	broad.mit.edu	37	6	161016500	161016500	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:161016500G>T	ENST00000447678.1	-	22	3475	c.3355C>A	c.(3355-3357)Ccc>Acc	p.P1119T	LPA_ENST00000316300.5_Missense_Mutation_p.P1119T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3627	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGACACTGGGATCCATGGTG	0.522000													42	50					2.24059e-37	3.67218e-37	0.139131	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820278	159820278	+	RNA	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:159820278G>T	ENST00000497452.1	-	0	517																											CCACCAGATTGCTCAGGGAAC	0.458000													9	93					6.40141e-05	7.00532e-05	0.080935	1	0
GP2	2813	broad.mit.edu	37	16	20322604	20322604	+	Splice_Site	SNP	C	C	A	rs35027086		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:20322604C>A	ENST00000302555.5	-	11	1696		c.e11-1		GP2_ENST00000381360.5_Splice_Site|GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000381362.4_Splice_Site			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)							anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACCAGGAACCCTGAAATACAA	0.502000													36	20					1.48734e-19	2.1901e-19	0.131918	1	0
OR2T12	127064	broad.mit.edu	37	1	248458101	248458101	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:248458101G>T	ENST00000317996.1	-	1	779	c.780C>A	c.(778-780)ccC>ccA	p.P260P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGTGGGATTTGGGTCTCATAT	0.483000													37	64					5.59293e-11	7.15566e-11	0.092188	1	0
LDLRAD4	753	broad.mit.edu	37	18	13621256	13621256	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:13621256G>T	ENST00000361205.4	+	5	990	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.D71Y|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.D71Y|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.D108Y|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.D31Y|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.D108Y	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		GAGGCGGGAGGACGGGCTGCC	0.647000													28	117					2.46105e-21	3.70756e-21	0.153744	1	0
RALYL	138046	broad.mit.edu	37	8	85441665	85441665	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:85441665G>A	ENST00000521268.1	+	2	1214	c.109G>A	c.(109-111)Gac>Aac	p.D37N	RALYL_ENST00000518566.1_Missense_Mutation_p.D37N|RALYL_ENST00000521695.1_Missense_Mutation_p.D37N|RALYL_ENST00000517638.1_Missense_Mutation_p.D50N|RALYL_ENST00000522455.1_Missense_Mutation_p.D37N	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	37	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CAAGAAAGTTGACATTGAAGC	0.408000													5	12					0	0	0.029380	0	0
IKBKB	3551	broad.mit.edu	37	8	42179970	42179970	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:42179970G>T	ENST00000520810.1	+	19	2130	c.1944G>T	c.(1942-1944)gaG>gaT	p.E648D	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.E589D|IKBKB_ENST00000379708.3_Missense_Mutation_p.E425D|IKBKB_ENST00000520835.1_Missense_Mutation_p.E646D	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	648					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GGCTGCAGGAGAAGCGGCAGA	0.562000													24	94					7.26314e-15	9.93803e-15	0.125774	1	0
HS3ST2	9956	broad.mit.edu	37	16	22926860	22926860	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:22926860G>T	ENST00000261374.3	+	2	1515	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	361						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TGAAACCGTTGGGCAGGACTT	0.448000													46	33					3.76997e-23	5.77104e-23	0.139131	1	0
PCLO	27445	broad.mit.edu	37	7	82584893	82584893	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:82584893C>A	ENST00000423517.2	-	5	5713	c.5376G>T	c.(5374-5376)caG>caT	p.Q1792H	PCLO_ENST00000333891.8_Missense_Mutation_p.Q1792H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1723					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTATTTCCCTCTGCTTTTCTT	0.398000													20	20					5.03518e-11	6.47381e-11	0.043863	1	0
SEMA6D	80031	broad.mit.edu	37	15	48056403	48056403	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:48056403T>A	ENST00000316364.5	+	11	1437	c.998T>A	c.(997-999)aTg>aAg	p.M333K	SEMA6D_ENST00000354744.4_Missense_Mutation_p.M333K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.M333K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.M333K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.M333K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.M333K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.M333K|SEMA6D_ENST00000389425.3_Missense_Mutation_p.M333K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.M333K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.M333K|SEMA6D_ENST00000355997.3_Missense_Mutation_p.M333K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.M333K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	333	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GCATTTAGCATGGATGACATT	0.458000													13	50					0	0	0.132662	0	0
ARL13A	392509	broad.mit.edu	37	X	100240690	100240690	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:100240690G>T	ENST00000450049.2	+	4	278	c.165G>T	c.(163-165)tcG>tcT	p.S55S		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	55							GTP binding			endometrium(1)|ovary(1)	2						GCATGAAATCGGAACTGACTA	0.448000													3	57					0.004672	0.00489224	0.115264	1	0
TSIX	9383	broad.mit.edu	37	X	73040752	73040752	+	RNA	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:73040752T>A	ENST00000604411.1	+	0	28713				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TAATTCCTTGTGTCTGCATAA	0.328000													25	46					0	0	0.173368	0	0
MMAB	326625	broad.mit.edu	37	12	109994891	109994891	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:109994891C>A	ENST00000545712.2	-	9	1088	c.695G>T	c.(694-696)gGg>gTg	p.G232V	MMAB_ENST00000540016.1_Missense_Mutation_p.G180V|MMAB_ENST00000266839.5_Missense_Mutation_p.G141V	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	232					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCTTGATTCCCCTCCTTCAT	0.478000													43	25					6.14515e-18	8.83683e-18	0.139131	1	0
FAM83G	644815	broad.mit.edu	37	17	18882139	18882139	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:18882139C>A	ENST00000388995.6	-	5	1063	c.840G>T	c.(838-840)acG>acT	p.T280T	FAM83G_ENST00000345041.4_Silent_p.T280T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.T280T|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	280										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATTCCGGTCCGTCCGCGCGG	0.637000													16	88					2.94398e-08	3.51661e-08	0.043863	1	0
LAMA3	3909	broad.mit.edu	37	18	21343483	21343483	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:21343483G>C	ENST00000313654.9	+	8	1419	c.1178G>C	c.(1177-1179)tGt>tCt	p.C393S	LAMA3_ENST00000399516.3_Missense_Mutation_p.C393S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	393	Domain V.|Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCATTAACTGTCAGGTGAGG	0.488000													21	155					0	0	0.099896	0	0
ABCC12	94160	broad.mit.edu	37	16	48134857	48134857	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:48134857G>A	ENST00000448542.1	-	20	2733	c.2728C>T	c.(2728-2730)Cac>Tac	p.H910Y	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000311303.3_Silent_p.F988F			Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	0	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGATGTGGGTGAACCAGGGTG	0.572000													6	44					0	0	0.058154	0	0
C2orf80	389073	broad.mit.edu	37	2	209046029	209046029	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:209046029C>A	ENST00000341287.4	-	5	402	c.206_splice	c.e5-1	p.L69_splice	C2orf80_ENST00000451346.1_Splice_Site_p.L50_splice|C2orf80_ENST00000453017.1_Splice_Site_p.L69_splice	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	69										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GTGGTATTTTCCTAATGGGGA	0.363000													11	67					3.45872e-05	3.81702e-05	0.146539	1	0
PSG9	5678	broad.mit.edu	37	19	43773566	43773566	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:43773566G>T	ENST00000244293.7	-	1	84	c.18C>A	c.(16-18)gcC>gcA	p.A6A	PSG9_ENST00000270077.3_Silent_p.A6A|PSG9_ENST00000596730.1_Silent_p.A6A|PSG9_ENST00000418820.2_Silent_p.A6A|PSG9_ENST00000291752.5_Silent_p.A6A|PSG9_ENST00000443718.3_Silent_p.A6A|PSG9_ENST00000593948.1_Silent_p.A6A			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	6					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGCAGGAAGGGGCTGGGAGGG	0.617000													28	171					2.95478e-19	4.33257e-19	0.104719	1	0
DAZAP1	26528	broad.mit.edu	37	19	1428883	1428883	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:1428883G>T	ENST00000336761.6	+	8	794	c.589G>T	c.(589-591)Gcg>Tcg	p.A197S	DAZAP1_ENST00000233078.4_Missense_Mutation_p.A197S|DAZAP1_ENST00000586579.1_3'UTR	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	197					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		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)		CAAGAGCCAAGCGCCGGGACA	0.657000													12	50					6.40141e-05	7.00532e-05	0.080935	1	0
CRISP3	10321	broad.mit.edu	37	6	49698888	49698888	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:49698888C>T	ENST00000433368.2	-	7	736	c.667G>A	c.(667-669)Gat>Aat	p.D223N	CRISP3_ENST00000263045.4_Missense_Mutation_p.D213N|CRISP3_ENST00000371159.4_Missense_Mutation_p.D231N|CRISP3_ENST00000423399.2_Missense_Mutation_p.D110N|CRISP3_ENST00000393666.1_Missense_Mutation_p.D200N	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	200					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CATAGTCCATCGTCACAGTTA	0.343000													33	47					0	0	0.074837	0	0
LRRC42	115353	broad.mit.edu	37	1	54427715	54427715	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:54427715G>A	ENST00000371370.3	+	6	1254	c.733G>A	c.(733-735)Gag>Aag	p.E245K	LRRC42_ENST00000319223.4_Missense_Mutation_p.E245K|LRRC42_ENST00000477905.1_3'UTR	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	245										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						AGGTAACCCTGAGATCACAGA	0.398000													11	71					0	0	0.080935	0	0
SP3	6670	broad.mit.edu	37	2	174820238	174820238	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:174820238G>C	ENST00000310015.6	-	4	1532	c.1002C>G	c.(1000-1002)tcC>tcG	p.S334S	SP3_ENST00000418194.2_Silent_p.S266S|SP3_ENST00000455789.2_Silent_p.S281S	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	334					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGATGAAGAGGATGTTGGCA	0.378000													23	144					0	0	0.163468	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938085	29938085	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:29938085G>A	ENST00000378993.1	+	8	1604	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G311R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	311	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAGCATCTTGGGGAACAGGA	0.368000													15	71					0	0	0.049695	0	0
ELF3	1999	broad.mit.edu	37	1	201981192	201981192	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:201981192G>A	ENST00000359651.3	+	2	3463	c.271G>A	c.(271-273)Gac>Aac	p.D91N	ELF3_ENST00000367284.5_Missense_Mutation_p.D91N|ELF3_ENST00000367283.3_Missense_Mutation_p.D91N|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	91	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGCGCCATTGACTTCTCACG	0.577000													25	89					0	0	0.116897	0	0
QRICH2	84074	broad.mit.edu	37	17	74271963	74271963	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:74271963T>C	ENST00000262765.5	-	18	5100	c.4921A>G	c.(4921-4923)Agc>Ggc	p.S1641G		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1641							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATTGCTGCTGAGGGATGGC	0.667000													24	50					0	0	0.116897	0	0
LRRC36	55282	broad.mit.edu	37	16	67401279	67401279	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:67401279G>A	ENST00000329956.6	+	8	1133	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	LRRC36_ENST00000290940.7_Missense_Mutation_p.A104T|LRRC36_ENST00000563189.1_Missense_Mutation_p.A251T|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.A251T	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	372										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AAAGACCACCGCTTCACATTC	0.433000													31	175					0	0	0.074837	0	0
MEP1B	4225	broad.mit.edu	37	18	29795168	29795168	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:29795168T>A	ENST00000269202.6	+	12	1750	c.1703T>A	c.(1702-1704)cTg>cAg	p.L568Q	MEP1B_ENST00000581447.1_Missense_Mutation_p.L568Q	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	568	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CACGAAAGGCTGAAAAGCAGA	0.368000													9	20					0	0	0.105934	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131796570	131796570	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:131796570G>A	ENST00000392953.3	+	6	1231	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ARHGEF4_ENST00000326016.5_Missense_Mutation_p.D238N|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.D238N|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.D238N|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.D167N	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	238	SH3.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	p.D238Y(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCGGGTCGCCGATGGCGAGGG	0.592000													4	37					0	0	0.021553	0	0
GABRB3	2562	broad.mit.edu	37	15	26806080	26806080	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:26806080C>A	ENST00000541819.2	-	9	1349	c.1248_splice	c.e9+1	p.R416_splice	GABRB3_ENST00000299267.4_Splice_Site_p.R360_splice|GABRB3_ENST00000311550.5_Splice_Site_p.R360_splice|GABRB3_ENST00000400188.3_Splice_Site_p.R289_splice|GABRB3_ENST00000545868.1_Splice_Site_p.R275_splice			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	360					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			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)	AGAGCCTACCCGGTTGCTTTC	0.478000													47	76					1.77205e-36	2.89065e-36	0.139131	1	0
KYNU	8942	broad.mit.edu	37	2	143742741	143742741	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:143742741G>T	ENST00000264170.4	+	9	1076	c.818G>T	c.(817-819)tGt>tTt	p.C273F	KYNU_ENST00000375773.2_Missense_Mutation_p.C273F|KYNU_ENST00000409512.1_Missense_Mutation_p.C273F	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	273					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GCCTGCTGGTGTTCCTACAAG	0.398000													12	94					2.32078e-09	2.85719e-09	0.132662	1	0
MRPL10	124995	broad.mit.edu	37	17	45904124	45904124	+	Silent	SNP	A	A	G	rs141494672		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:45904124A>G	ENST00000290208.7	-	4	893	c.441T>C	c.(439-441)gaT>gaC	p.D147D	MRPL10_ENST00000414011.1_Silent_p.D147D|MRPL10_ENST00000351111.2_Silent_p.D137D			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	137					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGTACTTGGAATCCTCCAGGA	0.532000													4	71					0	0	0.021553	0	0
CPT1C	126129	broad.mit.edu	37	19	50195610	50195610	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:50195610C>G	ENST00000392518.4	+	3	473	c.101C>G	c.(100-102)tCt>tGt	p.S34C	CPT1C_ENST00000598714.1_3'UTR|CPT1C_ENST00000405931.2_Missense_Mutation_p.S34C|CPT1C_ENST00000323446.5_Missense_Mutation_p.S34C|CPT1C_ENST00000598293.1_Missense_Mutation_p.S34C|CPT1C_ENST00000354199.5_Missense_Mutation_p.S34C	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	34					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATCTACCTCTCTGGCCTGCGC	0.622000													12	60					0	0	0.132662	0	0
MRPL22	29093	broad.mit.edu	37	5	154346360	154346360	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:154346360G>T	ENST00000523037.1	+	7	565	c.524G>T	c.(523-525)gGg>gTg	p.G175V	MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000265229.8_Missense_Mutation_p.G95V|MRPL22_ENST00000439747.3_Missense_Mutation_p.G201V|MRPL22_ENST00000522038.1_Missense_Mutation_p.G181V	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	175					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGGTGGAAGGGCCCCCACCT	0.537000													9	35					1.58986e-06	1.81798e-06	0.069234	1	0
KRT36	8689	broad.mit.edu	37	17	39642635	39642635	+	Missense_Mutation	SNP	G	G	T	rs148487920		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:39642635G>T	ENST00000393986.2	-	8	1459	c.1247C>A	c.(1246-1248)cCg>cAg	p.P416Q	KRT36_ENST00000328119.6_Missense_Mutation_p.P466Q			O76013	KRT36_HUMAN	keratin 36	466	Tail.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTGTCACAGCGGGCGGGACTG	0.637000													7	48					8.12818e-05	8.88568e-05	0.029380	1	0
OTOP2	92736	broad.mit.edu	37	17	72926928	72926928	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:72926928G>A	ENST00000331427.4	+	6	1290	c.1198G>A	c.(1198-1200)Gca>Aca	p.A400T	OTOP2_ENST00000580223.1_Missense_Mutation_p.A400T	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	400						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GGACCTGCTGGCAGGGCTCAA	0.622000													21	72					0	0	0.062417	0	0
MASP1	5648	broad.mit.edu	37	3	186969535	186969535	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:186969535C>T	ENST00000337774.5	-	7	1287	c.898G>A	c.(898-900)Gag>Aag	p.E300K	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.E300K|MASP1_ENST00000392470.2_Missense_Mutation_p.E274K|MASP1_ENST00000392472.2_Missense_Mutation_p.E187K|MASP1_ENST00000169293.6_Missense_Mutation_p.E300K	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	300	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTGGGCACTCATTTCCTGGT	0.493000													8	65					0	0	0.058154	0	0
FZD3	7976	broad.mit.edu	37	8	28378250	28378250	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:28378250C>G	ENST00000240093.3	+	4	763	c.285C>G	c.(283-285)gtC>gtG	p.V95V	FZD3_ENST00000537916.1_Silent_p.V95V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	95	FZ.				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGGACGTGTCACACTTCCCT	0.488000													48	133					0	0	0.139131	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281711	140281711	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:140281711G>T	ENST00000458420.3	+	14	2461	c.2271G>T	c.(2269-2271)tgG>tgT	p.W757C		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	757					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACCGCAACTGGCGTCCGGCTT	0.562000										HNSCC(16;0.037)			14	48					0.0202918	0.0208922	0.119110	1	0
MYEF2	50804	broad.mit.edu	37	15	48459593	48459593	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:48459593C>G	ENST00000324324.7	-	3	655	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	MYEF2_ENST00000267836.6_Missense_Mutation_p.E126Q	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	126	RRM 1.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TATGTAACCTCACCAACTACA	0.403000													3	56					0	0	0.021553	0	0
TCEB3	6924	broad.mit.edu	37	1	24077613	24077613	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:24077613A>C	ENST00000418390.2	+	4	867	c.596A>C	c.(595-597)gAt>gCt	p.D199A		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	199					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAGTCTTCTGATTATGGCCAT	0.493000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	131					0	0	0.139131	0	0
TMLHE	55217	broad.mit.edu	37	X	154736707	154736707	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:154736707G>T	ENST00000334398.3	-	6	992	c.847C>A	c.(847-849)Caa>Aaa	p.Q283K	TMLHE_ENST00000369439.4_Missense_Mutation_p.Q283K|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	283					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGTGCCTTTTGAAGTACCTGT	0.408000													5	98					0.000602214	0.000643513	0.014758	1	0
HS3ST5	222537	broad.mit.edu	37	6	114378531	114378531	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:114378531G>T	ENST00000312719.5	-	5	2119	c.931C>A	c.(931-933)Cgc>Agc	p.R311S	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R311S|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	311					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.R311C(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGATGAATGCGCCCCTTGCTG	0.398000													28	47					6.07407e-21	9.09804e-21	0.125774	1	0
ALPP	250	broad.mit.edu	37	2	233245181	233245181	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:233245181C>A	ENST00000392027.2	+	7	1113	c.844C>A	c.(844-846)Ccg>Acg	p.P282T	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	282						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TTCCCTGGACCCGTCTGTGAC	0.637000													22	91					8.4185e-14	1.13699e-13	0.163468	1	0
ESRP1	54845	broad.mit.edu	37	8	95690505	95690505	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:95690505T>C	ENST00000433389.2	+	13	1916	c.1726T>C	c.(1726-1728)Tct>Cct	p.S576P	ESRP1_ENST00000358397.5_Missense_Mutation_p.S572P|ESRP1_ENST00000423620.2_Missense_Mutation_p.S572P|ESRP1_ENST00000454170.2_Missense_Mutation_p.S576P	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	576					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TTACCAGCCCTCTGTGATTTT	0.502000													15	28					0	0	0.175082	0	0
CDH18	1016	broad.mit.edu	37	5	19544062	19544062	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:19544062T>A	ENST00000507958.1	-	11	2296	c.1306A>T	c.(1306-1308)Aat>Tat	p.N436Y	CDH18_ENST00000502796.1_Missense_Mutation_p.N436Y|CDH18_ENST00000382275.1_Missense_Mutation_p.N436Y|CDH18_ENST00000511273.1_Missense_Mutation_p.N436Y|CDH18_ENST00000506372.1_Missense_Mutation_p.N436Y|CDH18_ENST00000274170.4_Missense_Mutation_p.N436Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	436	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTCCCAGTATTGGCATCAATG	0.343000													17	16					0	0	0.175082	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84563413	84563413	+	Splice_Site	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:84563413G>T	ENST00000369689.1	+	2	246		c.e2-1		RIPPLY2_ENST00000369687.1_5'UTR	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2						somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						CTATCCCGCAGATACGCAGGC	0.672000													8	4					9.31168e-06	1.04307e-05	0.105934	1	0
ZIC3	7547	broad.mit.edu	37	X	136649620	136649620	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:136649620A>G	ENST00000287538.5	+	1	1320	c.770A>G	c.(769-771)gAc>gGc	p.D257G	ZIC3_ENST00000370606.3_Missense_Mutation_p.D257G	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	257					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AAGTGGATCGACGAGGCTCAG	0.622000													10	56					0	0	0.093190	0	0
ANKRD11	29123	broad.mit.edu	37	16	89352509	89352509	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:89352509G>A	ENST00000301030.4	-	8	1290	c.830C>T	c.(829-831)cCc>cTc	p.P277L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P277L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	277						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACCATCGTGGGGGAGTTGGC	0.577000													48	121					0	0	0.139131	0	0
CHRNG	1146	broad.mit.edu	37	2	233409292	233409292	+	Splice_Site	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:233409292T>G	ENST00000389494.3	+	10	1270		c.e10+2		CHRNG_ENST00000389492.3_Splice_Site	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)						muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		AGAAGCTAGGTGAGACACACC	0.662000													7	29					0	0	0.047766	0	0
ASAH2	56624	broad.mit.edu	37	10	52005175	52005175	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:52005175G>T	ENST00000395526.3	-	2	166	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	ASAH2_ENST00000447815.1_Missense_Mutation_p.P56Q|ASAH2_ENST00000329428.6_Missense_Mutation_p.P37Q	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	56					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						CTGGGTGGCTGGAGGGCTTTG	0.488000													5	13					0.000602214	0.000643513	0.014758	1	0
LYZL6	57151	broad.mit.edu	37	17	34264792	34264792	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:34264792A>G	ENST00000585556.1	-	3	602	c.268T>C	c.(268-270)Tcg>Ccg	p.S90P	LYZL6_ENST00000293274.4_Missense_Mutation_p.S90P|LYZL6_ENST00000394523.3_Missense_Mutation_p.S90P			O75951	LYZL6_HUMAN	lysozyme-like 6	90					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTTTTCCGAGTAACTCTTA	0.483000													5	91					0	0	0.021553	0	0
DSE	29940	broad.mit.edu	37	6	116747753	116747753	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:116747753C>T	ENST00000331677.3	+	4	877	c.433C>T	c.(433-435)Cct>Tct	p.P145S	DSE_ENST00000537543.1_Missense_Mutation_p.P164S|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.P145S|DSE_ENST00000452085.3_Missense_Mutation_p.P145S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	145					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GAAAGATGCTCCTTGGGATGA	0.433000													34	44					0	0	0.080422	0	0
CD300E	342510	broad.mit.edu	37	17	72613365	72613365	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:72613365G>C	ENST00000392619.1	-	2	396	c.361C>G	c.(361-363)Ctc>Gtc	p.L121V	CD300E_ENST00000328630.3_Missense_Mutation_p.L94V|CD300E_ENST00000426295.2_Missense_Mutation_p.L135V	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	94						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTTCATTGAGGTTCTGCATG	0.537000													52	87					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179638309	179638309	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179638309G>C	ENST00000589042.1	-	32	7698	c.7474C>G	c.(7474-7476)Cag>Gag	p.Q2492E	TTN_ENST00000342992.6_Missense_Mutation_p.Q2492E|TTN_ENST00000342175.6_Missense_Mutation_p.Q2446E|TTN_ENST00000359218.5_Missense_Mutation_p.Q2446E|TTN_ENST00000591111.1_Missense_Mutation_p.Q2492E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q2446E|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q2492E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2221	Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAATGGCCTGTACACGGTCA	0.443000													13	98					0	0	0.132662	0	0
ZNF358	140467	broad.mit.edu	37	19	7585782	7585782	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:7585782G>T	ENST00000597229.1	+	2	1824	c.1654G>T	c.(1654-1656)Gag>Tag	p.E552*	ZNF358_ENST00000394341.2_Nonsense_Mutation_p.E552*	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	552					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCCTACCGGCGAGAGTCCAGA	0.652000													18	79					2.94398e-08	3.51661e-08	0.043863	1	0
DYSF	8291	broad.mit.edu	37	2	71892384	71892384	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:71892384G>C	ENST00000258104.3	+	46	5427	c.5150G>C	c.(5149-5151)cGg>cCg	p.R1717P	DYSF_ENST00000429174.2_Missense_Mutation_p.R1738P|DYSF_ENST00000410020.3_Missense_Mutation_p.R1756P|DYSF_ENST00000409762.1_Missense_Mutation_p.R1734P|DYSF_ENST00000409651.1_Missense_Mutation_p.R1749P|DYSF_ENST00000409366.1_Missense_Mutation_p.R1739P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.R1748P|DYSF_ENST00000409582.3_Missense_Mutation_p.R1755P|DYSF_ENST00000410041.1_Missense_Mutation_p.R1735P|DYSF_ENST00000394120.2_Missense_Mutation_p.R1718P|DYSF_ENST00000409744.1_Missense_Mutation_p.R1725P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1717						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTGTGTACCGGACAGACCGT	0.562000													35	105					0	0	0.086207	0	0
TRPM1	4308	broad.mit.edu	37	15	31319284	31319284	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:31319284C>A	ENST00000542188.1	-	25	3694	c.3381G>T	c.(3379-3381)caG>caT	p.Q1127H	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q1088H|TRPM1_ENST00000256552.6_Missense_Mutation_p.Q1110H|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1088					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTTCCACACCTGGTTGGATA	0.368000													20	32					1.55469e-16	2.19635e-16	0.083992	1	0
CD70	970	broad.mit.edu	37	19	6590933	6590933	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:6590933G>T	ENST00000245903.3	-	1	230	c.81C>A	c.(79-81)gtC>gtA	p.V27V	CD70_ENST00000423145.3_Silent_p.V27V	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	27					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						CCAAGCCCGCGACCAATGGGA	0.662000													12	70					2.32078e-09	2.85719e-09	0.132662	1	0
DOCK11	139818	broad.mit.edu	37	X	117733145	117733145	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:117733145A>T	ENST00000276204.6	+	23	2590	c.2516A>T	c.(2515-2517)cAg>cTg	p.Q839L	DOCK11_ENST00000276202.7_Missense_Mutation_p.Q839L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	839	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGCTGATTCAGTCAGGCTCG	0.393000													22	30					0	0	0.108266	0	0
RGS11	8786	broad.mit.edu	37	16	321090	321090	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:321090G>T	ENST00000397770.3	-	13	889	c.872C>A	c.(871-873)gCc>gAc	p.A291D	RGS11_ENST00000359740.5_Missense_Mutation_p.A280D|RGS11_ENST00000316163.5_Missense_Mutation_p.A270D|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	291					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTTCGTGGGGGCAGCCACCCT	0.701000													4	19					0.00116845	0.00123467	0.021553	1	0
CNTN4	152330	broad.mit.edu	37	3	2924894	2924894	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:2924894G>A	ENST00000397461.1	+	8	1102	c.718G>A	c.(718-720)Gga>Aga	p.G240R	CNTN4_ENST00000427331.1_Missense_Mutation_p.G240R|CNTN4_ENST00000358480.3_Missense_Mutation_p.G21R|CNTN4_ENST00000418658.1_Missense_Mutation_p.G240R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	240	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GACTGCAAAAGGAGCAACGGT	0.438000													17	12					0	0	0.049695	0	0
DST	667	broad.mit.edu	37	6	56483848	56483848	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:56483848C>G	ENST00000370765.6	-	23	5091	c.4984G>C	c.(4984-4986)Gaa>Caa	p.E1662Q	DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1018					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTTAAATTCACTTACCAAA	0.343000													9	54					0	0	0.069234	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537381	5537381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:5537381G>C	ENST00000380184.1	-	1	554	c.291C>G	c.(289-291)taC>taG	p.Y97*	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	97	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGATGACCAAGTAGATGGTGT	0.537000													60	24					0	0	0.139131	0	0
PDPK1	5170	broad.mit.edu	37	16	2647754	2647754	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:2647754G>C	ENST00000342085.4	+	14	1806	c.1657G>C	c.(1657-1659)Gcc>Ccc	p.A553P	PDPK1_ENST00000354836.5_Missense_Mutation_p.A529P|PDPK1_ENST00000389224.3_Missense_Mutation_p.A526P|PDPK1_ENST00000268673.7_Missense_Mutation_p.A426P|PDPK1_ENST00000441549.3_3'UTR	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	553					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CCACCCGGACGCCGCTGTGCA	0.657000													7	35					0	0	0.069234	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36288223	36288223	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:36288223C>G	ENST00000539424.1	+	2	1734	c.69C>G	c.(67-69)ccC>ccG	p.P23P	TBC1D3F_ENST00000505415.1_Silent_p.P103P|TBC1D3F_ENST00000378174.5_Silent_p.P103P|TBC1D3F_ENST00000327454.6_Silent_p.P103P			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	103						intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						AGGGAATGCCCATGAACATCC	0.567000													77	706					0	0	0.139131	0	0
TRIML1	339976	broad.mit.edu	37	4	189063430	189063430	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:189063430G>A	ENST00000332517.3	+	3	669	c.529G>A	c.(529-531)Gtt>Att	p.V177I	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	177					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TTGTAAACAGGTTGTTGTGTC	0.433000													35	13					0	0	0.086207	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984910	140984910	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:140984910C>A	ENST00000298296.1	+	7	1366	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	MAGEC3_ENST00000443323.2_Missense_Mutation_p.L78M|MAGEC3_ENST00000409007.1_Missense_Mutation_p.L158M|MAGEC3_ENST00000544766.1_Missense_Mutation_p.L158M|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000536088.1_Missense_Mutation_p.L158M	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	456	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTATGCCCTGGATGAAAA	0.483000													4	42					0.00909568	0.00942988	0.150653	1	0
IQGAP3	128239	broad.mit.edu	37	1	156507059	156507059	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156507059C>G	ENST00000361170.2	-	27	3346	c.3336G>C	c.(3334-3336)caG>caC	p.Q1112H	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1112	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGTCGTCTCTGGACCTCGG	0.552000													9	70					0	0	0.047766	0	0
UNC80	285175	broad.mit.edu	37	2	210642157	210642157	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:210642157A>T	ENST00000439458.1	+	4	554	c.474A>T	c.(472-474)ccA>ccT	p.P158P	UNC80_ENST00000272845.5_Silent_p.P158P|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	158						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGGGTTCTCCAGGGCAGCCTT	0.527000													31	25					0	0	0.144211	0	0
BCL11B	64919	broad.mit.edu	37	14	99640725	99640725	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:99640725C>A	ENST00000345514.2	-	3	2501	c.2235G>T	c.(2233-2235)cgG>cgT	p.R745R	BCL11B_ENST00000357195.3_Silent_p.R816R|BCL11B_ENST00000443726.2_Silent_p.R622R	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	816						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGGTGTGGCTCCGCCGGTGCA	0.672000			T	TLX3	T-ALL								21	19					4.26978e-12	5.58602e-12	0.083992	1	0
OR5T2	219464	broad.mit.edu	37	11	56000397	56000397	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:56000397T>A	ENST00000313264.4	-	1	340	c.265A>T	c.(265-267)Att>Ttt	p.I89F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAATCCCTAATGACCACTAAA	0.403000													6	33					0	0	0.080935	0	0
SLC35G6	643664	broad.mit.edu	37	17	7385378	7385378	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7385378C>A	ENST00000412468.2	+	2	190	c.75C>A	c.(73-75)ctC>ctA	p.L25L	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	25						integral to membrane											CACCCAGCCTCCGCTGGCACC	0.667000													13	66					1.62849e-17	2.31627e-17	0.146539	1	0
FAM65A	79567	broad.mit.edu	37	16	67576587	67576587	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:67576587C>A	ENST00000540839.3	+	14	2178	c.1958C>A	c.(1957-1959)aCc>aAc	p.T653N	FAM65A_ENST00000379312.3_Missense_Mutation_p.T637N|FAM65A_ENST00000422602.2_Missense_Mutation_p.T653N|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.T647N|FAM65A_ENST00000042381.4_Missense_Mutation_p.T633N			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	637	Pro-rich.			G -> S (in Ref. 1; BAB14678).		cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ACCCACAAAACCAGTATGTCA	0.582000													69	122					2.08929e-35	3.39225e-35	0.139131	1	0
MMRN1	22915	broad.mit.edu	37	4	90856810	90856810	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:90856810G>T	ENST00000394980.1	+	7	2298	c.1979G>T	c.(1978-1980)aGa>aTa	p.R660I	MMRN1_ENST00000264790.2_Missense_Mutation_p.R660I|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.R402I			Q13201	MMRN1_HUMAN	multimerin 1	660					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GCATCACTCAGACAGACAATG	0.358000													47	18					1.22102e-19	1.80558e-19	0.139131	1	0
C6orf222	389384	broad.mit.edu	37	6	36294441	36294441	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:36294441C>G	ENST00000437635.2	-	5	1059	c.882G>C	c.(880-882)aaG>aaC	p.K294N		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	294										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TTGAGGTTCTCTTGAGGCTTG	0.567000													32	270					0	0	0.173368	0	0
STK11IP	114790	broad.mit.edu	37	2	220473406	220473406	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:220473406G>A	ENST00000456909.1	+	15	1795	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M	STK11IP_ENST00000295641.10_Missense_Mutation_p.V580M			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	580	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGTTTGAGGTGGAACTCCA	0.642000													7	25					0	0	0.038147	0	0
PIH1D2	120379	broad.mit.edu	37	11	111943723	111943723	+	Splice_Site	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:111943723A>T	ENST00000530641.1	-	2	501	c.177_splice	c.e2+1	p.L59_splice	PIH1D2_ENST00000532211.1_Splice_Site_p.L59_splice|PIH1D2_ENST00000528775.1_Splice_Site_p.L59_splice|PIH1D2_ENST00000280350.4_Splice_Site_p.L59_splice|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000431456.1_Splice_Site_p.L59_splice			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	59										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TCGACATACCAGAATCCTGGT	0.453000													29	25					0	0	0.074837	0	0
KCNG4	93107	broad.mit.edu	37	16	84270421	84270421	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:84270421G>C	ENST00000568181.1	-	2	791	c.671C>G	c.(670-672)gCt>gGt	p.A224G	KCNG4_ENST00000308251.4_Missense_Mutation_p.A224G			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	224						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGAGAGGCAAGCGAAGACCTT	0.682000													15	63					0	0	0.049695	0	0
CHRM2	1129	broad.mit.edu	37	7	136700405	136700405	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:136700405G>T	ENST00000445907.2	+	3	1321	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A265S|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A265S|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A265S|CHRM2_ENST00000402486.3_Missense_Mutation_p.A265S|CHRM2_ENST00000453373.1_Missense_Mutation_p.A265S|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	265					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GAATGGCAAAGCCCCCAGGGA	0.493000													17	19					6.94344e-10	8.63999e-10	0.175082	1	0
PAN2	9924	broad.mit.edu	37	12	56712162	56712162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:56712162G>A	ENST00000425394.2	-	25	3809	c.3433C>T	c.(3433-3435)Cag>Tag	p.Q1145*	PAN2_ENST00000548043.1_Nonsense_Mutation_p.Q1145*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.Q1144*|PAN2_ENST00000440411.3_Nonsense_Mutation_p.Q1141*|PAN2_ENST00000549090.1_5'UTR	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1145	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CGGTACAGCTGAAGGGCTGTG	0.493000													19	153					0	0	0.076483	0	0
GLYR1	84656	broad.mit.edu	37	16	4882010	4882010	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:4882010C>T	ENST00000321919.9	-	5	583	c.507G>A	c.(505-507)cgG>cgA	p.R169R	GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000381983.3_Silent_p.R169R|GLYR1_ENST00000591451.1_Silent_p.R169R	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	169					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GACCCCGCTTCCGGGGACTTT	0.498000													9	50					0	0	0.058154	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075039	100075039	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:100075039C>G	ENST00000300181.2	-	2	1377	c.623G>C	c.(622-624)cGg>cCg	p.R208P	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	208					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGTGGCAGCCCGGGATGTGCC	0.692000													9	8					0	0	0.047766	0	0
ADAM17	6868	broad.mit.edu	37	2	9676042	9676042	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:9676042T>A	ENST00000310823.3	-	4	553	c.371A>T	c.(370-372)gAc>gTc	p.D124V	ADAM17_ENST00000497134.1_Missense_Mutation_p.D124V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	124					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AACCCTAGAGTCAGGCTCACC	0.299000													4	37					0	0	0.150653	0	0
ERBB4	2066	broad.mit.edu	37	2	212568860	212568860	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:212568860G>T	ENST00000342788.4	-	11	1568	c.1258C>A	c.(1258-1260)Ctg>Atg	p.L420M	ERBB4_ENST00000402597.1_Missense_Mutation_p.L420M|ERBB4_ENST00000436443.1_Missense_Mutation_p.L420M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	420					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGGTCACCAGGTTAGAAAAA	0.393000										TSP Lung(8;0.080)			9	90					9.05144e-12	1.17827e-11	0.105934	1	0
NDST4	64579	broad.mit.edu	37	4	115997976	115997976	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:115997976T>G	ENST00000264363.2	-	2	895	c.217A>C	c.(217-219)Aca>Cca	p.T73P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	73	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTTTTGGATGTGTCAATAGGT	0.418000													49	25					0	0	0.139131	0	0
RNASE10	338879	broad.mit.edu	37	14	20979113	20979113	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:20979113C>G	ENST00000430083.1	+	2	971	c.567C>G	c.(565-567)ctC>ctG	p.L189L	RNASE10_ENST00000328444.5_Silent_p.L161L			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	161						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CCTGTGAGCTCAAGGGGGGAA	0.478000													12	40					0	0	0.132662	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028237	21028237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:21028237G>T	ENST00000381545.3	+	9	1015	c.796G>T	c.(796-798)Gga>Tga	p.G266*	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.G266*|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Nonsense_Mutation_p.G266*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.G266*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	266					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCTTGTGTCTGGACTATTTTC	0.373000													100	24					2.12867e-53	3.58441e-53	0.139131	1	0
FAM135B	51059	broad.mit.edu	37	8	139144932	139144932	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:139144932G>C	ENST00000395297.1	-	20	4295	c.4125C>G	c.(4123-4125)aaC>aaG	p.N1375K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1375										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGATCAGGGTGTTGGCAGTGT	0.532000										HNSCC(54;0.14)			50	164					0	0	0.139131	0	0
TPD52	7163	broad.mit.edu	37	8	80976712	80976712	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:80976712C>A	ENST00000379096.5	-	2	250		c.e2+1		TPD52_ENST00000379097.3_Splice_Site|TPD52_ENST00000519303.2_Splice_Site|TPD52_ENST00000448733.2_Splice_Site|TPD52_ENST00000517427.1_Splice_Site|TPD52_ENST00000518937.1_Splice_Site|TPD52_ENST00000520527.1_Splice_Site|TPD52_ENST00000537855.1_Splice_Site	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52						anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TGGTTCTTTACCTTTGCAAGT	0.428000													17	47					1.02788e-11	1.33471e-11	0.160694	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48141561	48141561	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:48141561G>A	ENST00000405493.2	-	14	1490	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	RAPGEF3_ENST00000395358.3_Silent_p.V469V|RAPGEF3_ENST00000171000.4_Silent_p.V427V|RAPGEF3_ENST00000389212.3_Silent_p.V469V|RAPGEF3_ENST00000548919.1_Silent_p.V427V|RAPGEF3_ENST00000549151.1_Silent_p.V427V|RAPGEF3_ENST00000449771.2_Silent_p.V469V	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	427					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCCACTGGCTGACCAGCCGCA	0.647000													6	34					0	0	0.029380	0	0
POTEC	388468	broad.mit.edu	37	18	14513693	14513693	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:14513693T>G	ENST00000358970.5	-	10	1500	c.1501A>C	c.(1501-1503)Ata>Cta	p.I501L		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	501										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCCACTTCTATCTGCTTTTGT	0.299000													16	134					0	0	0.049695	0	0
KIF4A	24137	broad.mit.edu	37	X	69623835	69623835	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:69623835C>A	ENST00000374403.3	+	24	2823	c.2741C>A	c.(2740-2742)aCa>aAa	p.T914K	KIF4A_ENST00000374388.3_Missense_Mutation_p.T914K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	914	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAGATAGAGACAGAGTTACAA	0.448000													12	55					3.27435e-08	3.90231e-08	0.119110	1	0
QARS	5859	broad.mit.edu	37	3	49138787	49138787	+	Splice_Site	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:49138787C>T	ENST00000306125.6	-	10	1214		c.e10+1		QARS_ENST00000470225.1_Splice_Site|QARS_ENST00000420147.2_Splice_Site|QARS_ENST00000414533.1_Splice_Site			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase						glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CACATGCTTACCTTGGCATAG	0.493000													27	37					0	0	0.153744	0	0
DDR2	4921	broad.mit.edu	37	1	162740159	162740159	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:162740159T>A	ENST00000367922.2	+	13	1799	c.1361T>A	c.(1360-1362)tTc>tAc	p.F454Y	DDR2_ENST00000367921.3_Missense_Mutation_p.F454Y	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	454					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCTAGCATGTTCAACAATAAC	0.512000													87	111					0	0	0.139131	0	0
ASB5	140458	broad.mit.edu	37	4	177190244	177190244	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:177190244C>T	ENST00000296525.3	-	1	129	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	6					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGCCGATTTTCTTCTAACACC	0.453000													10	75					0	0	0.080935	0	0
ZNF440	126070	broad.mit.edu	37	19	11943217	11943217	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:11943217C>G	ENST00000304060.5	+	4	1390	c.1226C>G	c.(1225-1227)tCa>tGa	p.S409*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGATCTGCCTCACACCTTCGA	0.458000													19	75					0	0	0.083992	0	0
RRAGB	10325	broad.mit.edu	37	X	55784772	55784772	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:55784772G>C	ENST00000374941.4	+	10	1626	c.1037G>C	c.(1036-1038)cGc>cCc	p.R346P	RRAGB_ENST00000262850.7_Missense_Mutation_p.R374P	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	374					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CTTCTCATGCGCTAAACATTG	0.383000													7	34					0	0	0.029380	0	0
CD6	923	broad.mit.edu	37	11	60777208	60777208	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:60777208A>T	ENST00000313421.7	+	5	1132	c.946A>T	c.(946-948)Aag>Tag	p.K316*	CD6_ENST00000452451.2_Nonsense_Mutation_p.K316*|CD6_ENST00000545105.1_Intron|CD6_ENST00000344028.5_Nonsense_Mutation_p.K316*|CD6_ENST00000352009.5_Nonsense_Mutation_p.K316*|CD6_ENST00000346437.4_Nonsense_Mutation_p.K316*	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	316	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TGAGAGGCCCAAGGGGCTGCC	0.602000													14	56					0	0	0.146539	0	0
OR2M7	391196	broad.mit.edu	37	1	248487103	248487103	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:248487103C>A	ENST00000317965.2	-	1	796	c.768G>T	c.(766-768)ttG>ttT	p.L256F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCACATGAACAAACCTGCTC	0.473000													15	96					2.4624e-09	3.02085e-09	0.049695	1	0
SSBP3	23648	broad.mit.edu	37	1	54722799	54722799	+	Splice_Site	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:54722799C>A	ENST00000371320.3	-	7	918		c.e7+1		SSBP3_ENST00000326956.7_Splice_Site|SSBP3_ENST00000357475.4_Intron|SSBP3_ENST00000371319.3_Splice_Site|SSBP3_ENST00000417664.2_Splice_Site	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						AGGTACAGTACCTGGTTTCCC	0.512000													9	14					9.31168e-06	1.04307e-05	0.105934	1	0
CACNA1E	777	broad.mit.edu	37	1	181767606	181767606	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:181767606C>G	ENST00000526775.1	+	46	6557	c.6392C>G	c.(6391-6393)tCc>tGc	p.S2131C	CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2150C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2174C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1757C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2193C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2082C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2144C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2193					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGGAGGGCTCCCCGCTGACC	0.647000													11	60					0	0	0.069234	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236708	33236708	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:33236708C>G	ENST00000401073.2	+	6	1998	c.1928C>G	c.(1927-1929)tCa>tGa	p.S643*	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.S595*|KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.S584*	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	584	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGCCCCCTCAGACCGCTCT	0.622000													20	160					0	0	0.099896	0	0
TECPR1	25851	broad.mit.edu	37	7	97862844	97862844	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:97862844C>A	ENST00000447648.2	-	11	1860	c.1561G>T	c.(1561-1563)Ggc>Tgc	p.G521C	TECPR1_ENST00000542604.1_Missense_Mutation_p.G451C|TECPR1_ENST00000379795.3_Missense_Mutation_p.G521C			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	521						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCTCCAAGCCCAGTGGGAGG	0.652000													4	5					0.150653	0.152701	0.150653	1	0
RGS18	64407	broad.mit.edu	37	1	192127878	192127878	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:192127878C>A	ENST00000367460.3	+	1	292	c.111C>A	c.(109-111)gcC>gcA	p.A37A	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	37					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAAAGAAGCCAAAATCAGGT	0.289000													21	39					6.32553e-13	8.40185e-13	0.099896	1	0
ZNF343	79175	broad.mit.edu	37	20	2463909	2463909	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:2463909G>A	ENST00000278772.4	-	6	2185	c.1698C>T	c.(1696-1698)gtC>gtT	p.V566V	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCCTCTGGTGGACAAGGAGGA	0.507000													6	79					0	0	0.021553	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016288	38016288	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:38016288G>T	ENST00000261439.4	+	3	931	c.576G>T	c.(574-576)ctG>ctT	p.L192L	TBC1D1_ENST00000508802.1_Silent_p.L192L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	192						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGCCGGCCCTGATCGACGAGT	0.672000													57	97					2.50483e-33	4.01696e-33	0.139131	1	0
WNK1	65125	broad.mit.edu	37	12	977998	977998	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:977998G>T	ENST00000537687.1	+	9	3749	c.3106G>T	c.(3106-3108)Gag>Tag	p.E1036*	WNK1_ENST00000574564.1_Nonsense_Mutation_p.E335*|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Nonsense_Mutation_p.E1121*|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	792					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCTGTGGTAGAGCCTATCGG	0.473000													58	17					2.32099e-22	3.52196e-22	0.139131	1	0
SIGLEC15	284266	broad.mit.edu	37	18	43420203	43420203	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:43420203C>A	ENST00000389474.3	+	5	1119	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	SIGLEC15_ENST00000546268.1_Missense_Mutation_p.P147Q|SIGLEC15_ENST00000587418.1_Missense_Mutation_p.H71N|SIGLEC15_ENST00000602118.2_3'UTR	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	301						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GACACCCCACCACGGTAAGTG	0.637000													10	128					5.50884e-06	6.20413e-06	0.093190	1	0
GLRA2	2742	broad.mit.edu	37	X	14599452	14599452	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:14599452G>T	ENST00000218075.4	+	4	948	c.418G>T	c.(418-420)Gcc>Tcc	p.A140S	GLRA2_ENST00000355020.4_Missense_Mutation_p.A140S|GLRA2_ENST00000443437.2_Missense_Mutation_p.A51S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	140					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGAGAAGGGTGCCAACTTCCA	0.483000													49	56					4.09106e-26	6.38426e-26	0.139131	1	0
CCT6B	10693	broad.mit.edu	37	17	33259506	33259506	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:33259506A>T	ENST00000314144.5	-	11	1342	c.1227T>A	c.(1225-1227)ccT>ccA	p.P409P	CCT6B_ENST00000421975.3_Silent_p.P372P|CCT6B_ENST00000436961.3_Silent_p.P364P	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	409					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CACCAGCTCCAGGAACCATAC	0.398000													31	142					0	0	0.074837	0	0
CELSR3	1951	broad.mit.edu	37	3	48693266	48693266	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:48693266C>G	ENST00000544264.1	-	4	4924	c.4644G>C	c.(4642-4644)caG>caC	p.Q1548H	CELSR3_ENST00000164024.4_Missense_Mutation_p.Q1548H			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1548	Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCAGCCCGCTCTGCTGCACTG	0.652000													9	33					0	0	0.047766	0	0
ARID1B	57492	broad.mit.edu	37	6	157522225	157522225	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:157522225G>C	ENST00000346085.5	+	18	4498	c.4497G>C	c.(4495-4497)atG>atC	p.M1499I	ARID1B_ENST00000367148.1_Missense_Mutation_p.M1539I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1481I|ARID1B_ENST00000350026.5_Missense_Mutation_p.M1486I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1486	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGACGATATGATGGTACCCG	0.572000													19	52					0	0	0.055883	0	0
SLK	9748	broad.mit.edu	37	10	105779539	105779539	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:105779539G>C	ENST00000369755.3	+	16	3725	c.3180G>C	c.(3178-3180)ttG>ttC	p.L1060F	SLK_ENST00000335753.4_Missense_Mutation_p.L1029F	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1060					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGAGGAATTGAAAAACAGAC	0.393000													15	93					0	0	0.160694	0	0
NEDD4	4734	broad.mit.edu	37	15	56140574	56140574	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:56140574C>A	ENST00000508342.1	-	13	3094	c.2795G>T	c.(2794-2796)gGa>gTa	p.G932V	NEDD4_ENST00000435532.3_Missense_Mutation_p.G513V|NEDD4_ENST00000338963.2_Missense_Mutation_p.G860V|NEDD4_ENST00000506154.1_Missense_Mutation_p.G916V			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	932	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ACTTACTGGTCCAGTTATTGC	0.438000													72	175					6.20368e-34	1.00103e-33	0.139131	1	0
PRRT3	285368	broad.mit.edu	37	3	9991120	9991120	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:9991120C>A	ENST00000412055.1	-	2	809	c.680G>T	c.(679-681)gGt>gTt	p.G227V	PRRT3_ENST00000411976.2_Missense_Mutation_p.G227V|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	227						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTCAAACCCACCCTGTCCTTC	0.607000													27	28					4.87955e-14	6.60733e-14	0.108266	1	0
SLC7A4	6545	broad.mit.edu	37	22	21385388	21385388	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:21385388C>T	ENST00000382932.2	-	2	781	c.714G>A	c.(712-714)atG>atA	p.M238I	SLC7A4_ENST00000403586.1_Missense_Mutation_p.M238I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	238					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGTGCCGGCCATGACGCCGG	0.617000													8	17					0	0	0.047766	0	0
TRDMT1	1787	broad.mit.edu	37	10	17199678	17199678	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:17199678C>G	ENST00000377799.3	-	8	696	c.649G>C	c.(649-651)Gat>Cat	p.D217H	TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.D171H|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Missense_Mutation_p.D94H|TRDMT1_ENST00000412821.3_Missense_Mutation_p.D193H|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.D136H	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	217					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						ATGCTGCCATCAAAGCTAATA	0.343000													5	2					0	0	0.014758	0	0
ROBO3	64221	broad.mit.edu	37	11	124743218	124743218	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:124743218G>T	ENST00000397801.1	+	10	1741	c.1549G>T	c.(1549-1551)Ggc>Tgc	p.G517C	ROBO3_ENST00000538940.1_Missense_Mutation_p.G495C	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	517	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GATGGACATGGGCTTCTACAG	0.542000													4	11					0.00116845	0.00123467	0.021553	1	0
MYH11	4629	broad.mit.edu	37	16	15829353	15829353	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:15829353C>A	ENST00000338282.6	-	26	3482	c.3376G>T	c.(3376-3378)Gac>Tac	p.D1126Y	MYH11_ENST00000300036.5_Missense_Mutation_p.D1126Y|MYH11_ENST00000396324.3_Missense_Mutation_p.D1133Y|MYH11_ENST00000576790.1_Missense_Mutation_p.D1126Y|MYH11_ENST00000452625.2_Missense_Mutation_p.D1133Y	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1126					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGTCCAGGTCCTCCTGGAGG	0.582000			T	CBFB	AML								17	151					3.10358e-05	3.43599e-05	0.069288	1	0
OSBPL3	26031	broad.mit.edu	37	7	24846453	24846453	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:24846453C>G	ENST00000313367.2	-	21	2837	c.2386G>C	c.(2386-2388)Gat>Cat	p.D796H	OSBPL3_ENST00000353930.1_Missense_Mutation_p.D760H|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000431825.2_Missense_Mutation_p.D729H|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D765H|OSBPL3_ENST00000396429.1_Missense_Mutation_p.D760H|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D765H|OSBPL3_ENST00000409069.1_Missense_Mutation_p.D729H	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	796					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GATGATGGATCCATTTCATTT	0.383000													13	67					0	0	0.146539	0	0
HK3	3101	broad.mit.edu	37	5	176314064	176314064	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:176314064C>A	ENST00000292432.5	-	13	1887	c.1796G>T	c.(1795-1797)gGg>gTg	p.G599V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	599	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGCTCTGCCCGCTCAGGCC	0.607000													7	30					0.00307968	0.00323459	0.038147	1	0
KAT6B	23522	broad.mit.edu	37	10	76780503	76780503	+	Silent	SNP	G	G	C	rs140113295	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:76780503G>C	ENST00000287239.4	+	14	3282	c.2793G>C	c.(2791-2793)acG>acC	p.T931T	KAT6B_ENST00000372725.1_Silent_p.T639T|KAT6B_ENST00000372711.1_Silent_p.T748T|KAT6B_ENST00000372714.1_Silent_p.T639T|KAT6B_ENST00000372724.1_Silent_p.T639T|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.2_ENST00000413431.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	931	Catalytic.|Interaction with BRPF1.			TGM -> RHV (in Ref. 2; AAL56647).	histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GCAGAGCGACGGGCATGTGCC	0.567000													10	51					0	0	0.119110	0	0
OSBPL8	114882	broad.mit.edu	37	12	76786453	76786453	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:76786453C>T	ENST00000261183.3	-	10	1316	c.837G>A	c.(835-837)aaG>aaA	p.K279K	OSBPL8_ENST00000393249.2_Silent_p.K237K|OSBPL8_ENST00000393250.4_Silent_p.K237K	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	279					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GGTCATGTTCCTTTCCTTCTC	0.408000													10	69					0	0	0.080935	0	0
RNF123	63891	broad.mit.edu	37	3	49758500	49758500	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:49758500C>T	ENST00000327697.6	+	38	3930	c.3786C>T	c.(3784-3786)atC>atT	p.I1262I	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_3'UTR|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Silent_p.I374I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1262						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCACCCCATCTCTGCTGTGT	0.607000													16	85					0	0	0.069288	0	0
CBL	867	broad.mit.edu	37	11	119103165	119103165	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:119103165G>T	ENST00000264033.4	+	2	579	c.203G>T	c.(202-204)cGg>cTg	p.R68L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	68	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAGGTGGTGCGGTTGTGTCAG	0.408000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				5	41					2.0095e-06	2.28531e-06	0.029380	1	0
PLXNA4	91584	broad.mit.edu	37	7	131844347	131844347	+	Silent	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:131844347G>T	ENST00000359827.3	-	25	5507	c.4545C>A	c.(4543-4545)gtC>gtA	p.V1515V	PLXNA4_ENST00000321063.4_Silent_p.V1515V			Q9HCM2	PLXA4_HUMAN	plexin A4	1515						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTTTACTGGGACCTCGGGGC	0.532000													149	78					1.42266e-85	2.41899e-85	0.139131	1	0
SULT1E1	6783	broad.mit.edu	37	4	70720024	70720024	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:70720024G>T	ENST00000226444.3	-	4	392	c.280C>A	c.(280-282)Caa>Aaa	p.Q94K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	94					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCATCTAATTGTTTTACTCCT	0.303000													12	35					2.27111e-07	2.6433e-07	0.093190	1	0
ALPK2	115701	broad.mit.edu	37	18	56247148	56247148	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:56247148T>C	ENST00000361673.3	-	4	1073	c.860A>G	c.(859-861)gAc>gGc	p.D287G		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	287							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACGGCACTGTCACCTGGGTA	0.493000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	43					0	0	0.093190	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33891862	33891862	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:33891862G>T	ENST00000504830.1	-	1	435	c.100C>A	c.(100-102)Ccg>Acg	p.P34T	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P34T|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P34T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	34					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGCGAACCGGGCCTGGCTGA	0.527000										HNSCC(64;0.19)			77	48					9.37156e-40	1.54077e-39	0.139131	1	0
LRFN5	145581	broad.mit.edu	37	14	42360560	42360560	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:42360560C>A	ENST00000298119.4	+	4	2682	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	498	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACTTCCCTCACTGCCACAAGA	0.453000										HNSCC(30;0.082)			47	184					1.54886e-18	2.24585e-18	0.139131	1	0
RHBDL3	162494	broad.mit.edu	37	17	30648077	30648077	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:30648077C>A	ENST00000269051.4	+	9	1058	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	RHBDL3_ENST00000536287.1_Silent_p.A250A|RHBDL3_ENST00000538145.1_Silent_p.A340A	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	348					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GTGGCGTGGCCGTGGGCATCA	0.637000													47	50					1.4374e-25	2.23643e-25	0.139131	1	0
STRIP2	57464	broad.mit.edu	37	7	129120676	129120676	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:129120676C>G	ENST00000249344.2	+	19	2035	c.1995C>G	c.(1993-1995)atC>atG	p.I665M	STRIP2_ENST00000435494.2_Missense_Mutation_p.I665M	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TTTCCTGCATCAACCTCCTGA	0.433000													19	81					0	0	0.069288	0	0
TANC1	85461	broad.mit.edu	37	2	160007013	160007013	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:160007013G>A	ENST00000263635.6	+	7	865	c.628G>A	c.(628-630)Gag>Aag	p.E210K	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	210	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGTCCCTGTGAGACCATTAG	0.502000													11	87					0	0	0.080935	0	0
SRPX2	27286	broad.mit.edu	37	X	99901370	99901370	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:99901370A>G	ENST00000373004.3	+	2	479	c.51A>G	c.(49-51)ctA>ctG	p.L17L	SRPX2_ENST00000481988.1_3'UTR	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	17					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGTTCTTCCTAACTCCGGCAG	0.463000													5	94					0	0	0.021553	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681796	125681796	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:125681796C>T	ENST00000373656.3	-	2	491	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	ZBTB26_ENST00000373654.1_Missense_Mutation_p.E140K	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						CTCTGTGGTTCACATCCCTCT	0.468000													16	50					0	0	0.160694	0	0
PTH1R	5745	broad.mit.edu	37	3	46943287	46943287	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:46943287G>A	ENST00000449590.1	+	13	1351	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	PTH1R_ENST00000313049.5_Missense_Mutation_p.R383Q|PTH1R_ENST00000418619.1_Missense_Mutation_p.R383Q|PTH1R_ENST00000430002.2_Missense_Mutation_p.R383Q	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	383						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						AATATCGTCCGGGTGCTCGCC	0.662000													31	50					0	0	0.086207	0	0
SHROOM3	57619	broad.mit.edu	37	4	77357309	77357309	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:77357309G>A	ENST00000296043.6	+	1	1057	c.104G>A	c.(103-105)gGa>gAa	p.G35E		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	35	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTGGAGGGAGGAGCTCCCTGG	0.458000													34	263					0	0	0.104719	0	0
DUSP13	51207	broad.mit.edu	37	10	76861663	76861663	+	Silent	SNP	C	C	A	rs141678047	by1000genomes	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:76861663C>A	ENST00000491677.2	-	5	890	c.348G>T	c.(346-348)ccG>ccT	p.P116P	DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Silent_p.P80P|DUSP13_ENST00000607009.1_Intron	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P116P(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ACTTCTCTGACGGGCAGTTCG	0.512000													62	73					2.92363e-43	4.84488e-43	0.139131	1	0
PRICKLE3	4007	broad.mit.edu	37	X	49032082	49032082	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:49032082G>C	ENST00000376317.3	-	9	1882	c.1788C>G	c.(1786-1788)ccC>ccG	p.P596P	PRICKLE3_ENST00000540849.1_Silent_p.P528P|PRICKLE3_ENST00000538114.1_Silent_p.P420P|PRICKLE3_ENST00000536904.1_Silent_p.P515P	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	596							protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GAGAGTCCCTGGGGAGCGATA	0.612000													8	51					0	0	0.058154	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273784	18273784	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18273784G>A	ENST00000593731.1	+	10	1677	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R	PIK3R2_ENST00000222254.7_Missense_Mutation_p.G373R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	373	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	p.G373R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CAGGAAAGGCGGGAACAATAA	0.562000													11	94					0	0	0.119110	0	0
PITX1	5307	broad.mit.edu	37	5	134364727	134364727	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:134364727C>T	ENST00000265340.7	-	3	1103	c.687G>A	c.(685-687)atG>atA	p.M229I	PITX1_ENST00000506438.1_Missense_Mutation_p.M229I	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	229	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGCCTGGGCCCATGCTGGACG	0.627000													39	20					0	0	0.139131	0	0
NMRAL1	57407	broad.mit.edu	37	16	4511958	4511958	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:4511958C>T	ENST00000574733.1	-	6	1452	c.723G>A	c.(721-723)atG>atA	p.M241I	NMRAL1_ENST00000283429.6_Missense_Mutation_p.M241I|NMRAL1_ENST00000404295.3_Missense_Mutation_p.M241I|NMRAL1_ENST00000574425.1_Missense_Mutation_p.M241I			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	241						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCTCAGGAGTCATCTGGAAGC	0.652000													17	106					0	0	0.043863	0	0
PDCD11	22984	broad.mit.edu	37	10	105182844	105182844	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:105182844G>T	ENST00000369797.3	+	18	2691	c.2597G>T	c.(2596-2598)gGg>gTg	p.G866V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	866					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTATTCAGTGGGGGTCCAGTG	0.567000													24	38					3.7963e-18	5.47423e-18	0.083992	1	0
TP53	7157	broad.mit.edu	37	17	7578448	7578448	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:7578448G>A	ENST00000420246.2	-	5	614	c.482C>T	c.(481-483)gCc>gTc	p.A161V	TP53_ENST00000269305.4_Missense_Mutation_p.A161V|TP53_ENST00000455263.2_Missense_Mutation_p.A161V|TP53_ENST00000445888.2_Missense_Mutation_p.A161V|TP53_ENST00000359597.4_Missense_Mutation_p.A161V|TP53_ENST00000413465.2_Missense_Mutation_p.A161V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A161D(11)|p.0?(8)|p.A161V(8)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A29D(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S149fs*72(1)|p.V157_I162delVRAMAI(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.A161T(1)|p.A161fs*8(1)|p.I162fs*8(1)|p.A161F(1)|p.A161G(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CTTGTAGATGGCCATGGCGCG	0.627000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			35	35					0	0	0.139131	0	0
NUP210	23225	broad.mit.edu	37	3	13441297	13441297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:13441297G>A	ENST00000254508.5	-	2	314	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	78					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACTGCCTTCTGGGAGCACTGC	0.632000													46	53					0	0	0.139131	0	0
TRPS1	7227	broad.mit.edu	37	8	116616280	116616280	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:116616280A>C	ENST00000395715.3	-	4	2493	c.1916T>G	c.(1915-1917)gTa>gGa	p.V639G	TRPS1_ENST00000519674.1_Missense_Mutation_p.V626G|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.V630G|TRPS1_ENST00000220888.5_Missense_Mutation_p.V626G	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	626	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGTACATCTACGTCAGGGGT	0.517000									Langer-Giedion syndrome				10	24					0	0	0.093190	0	0
IPMK	253430	broad.mit.edu	37	10	59956230	59956230	+	Silent	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:59956230T>A	ENST00000373935.3	-	6	1180	c.858A>T	c.(856-858)acA>acT	p.T286T		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	286						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CTAGTACTTCTGTGTCTGACA	0.378000													12	19					0	0	0.093190	0	0
FAM47C	442444	broad.mit.edu	37	X	37028281	37028281	+	Nonsense_Mutation	SNP	G	G	T	rs145080907	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:37028281G>T	ENST00000358047.3	+	1	1850	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	600										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCCCCCGAGACTGGAGT	0.647000													28	35					9.8876e-21	1.47677e-20	0.074837	1	0
SULF2	55959	broad.mit.edu	37	20	46365657	46365657	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:46365657G>T	ENST00000359930.4	-	3	1056	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	SULF2_ENST00000361612.4_Missense_Mutation_p.R69S|SULF2_ENST00000467815.1_Missense_Mutation_p.R69S|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000484875.1_Missense_Mutation_p.R69S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	69					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCCATGATGCGCCGGGTCTTG	0.637000													28	59					1.07637e-12	1.42064e-12	0.074837	1	0
SOX12	6666	broad.mit.edu	37	20	307448	307448	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:307448G>A	ENST00000342665.2	+	1	1210	c.880G>A	c.(880-882)Gag>Aag	p.E294K	SOX12_ENST00000544632.1_Missense_Mutation_p.E294K|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	294					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTGCACCCCCGAGGTTACCGA	0.697000													11	56					0	0	0.119110	0	0
ZNF639	51193	broad.mit.edu	37	3	179051405	179051405	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:179051405A>C	ENST00000326361.3	+	7	1098	c.653A>C	c.(652-654)gAc>gCc	p.D218A	ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Missense_Mutation_p.D218A|ZNF639_ENST00000496856.1_Missense_Mutation_p.D218A	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	218					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATTTTTCTGACTTAAAGCAG	0.378000													57	18					0	0	0.139131	0	0
CRLF1	9244	broad.mit.edu	37	19	18710436	18710436	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:18710436G>T	ENST00000392386.3	-	2	529	c.336C>A	c.(334-336)gaC>gaA	p.D112E		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	112	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						ACACGAGGTTGTCCCCCGACC	0.672000													11	58					9.70103e-10	1.20284e-09	0.069234	1	0
LDHA	3939	broad.mit.edu	37	11	18427047	18427047	+	Silent	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:18427047C>G	ENST00000422447.3	+	7	1035	c.762C>G	c.(760-762)ctC>ctG	p.L254L	LDHA_ENST00000430553.2_Silent_p.L196L|LDHA_ENST00000227157.4_Intron|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000379412.5_Silent_p.L254L|LDHA_ENST00000542179.1_Silent_p.L254L|LDHA_ENST00000540430.1_Silent_p.L283L	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	254					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	CTATTGGACTCTCTGTAGCAG	0.448000													4	91					0	0	0.150653	0	0
CD226	10666	broad.mit.edu	37	18	67563206	67563206	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:67563206T>A	ENST00000280200.4	-	4	726	c.458A>T	c.(457-459)cAg>cTg	p.Q153L	CD226_ENST00000582621.1_Missense_Mutation_p.Q153L|CD226_ENST00000581982.1_5'UTR|CD226_ENST00000577287.1_5'UTR	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	153	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CATCTGAGGCTGACAAGTGAG	0.473000													29	29					0	0	0.064281	0	0
EDA	1896	broad.mit.edu	37	X	68836455	68836455	+	Silent	SNP	C	C	A	rs41539891		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:68836455C>A	ENST00000374552.4	+	1	545	c.303C>A	c.(301-303)ccC>ccA	p.P101P	EDA_ENST00000338901.3_Silent_p.P101P|EDA_ENST00000525810.1_Silent_p.P101P|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Silent_p.P101P|EDA_ENST00000527388.1_Silent_p.P101P|EDA_ENST00000374553.2_Silent_p.P101P	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	101					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTGACAGCCCCATCACCAGTC	0.677000													20	37					1.87028e-06	2.13396e-06	0.062417	1	0
INCENP	3619	broad.mit.edu	37	11	61917542	61917542	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:61917542C>G	ENST00000394818.3	+	18	2607	c.2405C>G	c.(2404-2406)aCc>aGc	p.T802S	INCENP_ENST00000278849.4_Missense_Mutation_p.T798S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	802					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGCTTGTACCTCATATCAG	0.557000													12	75					0	0	0.146539	0	0
NBAS	51594	broad.mit.edu	37	2	15519904	15519904	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:15519904C>A	ENST00000281513.5	-	30	3437	c.3412G>T	c.(3412-3414)Gct>Tct	p.A1138S	NBAS_ENST00000441750.1_Missense_Mutation_p.A1018S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1138										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCTGTCCAGCCAGGTGGATG	0.443000													83	56					1.76565e-42	2.91668e-42	0.139131	1	0
MROH2B	133558	broad.mit.edu	37	5	41070950	41070950	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:41070950G>C	ENST00000399564.4	-	1	455	c.5C>G	c.(4-6)aCa>aGa	p.T2R		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGTACTAAGTGTCATGTCTTG	0.388000													3	5					0	0	0.150653	0	0
ZNF473	25888	broad.mit.edu	37	19	50548106	50548106	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:50548106G>C	ENST00000595661.1	+	6	901	c.406G>C	c.(406-408)Gat>Cat	p.D136H	ZNF473_ENST00000445728.3_Missense_Mutation_p.D124H|ZNF473_ENST00000270617.3_Missense_Mutation_p.D136H|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.D136H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	136					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCTGAGGTCTGATATTGCCAC	0.483000													9	56					0	0	0.093190	0	0
ADAM33	80332	broad.mit.edu	37	20	3653515	3653515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:3653515G>T	ENST00000356518.2	-	12	1405	c.1164C>A	c.(1162-1164)tgC>tgA	p.C388*	ADAM33_ENST00000379861.4_Nonsense_Mutation_p.C388*|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Nonsense_Mutation_p.C388*	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	388	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGCGGCGGCTGCAGGCGCTGA	0.731000													22	8					2.79863e-10	3.51597e-10	0.099896	1	0
POU2F2	5452	broad.mit.edu	37	19	42600287	42600287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:42600287C>A	ENST00000389341.5	-	8	628	c.562G>T	c.(562-564)Gag>Tag	p.E188*	POU2F2_ENST00000526816.2_Nonsense_Mutation_p.E204*|POU2F2_ENST00000342301.4_Nonsense_Mutation_p.E204*|POU2F2_ENST00000560398.1_Nonsense_Mutation_p.E210*|POU2F2_ENST00000533720.1_Nonsense_Mutation_p.E188*|POU2F2_ENST00000560558.1_Nonsense_Mutation_p.E149*|POU2F2_ENST00000529952.1_Nonsense_Mutation_p.E204*|POU2F2_ENST00000529067.1_Nonsense_Mutation_p.E188*	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	204					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCGAATTGCTCCAGCTCCTCC	0.692000													20	29					8.24728e-16	1.14802e-15	0.099896	1	0
NFRKB	4798	broad.mit.edu	37	11	129762741	129762741	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:129762741C>T	ENST00000446488.3	-	2	107	c.4G>A	c.(4-6)Gat>Aat	p.D2N	NFRKB_ENST00000526940.1_Missense_Mutation_p.D2N|NFRKB_ENST00000304521.5_Missense_Mutation_p.D2N|NFRKB_ENST00000524794.1_Missense_Mutation_p.D15N|NFRKB_ENST00000524746.1_Missense_Mutation_p.D2N	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	2					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCTAAGGAATCCATTGTTTCT	0.507000													12	96					0	0	0.119110	0	0
NIPAL1	152519	broad.mit.edu	37	4	48038107	48038107	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:48038107A>T	ENST00000295461.5	+	6	1217	c.1151A>T	c.(1150-1152)aAt>aTt	p.N384I		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	384						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						AATGAAAACAATTATGTTTTA	0.378000													32	105					0	0	0.074837	0	0
REL	5966	broad.mit.edu	37	2	61144153	61144153	+	Splice_Site	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:61144153G>T	ENST00000295025.7	+	5	855		c.e5+1		REL_ENST00000394479.3_Splice_Site	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TATGACAACCGTAAGTACTTC	0.308000			A		Hodgkin Lymphoma								32	41					8.16277e-20	1.21222e-19	0.092188	1	0
HEATR6	63897	broad.mit.edu	37	17	58125668	58125668	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:58125668C>G	ENST00000184956.6	-	17	2645	c.2629G>C	c.(2629-2631)Gcc>Ccc	p.A877P	HEATR6_ENST00000585976.1_Missense_Mutation_p.A765P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	877							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGGGACCAGGCTGCTTTGGCT	0.463000													8	57					0	0	0.069234	0	0
MID2	11043	broad.mit.edu	37	X	107169377	107169377	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:107169377A>T	ENST00000262843.6	+	9	2199	c.1651A>T	c.(1651-1653)Aat>Tat	p.N551Y	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.N521Y	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	551	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GAAGATCTCCAATGATGGATT	0.403000													45	31					0	0	0.131918	0	0
LRP1	4035	broad.mit.edu	37	12	57605102	57605102	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:57605102G>A	ENST00000243077.3	+	84	13526	c.13060G>A	c.(13060-13062)Gtc>Atc	p.V4354I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4354	EGF-like 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCTGTGTGGTCAACAAGCA	0.637000													45	91					0	0	0.139131	0	0
TRIOBP	11078	broad.mit.edu	37	22	38111839	38111839	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:38111839A>T	ENST00000406386.3	+	6	781	c.526A>T	c.(526-528)Agg>Tgg	p.R176W	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	176					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GATGATCCCGAGGAGGCCTCG	0.622000													6	24					0	0	0.029380	0	0
HECW1	23072	broad.mit.edu	37	7	43508550	43508550	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:43508550G>T	ENST00000395891.1	+	16	3550	c.2945G>T	c.(2944-2946)tGc>tTc	p.C982F	HECW1_ENST00000453890.1_Missense_Mutation_p.C948F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	982					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGTAGCACCTGCTTAAAGCAC	0.502000													38	36					5.20006e-24	8.00717e-24	0.124865	1	0
TTN	7273	broad.mit.edu	37	2	179434805	179434805	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:179434805T>C	ENST00000589042.1	-	326	76278	c.76054A>G	c.(76054-76056)Aca>Gca	p.T25352A	TTN_ENST00000342992.6_Missense_Mutation_p.T22784A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T16479A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16412A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T23711A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T16287A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23711	Fibronectin type-III 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCATCTTGTCCATCTAATG	0.428000													11	54					0	0	0.093190	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667366	100667366	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:100667366C>G	ENST00000316594.5	+	2	468	c.390C>G	c.(388-390)ttC>ttG	p.F130L		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	130	RRM 2.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TTGTTCAGTTCTTTTCAGGGT	0.507000													21	65					0	0	0.062417	0	0
MUC16	94025	broad.mit.edu	37	19	9056231	9056231	+	Silent	SNP	A	A	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:9056231A>C	ENST00000397910.4	-	3	31418	c.31215T>G	c.(31213-31215)gtT>gtG	p.V10405V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10407	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCCAGCTCAACGCTCTCTG	0.488000													28	63					0	0	0.163468	0	0
NID2	22795	broad.mit.edu	37	14	52508850	52508850	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:52508850C>A	ENST00000216286.5	-	7	1797	c.1798G>T	c.(1798-1800)Ggc>Tgc	p.G600C	NID2_ENST00000541773.1_Missense_Mutation_p.G547C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	600	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTCTCAGAGCCAGGTTTTTCT	0.587000													20	61					3.51602e-12	4.61726e-12	0.049695	1	0
VPS13D	55187	broad.mit.edu	37	1	12336868	12336868	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:12336868G>A	ENST00000358136.3	+	19	3353	c.3223G>A	c.(3223-3225)Gag>Aag	p.E1075K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1075K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1075					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTACCAAAGAGCAAGAGTC	0.438000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	155					0	0	0.108266	0	0
NFATC2	4773	broad.mit.edu	37	20	50140440	50140440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:50140440C>A	ENST00000371564.3	-	2	559	c.340G>T	c.(340-342)Gag>Tag	p.E114*	NFATC2_ENST00000396009.3_Nonsense_Mutation_p.E114*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.E94*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	114	Calcineurin-binding.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGAGTGATCTCGATCCGAGGG	0.716000													18	49					5.26018e-13	6.9957e-13	0.062417	1	0
CLEC4G	339390	broad.mit.edu	37	19	7794745	7794745	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:7794745C>G	ENST00000328853.5	-	8	773	c.705G>C	c.(703-705)caG>caC	p.Q235H		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	235	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACTGGTAGCCCTGAACCTTGC	0.612000													10	78					0	0	0.119110	0	0
FBN2	2201	broad.mit.edu	37	5	127800505	127800505	+	Silent	SNP	C	C	G	rs150087436	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:127800505C>G	ENST00000508053.1	-	12	1712	c.738G>C	c.(736-738)gcG>gcC	p.A246A	FBN2_ENST00000508989.1_Silent_p.A213A|FBN2_ENST00000262464.4_Silent_p.A246A			P35556	FBN2_HUMAN	fibrillin 2	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			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	0.607000													14	75					0	0	0.146539	0	0
ZAP70	7535	broad.mit.edu	37	2	98340655	98340655	+	Missense_Mutation	SNP	C	C	G	rs138447206	by1000genomes	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:98340655C>G	ENST00000264972.5	+	3	371	c.156C>G	c.(154-156)caC>caG	p.H52Q		NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	52	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGCTCGTGCACGATGTGCGCT	0.672000													4	18					0	0	0.014758	0	0
FERMT2	10979	broad.mit.edu	37	14	53385933	53385933	+	Missense_Mutation	SNP	C	C	A	rs141887548		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:53385933C>A	ENST00000395631.2	-	3	515	c.299G>T	c.(298-300)cGc>cTc	p.R100L	FERMT2_ENST00000399304.3_Missense_Mutation_p.R100L|FERMT2_ENST00000553373.1_Missense_Mutation_p.R100L|FERMT2_ENST00000341590.3_Missense_Mutation_p.R100L|FERMT2_ENST00000343279.4_Missense_Mutation_p.R100L			Q96AC1	FERM2_HUMAN	fermitin family member 2	100					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAGCTGCAGGCGGAGCAGTTT	0.418000													35	96					2.45108e-15	3.38931e-15	0.104719	1	0
ABCB5	340273	broad.mit.edu	37	7	20725427	20725427	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:20725427G>C	ENST00000404938.2	+	16	2630	c.1978G>C	c.(1978-1980)Gac>Cac	p.D660H	ABCB5_ENST00000258738.6_Missense_Mutation_p.D215H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	215	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGACTTCATTGACAAGGCTGA	0.388000													23	36					0	0	0.116897	0	0
SOX8	30812	broad.mit.edu	37	16	1035263	1035263	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:1035263C>A	ENST00000293894.3	+	3	1333	c.1218C>A	c.(1216-1218)ccC>ccA	p.P406P		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	406					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				ACCAGTACCCCTGCTTCCACT	0.711000													27	31					1.06647e-15	1.48058e-15	0.064281	1	0
EXT2	2132	broad.mit.edu	37	11	44265763	44265763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:44265763C>T	ENST00000395673.3	+	14	2238	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*	EXT2_ENST00000343631.3_Nonsense_Mutation_p.R695*|EXT2_ENST00000533608.1_Nonsense_Mutation_p.R695*|EXT2_ENST00000358681.4_Nonsense_Mutation_p.R705*	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	695					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTGGAACACCGAGCTGACCC	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				5	99					0	0	0.021553	0	0
AP4E1	23431	broad.mit.edu	37	15	51289560	51289560	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:51289560G>T	ENST00000261842.5	+	18	2490	c.2384G>T	c.(2383-2385)aGg>aTg	p.R795M	AP4E1_ENST00000560508.1_Missense_Mutation_p.R720M	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	795					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AAGTTCAGAAGGAAATCAAAA	0.323000													8	19					0.010729	0.0111012	0.080935	1	0
BCAR3	8412	broad.mit.edu	37	1	94041662	94041662	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:94041662C>G	ENST00000370244.1	-	10	1999	c.1711G>C	c.(1711-1713)Gaa>Caa	p.E571Q	BCAR3_ENST00000370247.3_Missense_Mutation_p.E480Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.E571Q|BCAR3_ENST00000539242.1_Missense_Mutation_p.E247Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.E571Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	571	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTCATCTCTTCAGAGACTCCA	0.493000													4	72					0	0	0.014758	0	0
TULP4	56995	broad.mit.edu	37	6	158902115	158902115	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:158902115G>C	ENST00000367097.3	+	8	2637	c.1280G>C	c.(1279-1281)aGa>aCa	p.R427T	TULP4_ENST00000367094.2_Missense_Mutation_p.R427T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	427					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AACAACATGAGAGACTTTGTC	0.587000													22	52					0	0	0.125774	0	0
CACNB1	782	broad.mit.edu	37	17	37340312	37340312	+	Silent	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:37340312A>T	ENST00000394303.3	-	10	1077	c.870T>A	c.(868-870)atT>atA	p.I290I	CACNB1_ENST00000394310.3_Silent_p.I290I|CACNB1_ENST00000344140.5_Silent_p.I335I	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	290					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TGGAGCGCTCAATGATGATGT	0.582000													19	65					0	0	0.076483	0	0
EVC	2121	broad.mit.edu	37	4	5755573	5755573	+	Silent	SNP	G	G	T	rs138725840		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:5755573G>T	ENST00000382674.2	+	10	1561	c.1377G>T	c.(1375-1377)acG>acT	p.T459T	EVC_ENST00000509451.1_Silent_p.T459T|EVC_ENST00000264956.6_Silent_p.T459T			P57679	EVC_HUMAN	Ellis van Creveld syndrome	459					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGGAGGGAACGGCAAAACTCA	0.572000													5	54					0.014758	0.0152246	0.014758	1	0
SLCO2B1	11309	broad.mit.edu	37	11	74915622	74915622	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:74915622G>A	ENST00000289575.5	+	14	2522	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	SLCO2B1_ENST00000428359.2_Silent_p.V687V|SLCO2B1_ENST00000532236.1_Silent_p.V593V|SLCO2B1_ENST00000341411.4_Silent_p.V482V|SLCO2B1_ENST00000454962.2_Silent_p.V482V|SLCO2B1_ENST00000525650.1_Silent_p.V565V	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	709					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ATTCCCGAGTGTGAGCTGTCT	0.577000													9	33					0	0	0.069234	0	0
IRS1	3667	broad.mit.edu	37	2	227663346	227663346	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:227663346C>T	ENST00000305123.4	-	1	1129	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	37	Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCCCCAGCCTCGCTGGCCGCG	0.647000													12	75					0	0	0.132662	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432915	111432915	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:111432915C>A	ENST00000393934.3	+	3	1376	c.806C>A	c.(805-807)cCc>cAc	p.P269H	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000477665.1_Missense_Mutation_p.P269H	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	269					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATCCTCACCCCCAGAGTGAAG	0.537000													28	65					5.09552e-08	6.03143e-08	0.153744	1	0
KLHL18	23276	broad.mit.edu	37	3	47371577	47371577	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:47371577C>G	ENST00000232766.5	+	4	558	c.538C>G	c.(538-540)Ccc>Gcc	p.P180A	KLHL18_ENST00000455924.2_Missense_Mutation_p.P68A	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	180	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCTGGCCCTGCCCTTGGAAGA	0.537000													28	35					0	0	0.134883	0	0
GABRG1	2565	broad.mit.edu	37	4	46060534	46060534	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:46060534C>T	ENST00000295452.4	-	6	898	c.731G>A	c.(730-732)cGg>cAg	p.R244Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	244					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGTTGAGTTCCGTAACCCTAC	0.333000													32	90					0	0	0.098360	0	0
KIF1B	23095	broad.mit.edu	37	1	10363875	10363875	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:10363875G>T	ENST00000377093.4	+	21	2785	c.2632G>T	c.(2632-2634)Gtt>Ttt	p.V878F	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.V878F|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAAGGAGCCTGTTGGTGCTGG	0.423000													10	36					5.16669e-11	6.62656e-11	0.080935	1	0
RAPGEF1	2889	broad.mit.edu	37	9	134471693	134471693	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:134471693T>C	ENST00000372195.1	-	14	2417	c.2174A>G	c.(2173-2175)gAc>gGc	p.D725G	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.D726G|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.D708G			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	708	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ACCTTTCCTGTCAGTCTCAGT	0.607000													13	49					0	0	0.105934	0	0
FSTL5	56884	broad.mit.edu	37	4	162402214	162402214	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:162402214G>T	ENST00000306100.5	-	13	2002	c.1566C>A	c.(1564-1566)gaC>gaA	p.D522E	FSTL5_ENST00000427802.2_Missense_Mutation_p.D512E|FSTL5_ENST00000536695.1_Missense_Mutation_p.D521E|FSTL5_ENST00000379164.4_Missense_Mutation_p.D521E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	522						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAAGGACTCTGTCCAAAGTTG	0.353000													39	93					6.48837e-15	8.88957e-15	0.117977	1	0
NCF2	4688	broad.mit.edu	37	1	183529285	183529285	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:183529285G>C	ENST00000413720.1	-	13	1553	c.1279C>G	c.(1279-1281)Caa>Gaa	p.Q427E	NCF2_ENST00000418089.1_Missense_Mutation_p.Q391E|NCF2_ENST00000367536.1_Missense_Mutation_p.Q472E|NCF2_ENST00000367535.3_Missense_Mutation_p.Q472E	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	472	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCCTCTGGTTGGGTAGCCTCA	0.438000													19	156					0	0	0.069288	0	0
CAMLG	819	broad.mit.edu	37	5	134077174	134077174	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:134077174T>C	ENST00000297156.2	+	2	714	c.594T>C	c.(592-594)ctT>ctC	p.L198L	CAMLG_ENST00000514518.1_Intron	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	198					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	GATGTGCTCTTCTTGCTCTTG	0.323000													17	82					0	0	0.049695	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891450	2891450	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:2891450C>T	ENST00000254528.3	+	4	1484	c.1325C>T	c.(1324-1326)cCa>cTa	p.P442L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	442					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTTCCAGAGCCAGATGTGGAT	0.433000													44	109					0	0	0.131918	0	0
KAT2B	8850	broad.mit.edu	37	3	20161127	20161127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:20161127C>A	ENST00000263754.4	+	8	1643	c.1188C>A	c.(1186-1188)taC>taA	p.Y396*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	396					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAATTTCATACAATTCAACCT	0.488000													9	51					7.48243e-07	8.64121e-07	0.058154	1	0
PCLO	27445	broad.mit.edu	37	7	82584891	82584891	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:82584891C>A	ENST00000423517.2	-	5	5715	c.5378G>T	c.(5377-5379)aGg>aTg	p.R1793M	PCLO_ENST00000333891.8_Missense_Mutation_p.R1793M	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1724					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTATTTCCCTCTGCTTTTC	0.393000													23	19					1.50039e-11	1.94103e-11	0.062417	1	0
IRF8	3394	broad.mit.edu	37	16	85936643	85936643	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:85936643C>A	ENST00000268638.5	+	2	444	c.22C>A	c.(22-24)Cgg>Agg	p.R8R	IRF8_ENST00000563180.1_Silent_p.R8R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	8					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)				GAATGGTGGTCGGCGGCTTCG	0.478000													59	160					3.83446e-41	6.32413e-41	0.139131	1	0
CDH7	1005	broad.mit.edu	37	18	63481777	63481777	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:63481777A>G	ENST00000536984.2	+	4	1256	c.562A>G	c.(562-564)Agt>Ggt	p.S188G	CDH7_ENST00000323011.3_Missense_Mutation_p.S188G|CDH7_ENST00000397968.2_Missense_Mutation_p.S188G			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	188	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATATGGCAACAGTGCCAGAGT	0.433000													43	78					0	0	0.139131	0	0
KMT2B	9757	broad.mit.edu	37	19	36220984	36220984	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:36220984G>C	ENST00000222270.7	+	23	5034	c.5034G>C	c.(5032-5034)aaG>aaC	p.K1678N	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.K1678N	NM_014727.1	NP_055542.1																					AGGATGACAAGAAAGTCTTCT	0.572000													4	17					0	0	0.014758	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634159	70634159	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:70634159G>C	ENST00000381269.2	-	2	1734	c.981C>G	c.(979-981)caC>caG	p.H327Q	SLC8A3_ENST00000534137.1_Missense_Mutation_p.H327Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.H327Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.H327Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.H327Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	327					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCTTCTCTGGGTGTTTTTGCT	0.512000													25	42					0	0	0.116897	0	0
MACC1	346389	broad.mit.edu	37	7	20198817	20198817	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:20198817T>C	ENST00000400331.5	-	5	1475	c.1167A>G	c.(1165-1167)acA>acG	p.T389T	MACC1_ENST00000332878.4_Silent_p.T389T|MACC1_ENST00000589011.1_Silent_p.T389T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	389					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTCCACAAACTGTTAAAACAA	0.403000													7	38					0	0	0.038147	0	0
C1orf110	339512	broad.mit.edu	37	1	162825131	162825131	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:162825131C>A	ENST00000367912.1	-	4	504	c.330G>T	c.(328-330)atG>atT	p.M110I	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.M106I|C1orf110_ENST00000367910.1_Missense_Mutation_p.M111I			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	111										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGTCTTGGGCCATACGGGTTG	0.443000													73	121					3.16549e-35	5.13163e-35	0.139131	1	0
INPP5B	3633	broad.mit.edu	37	1	38334220	38334220	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:38334220C>G	ENST00000373023.2	-	20	2587	c.2494G>C	c.(2494-2496)Gag>Cag	p.E832Q	INPP5B_ENST00000373024.3_Missense_Mutation_p.E752Q|INPP5B_ENST00000373026.1_Missense_Mutation_p.E832Q|INPP5B_ENST00000373027.1_Missense_Mutation_p.E588Q	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	832	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCCAGAGCTCTTTGGGGATT	0.493000													15	95					0	0	0.175082	0	0
ACOX3	8310	broad.mit.edu	37	4	8417721	8417721	+	Silent	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:8417721G>A	ENST00000356406.5	-	3	227	c.150C>T	c.(148-150)acC>acT	p.T50T	ACOX3_ENST00000503233.1_Silent_p.T50T|ACOX3_ENST00000413009.2_Silent_p.T50T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	50					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTGAGAAGATGGTTTTCTGGA	0.493000													22	31					0	0	0.091800	0	0
PLCB1	23236	broad.mit.edu	37	20	8609011	8609011	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr20:8609011T>A	ENST00000378641.3	+	4	792	c.317T>A	c.(316-318)gTg>gAg	p.V106E	PLCB1_ENST00000378637.2_Missense_Mutation_p.V106E|PLCB1_ENST00000338037.6_Missense_Mutation_p.V106E	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	106					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCACAGTGGTGTATGGGCCT	0.458000													15	109					0	0	0.146539	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453554	22453554	+	RNA	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:22453554C>A	ENST00000390283.2	+	0	346																											CTGCCCTCACCATCACGGGGG	0.522000													65	23					5.43229e-20	8.07879e-20	0.139131	1	0
PRSS57	400668	broad.mit.edu	37	19	694890	694890	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:694890C>A	ENST00000329267.7	-	2	189	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W		NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN	protease, serine, 57	54	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						TGTTGGCCCCCGAAGCGCACG	0.697000													8	1					2.17888e-05	2.41481e-05	0.058154	1	0
GRIN2A	2903	broad.mit.edu	37	16	9928037	9928037	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:9928037C>A	ENST00000396573.2	-	9	2011	c.1702G>T	c.(1702-1704)Gtt>Ttt	p.V568F	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V568F|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V411F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V568F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V568F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V568F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	568					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGGCAGAAACAATGAGCAGC	0.418000													16	103					8.00594e-06	8.99699e-06	0.043863	1	0
COLGALT2	23127	broad.mit.edu	37	1	183913414	183913414	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:183913414T>A	ENST00000361927.4	-	10	1684	c.1313A>T	c.(1312-1314)gAt>gTt	p.D438V	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D438V|COLGALT2_ENST00000367521.1_Missense_Mutation_p.D46V|COLGALT2_ENST00000367520.3_Missense_Mutation_p.D175V	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		AAAACGCACATCGTCTTCAAT	0.403000													27	44					0	0	0.144211	0	0
PCBP2	5094	broad.mit.edu	37	12	53849708	53849708	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:53849708G>C	ENST00000603815.1	+	5	516	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	PCBP2_ENST00000439930.3_Missense_Mutation_p.E56Q|PCBP2_ENST00000546463.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000359462.5_Missense_Mutation_p.E56Q|PCBP2_ENST00000437231.1_Missense_Mutation_p.E56Q|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000548933.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000549863.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000359282.5_Missense_Mutation_p.E56Q|PCBP2_ENST00000447282.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000455667.3_Missense_Mutation_p.E56Q|PCBP2_ENST00000552296.2_Missense_Mutation_p.E56Q|PCBP2_ENST00000552819.1_Missense_Mutation_p.E56Q|PCBP2_ENST00000541275.1_Missense_Mutation_p.E56Q	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	56	KH 1.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GAATTGTCCTGAGAGAATTAT	0.413000													19	249					0	0	0.062417	0	0
SYTL5	94122	broad.mit.edu	37	X	37961680	37961680	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:37961680T>A	ENST00000357972.5	+	10	1694	c.1148T>A	c.(1147-1149)cTa>cAa	p.L383Q	SYTL5_ENST00000456733.2_Missense_Mutation_p.L383Q|SYTL5_ENST00000297875.2_Missense_Mutation_p.L383Q|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	383					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GCAAGTGGCCTATCAACTGTA	0.408000													5	63					0	0	0.029380	0	0
C14orf180	400258	broad.mit.edu	37	14	105054091	105054091	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:105054091C>G	ENST00000557649.1	+	3	453	c.117C>G	c.(115-117)gaC>gaG	p.D39E	C14orf180_ENST00000410013.1_Missense_Mutation_p.D39E|C14orf180_ENST00000331952.2_Missense_Mutation_p.D39E			Q8N912	CN180_HUMAN	chromosome 14 open reading frame 180	39						integral to membrane							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		ACCAGGAGGACAACAGGAAGT	0.701000													3	15					0	0	0.115264	0	0
GABRA6	2559	broad.mit.edu	37	5	161116337	161116337	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:161116337G>T	ENST00000523217.1	+	5	736	c.494G>T	c.(493-495)gGg>gTg	p.G165V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Missense_Mutation_p.G175V	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	175					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAAGTTTGGGAGCTGTAAG	0.383000										TCGA Ovarian(5;0.080)			21	58					1.75199e-13	2.35705e-13	0.125774	1	0
FNDC1	84624	broad.mit.edu	37	6	159654537	159654537	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:159654537C>A	ENST00000297267.9	+	11	3193	c.2993C>A	c.(2992-2994)cCc>cAc	p.P998H	FNDC1_ENST00000340366.6_Missense_Mutation_p.P935H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	998						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGGATGACACCCGGCCGGGCC	0.706000													7	8					0.000978159	0.00103992	0.080935	1	0
OR4L1	122742	broad.mit.edu	37	14	20528637	20528637	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:20528637C>T	ENST00000315683.1	+	1	434	c.434C>T	c.(433-435)gCg>gTg	p.A145V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGGGGTTTGCGATACTTTCA	0.388000													30	47					0	0	0.173368	0	0
ACTC1	70	broad.mit.edu	37	15	35085482	35085482	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:35085482C>A	ENST00000290378.4	-	3	1073	c.418G>T	c.(418-420)Gca>Tca	p.A140S	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	140					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GATAGCACTGCCTGGATGGCC	0.552000													14	73					3.45872e-05	3.81702e-05	0.146539	1	0
MN1	4330	broad.mit.edu	37	22	28195093	28195093	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:28195093C>A	ENST00000302326.4	-	1	2393	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	480							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ATCCAGAGCGCCGTTGTGCAT	0.682000			T	ETV6	"""AML, meningioma"""								4	19					0.00909568	0.00942988	0.150653	1	0
PSG9	5678	broad.mit.edu	37	19	43762346	43762346	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:43762346C>A	ENST00000244293.7	-	4	1038	c.972G>T	c.(970-972)tgG>tgT	p.W324C	PSG9_ENST00000270077.3_Intron|PSG9_ENST00000596730.1_Missense_Mutation_p.W231C|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ATGCTGGGATCCACTTACCAG	0.458000													134	123					3.12418e-63	5.29487e-63	0.139131	1	0
C1orf61	10485	broad.mit.edu	37	1	156386590	156386590	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:156386590G>T	ENST00000368243.1	-	3	158	c.42C>A	c.(40-42)aaC>aaA	p.N14K	C1orf61_ENST00000476966.1_Intron	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	14						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					AAAGGAGGAAGTTCCTCAAGT	0.463000													62	92					3.83939e-23	5.8687e-23	0.139131	1	0
ZFHX4	79776	broad.mit.edu	37	8	77619980	77619980	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:77619980C>A	ENST00000521891.2	+	3	3238	c.2790C>A	c.(2788-2790)ctC>ctA	p.L930L	ZFHX4_ENST00000455469.2_Silent_p.L904L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.L904L|ZFHX4_ENST00000050961.6_Silent_p.L904L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	904						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCTCTCTCCCTGAAGAGG	0.512000										HNSCC(33;0.089)			7	17					3.09899e-07	3.58685e-07	0.047766	1	0
CHRM2	1129	broad.mit.edu	37	7	136699780	136699780	+	Silent	SNP	C	C	A	rs78847341		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:136699780C>A	ENST00000445907.2	+	3	696	c.168C>A	c.(166-168)acC>acA	p.T56T	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Silent_p.T56T|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.T56T|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.T56T|CHRM2_ENST00000402486.3_Silent_p.T56T|CHRM2_ENST00000453373.1_Silent_p.T56T|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	56					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACCTCCAGACCGTCAACAATT	0.458000													56	35					4.09171e-25	6.34731e-25	0.139131	1	0
ANKRD2	26287	broad.mit.edu	37	10	99338071	99338071	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:99338071C>A	ENST00000307518.5	+	3	612	c.345C>A	c.(343-345)ctC>ctA	p.L115L	ANKRD2_ENST00000455090.1_Silent_p.L88L|ANKRD2_ENST00000370655.1_Silent_p.L88L|ANKRD2_ENST00000298808.5_Silent_p.L115L			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	115					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TCCAGAACCTCATCGAGCTGC	0.667000													13	19					1.5739e-10	1.99896e-10	0.146539	1	0
HDAC6	10013	broad.mit.edu	37	X	48678626	48678626	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:48678626G>T	ENST00000334136.5	+	23	2479	c.2301G>T	c.(2299-2301)atG>atT	p.M767I	HDAC6_ENST00000444343.2_Missense_Mutation_p.M781I|HDAC6_ENST00000376619.2_Missense_Mutation_p.M767I			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	767	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACCTGCTGATGGGCCTTGCCA	0.582000													11	42					1.5842e-08	1.91203e-08	0.105934	1	0
OR3A4P	390756	broad.mit.edu	37	17	3213766	3213766	+	RNA	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:3213766G>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CCATCCTTATGGAAACCAAAC	0.542000													74	28					7.68447e-34	1.23805e-33	0.139131	1	0
RBM46	166863	broad.mit.edu	37	4	155720326	155720326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:155720326G>T	ENST00000510397.1	+	4	1191	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*	RBM46_ENST00000281722.3_Nonsense_Mutation_p.E338*|RBM46_ENST00000514866.1_Nonsense_Mutation_p.E338*	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	338							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TAACAAAGAAGAGAGCCACCC	0.428000													6	53					2.17888e-05	2.41481e-05	0.058154	1	0
PRAMEF6	440561	broad.mit.edu	37	1	13001283	13001283	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:13001283G>T	ENST00000376189.1	-	3	499	c.400C>A	c.(400-402)Cca>Aca	p.P134T	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.P134T|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	134										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGCACTGGTGTTTTGTTC	0.502000													53	707					2.18329e-32	3.48525e-32	0.139131	1	0
DPP4	1803	broad.mit.edu	37	2	162894883	162894883	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:162894883G>A	ENST00000360534.3	-	8	1102	c.542C>T	c.(541-543)cCa>cTa	p.P181L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	181					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCTGTAACTTGGTAAATTTGG	0.289000													5	47					0	0	0.014758	0	0
NRROS	375387	broad.mit.edu	37	3	196386878	196386878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:196386878G>T	ENST00000328557.4	+	3	567	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		AGAGAACTACGAAGAGACGGC	0.667000													12	20					1.61879e-10	2.04851e-10	0.093190	1	0
AFF2	2334	broad.mit.edu	37	X	148037617	148037617	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:148037617G>A	ENST00000370460.2	+	11	2521	c.2042G>A	c.(2041-2043)aGg>aAg	p.R681K	AFF2_ENST00000342251.3_Missense_Mutation_p.R648K|AFF2_ENST00000370457.5_Missense_Mutation_p.R648K|AFF2_ENST00000286437.5_Missense_Mutation_p.R322K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	681					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCCCCTAGGAAAGAACCA	0.493000													41	26					0	0	0.139131	0	0
MAN2B2	23324	broad.mit.edu	37	4	6610904	6610904	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:6610904G>A	ENST00000285599.3	+	12	1921	c.1885G>A	c.(1885-1887)Ggc>Agc	p.G629S	MAN2B2_ENST00000504248.1_Missense_Mutation_p.G578S|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	629					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTGAAACAGGGCCCCATTTC	0.567000													12	58					0	0	0.105934	0	0
AKAP12	9590	broad.mit.edu	37	6	151672917	151672917	+	Missense_Mutation	SNP	G	G	C	rs142987485		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:151672917G>C	ENST00000402676.2	+	4	3631	c.3391G>C	c.(3391-3393)Gag>Cag	p.E1131Q	AKAP12_ENST00000359755.5_Missense_Mutation_p.E1026Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1033Q|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1131Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1131					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGAGCATAGAGTCCAGTGA	0.512000													8	23					0	0	0.047766	0	0
PLSCR1	5359	broad.mit.edu	37	3	146239458	146239458	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:146239458C>A	ENST00000342435.4	-	7	1021	c.611G>T	c.(610-612)gGt>gTt	p.G204V	PLSCR1_ENST00000448787.2_Missense_Mutation_p.G123V|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.G197V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	204					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						AATAACATAACCTATTGGTAC	0.353000													18	32					4.35082e-09	5.28784e-09	0.055883	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			25	6					0	0	0.134883	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240245	132240245	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:132240245C>G	ENST00000321253.6	+	5	1284	c.1177C>G	c.(1177-1179)Cat>Gat	p.H393D		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	393					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCGCCTGGACCATAAGTTCGA	0.652000													26	171					0	0	0.108266	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201792	21201792	+	Splice_Site	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:21201792G>C	ENST00000342679.4	+	2	365		c.e2+1		MAP2K3_ENST00000361818.5_Splice_Site|MAP2K3_ENST00000316920.6_Splice_Site	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3						activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAACCCCACGTGAGTCTGCC	0.577000													11	309					0	0	0.119110	0	0
CTDP1	9150	broad.mit.edu	37	18	77455237	77455237	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:77455237G>C	ENST00000299543.7	+	2	474	c.327G>C	c.(325-327)gtG>gtC	p.V109V	CTDP1_ENST00000075430.7_Silent_p.V109V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	109					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGGTTCTGGTGAGGTTGGAAG	0.453000													12	57					0	0	0.132662	0	0
DBH	1621	broad.mit.edu	37	9	136521726	136521726	+	Missense_Mutation	SNP	G	G	T	rs148439785	byFrequency	TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:136521726G>T	ENST00000393056.2	+	10	1528	c.1516G>T	c.(1516-1518)Gct>Tct	p.A506S	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	506					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTGCAAGAGCGCTGTGGACGC	0.612000													4	38					0.00024832	0.000268927	0.150653	1	0
CLUL1	27098	broad.mit.edu	37	18	633426	633426	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:633426C>T	ENST00000581619.1	+	6	1907	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	CLUL1_ENST00000579494.1_Silent_p.L329L|CLUL1_ENST00000540035.1_Silent_p.L381L|CLUL1_ENST00000400606.2_Silent_p.L329L|CLUL1_ENST00000338387.7_Silent_p.L329L			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	329					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TCAGGCTCACCTATCTGAAGG	0.363000													13	54					0	0	0.160694	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15123931	15123931	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:15123931C>T	ENST00000253699.3	-	9	1396	c.783G>A	c.(781-783)aaG>aaA	p.K261K	ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000476527.2_Silent_p.K261K|ZFYVE20_ENST00000449964.2_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	261	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GCTGCTCTCTCTTGAGCAGCG	0.542000													11	55					0	0	0.105934	0	0
HEPH	9843	broad.mit.edu	37	X	65418786	65418786	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:65418786A>T	ENST00000519389.1	+	11	2121	c.1942A>T	c.(1942-1944)Aat>Tat	p.N648Y	HEPH_ENST00000441993.2_Missense_Mutation_p.N597Y|HEPH_ENST00000336279.5_Missense_Mutation_p.N327Y|HEPH_ENST00000343002.2_Missense_Mutation_p.N594Y|HEPH_ENST00000374727.3_Missense_Mutation_p.N597Y|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	594	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGTACAGCAATGCCAATCA	0.448000													15	61					0	0	0.132662	0	0
ATF7IP	55729	broad.mit.edu	37	12	14649278	14649278	+	Splice_Site	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:14649278G>A	ENST00000544627.1	+	14	3737		c.e14+1		ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000540793.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGTGCATACTGTAAGTGTTGA	0.388000													34	17					0	0	0.104719	0	0
MXRA8	54587	broad.mit.edu	37	1	1290476	1290476	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:1290476C>T	ENST00000309212.6	-	5	565	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	MXRA8_ENST00000445648.2_Missense_Mutation_p.G179S|MXRA8_ENST00000342753.4_Missense_Mutation_p.G78S	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	179	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGGGTGCGCCGCGCGCCACC	0.781000													8	3					0	0	0.047766	0	0
CTSE	1510	broad.mit.edu	37	1	206317610	206317610	+	Silent	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:206317610C>T	ENST00000361052.3	+	1	152	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CTSE_ENST00000432969.2_5'UTR|CTSE_ENST00000360218.2_Silent_p.L12L|CTSE_ENST00000358184.2_Silent_p.L12L			P14091	CATE_HUMAN	cathepsin E	12					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCTGGTGCTCCTGGAGCTGGG	0.597000													17	56					0	0	0.043863	0	0
MCM6	4175	broad.mit.edu	37	2	136609035	136609035	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:136609035C>A	ENST00000264156.2	-	13	1914	c.1854G>T	c.(1852-1854)gtG>gtT	p.V618V	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	618					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CAAGCTGTCGCACTGTAATCC	0.458000													27	18					1.74807e-11	2.25864e-11	0.153744	1	0
PRAMEF6	440561	broad.mit.edu	37	1	13001282	13001282	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:13001282G>T	ENST00000376189.1	-	3	500	c.401C>A	c.(400-402)cCa>cAa	p.P134Q	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.P134Q|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	134										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTGCACTGGTGTTTTGTT	0.507000													54	702					7.07328e-35	1.14311e-34	0.139131	1	0
PDZRN4	29951	broad.mit.edu	37	12	41966616	41966616	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:41966616G>C	ENST00000298919.7	+	10	1643	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E421Q|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E679Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	679	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CATTGAGCTTGAGTGTCAGAA	0.448000													16	82					0	0	0.160694	0	0
STAB2	55576	broad.mit.edu	37	12	104049082	104049082	+	Silent	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr12:104049082A>G	ENST00000388887.2	+	14	1809	c.1605A>G	c.(1603-1605)ttA>ttG	p.L535L	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	535	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATCTTTGTTAGAGGTAAGCA	0.294000													53	53					0	0	0.139131	0	0
CRYBA2	1412	broad.mit.edu	37	2	219855051	219855051	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:219855051C>G	ENST00000295728.2	-	4	753	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	CRYBA2_ENST00000487181.1_5'UTR|CRYBA2_ENST00000392096.2_Missense_Mutation_p.E173Q	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	173	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTACAGAACTCTCCGCTGTGC	0.632000													12	81					0	0	0.119110	0	0
VWA3B	200403	broad.mit.edu	37	2	98852870	98852870	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:98852870G>T	ENST00000477737.1	+	18	2650	c.2446G>T	c.(2446-2448)Gct>Tct	p.A816S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	816										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATCTTGCTGGCTGAGGAGTG	0.443000													28	109					6.84511e-11	8.747e-11	0.183431	1	0
OR5H1	26341	broad.mit.edu	37	3	97852446	97852446	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:97852446C>G	ENST00000354565.2	+	1	905	c.905C>G	c.(904-906)aCa>aGa	p.T302R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTTCATTCACAAAAATGTTA	0.313000													3	48					0	0	0.150653	0	0
MXRA5	25878	broad.mit.edu	37	X	3228409	3228409	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chrX:3228409C>A	ENST00000217939.6	-	7	7989	c.7835G>T	c.(7834-7836)gGg>gTg	p.G2612V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2612	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCGGTAGGCCCCGGCGTCCAC	0.612000													3	25					0.004672	0.00489224	0.115264	1	0
ZNF318	24149	broad.mit.edu	37	6	43308097	43308097	+	Silent	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:43308097T>C	ENST00000361428.2	-	10	3716	c.3639A>G	c.(3637-3639)aaA>aaG	p.K1213K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1213	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCTTTTTTTCTTTCTTCTCCT	0.483000													20	98					0	0	0.083992	0	0
NEB	4703	broad.mit.edu	37	2	152506830	152506830	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:152506830C>G	ENST00000427231.2	-	54	7493	c.7291G>C	c.(7291-7293)Gag>Cag	p.E2431Q	NEB_ENST00000172853.10_Missense_Mutation_p.E2431Q|NEB_ENST00000409198.1_Missense_Mutation_p.E2431Q|NEB_ENST00000603639.1_Missense_Mutation_p.E2431Q|NEB_ENST00000397345.3_Missense_Mutation_p.E2431Q|NEB_ENST00000604864.1_Missense_Mutation_p.E2431Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2431					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCTGCCTCTAAAGAACCC	0.453000													18	74					0	0	0.076483	0	0
TTC29	83894	broad.mit.edu	37	4	147824710	147824710	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:147824710A>G	ENST00000513335.1	-	7	849	c.650T>C	c.(649-651)cTc>cCc	p.L217P	TTC29_ENST00000398886.4_Missense_Mutation_p.L217P|TTC29_ENST00000325106.4_Missense_Mutation_p.L191P			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	191							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTCCTCGTAGAGAAGACCCAT	0.458000													7	20					0	0	0.047766	0	0
POMGNT1	55624	broad.mit.edu	37	1	46655023	46655023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:46655023C>A	ENST00000371992.1	-	22	2526	c.1876G>T	c.(1876-1878)Gaa>Taa	p.E626*	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.E626*|POMGNT1_ENST00000371984.3_Missense_Mutation_p.K634N|POMGNT1_ENST00000535522.1_Missense_Mutation_p.K612N	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	623					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					AGGGTGGCTTCTTCACTCTGG	0.532000													21	55					3.6726e-16	5.15349e-16	0.091800	1	0
EPS8L3	79574	broad.mit.edu	37	1	110302000	110302000	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:110302000C>G	ENST00000369805.3	-	5	494	c.265G>C	c.(265-267)Gac>Cac	p.D89H	EPS8L3_ENST00000361852.4_Missense_Mutation_p.D89H|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361965.4_Missense_Mutation_p.D89H|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	89						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGTAAGAGTCCAGCTCCTCC	0.602000													20	87					0	0	0.055883	0	0
IL17REL	400935	broad.mit.edu	37	22	50439231	50439231	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr22:50439231C>A	ENST00000389983.2	-	5	435	c.171G>T	c.(169-171)caG>caT	p.Q57H	IL17REL_ENST00000341280.5_Missense_Mutation_p.Q57H	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	57										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACACGCTCTGACACTGCG	0.701000													3	20					0.00024832	0.000268927	0.150653	1	0
SMC4	10051	broad.mit.edu	37	3	160150941	160150941	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr3:160150941G>A	ENST00000357388.3	+	23	4109	c.3658G>A	c.(3658-3660)Gag>Aag	p.E1220K	SMC4_ENST00000462787.1_Missense_Mutation_p.E1162K|SMC4_ENST00000344722.5_Missense_Mutation_p.E1220K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.E1195K|SMC4_ENST00000360111.2_Missense_Mutation_p.E1162K|TRIM59_ENST00000543469.1_3'UTR	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1220	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCATGGATGAGATTGATGC	0.368000													22	133					0	0	0.116897	0	0
ACAN	176	broad.mit.edu	37	15	89398664	89398664	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:89398664G>A	ENST00000439576.2	+	12	3222	c.2848G>A	c.(2848-2850)Gga>Aga	p.G950R	ACAN_ENST00000559004.1_Missense_Mutation_p.G950R|ACAN_ENST00000561243.1_Missense_Mutation_p.G950R|ACAN_ENST00000352105.7_Missense_Mutation_p.G950R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	950					cell adhesion		hyaluronic acid binding|sugar binding	p.G950R(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCTGCCTCTGGAGTTGGGGA	0.547000													29	42					0	0	0.134883	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140729927	140729927	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:140729927A>T	ENST00000523390.1	+	1	100	c.100A>T	c.(100-102)Acg>Tcg	p.T34S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCGATACACGATTCCAGA	0.547000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	6					0	0	0.093190	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236601	118236601	+	Splice_Site	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:118236601G>A	ENST00000369230.3	+	12	1486		c.e12-1			NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3						lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAAACTTTCAGATCTACCTTC	0.358000													9	30					0	0	0.047766	0	0
OR4F6	390648	broad.mit.edu	37	15	102346129	102346129	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr15:102346129C>G	ENST00000328882.4	+	1	228	c.207C>G	c.(205-207)atC>atG	p.I69M		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTTCCATCATCAATTTGGTAT	0.463000													10	331					0	0	0.093190	0	0
COL5A2	1290	broad.mit.edu	37	2	189909940	189909940	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:189909940C>G	ENST00000374866.3	-	47	3602	c.3328G>C	c.(3328-3330)Gga>Cga	p.G1110R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1110					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGTGGTCCTATAGGACCC	0.323000													13	18					0	0	0.043863	0	0
OLFM3	118427	broad.mit.edu	37	1	102290757	102290757	+	Silent	SNP	C	C	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:102290757C>A	ENST00000370103.4	-	4	630	c.417G>T	c.(415-417)gtG>gtT	p.V139V	OLFM3_ENST00000536598.1_Silent_p.V64V|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.V159V|OLFM3_ENST00000359814.3_Silent_p.V159V	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	159						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACTGTTCCAGCACGGGGATCA	0.443000													9	23					7.03913e-09	8.52535e-09	0.093190	1	0
AGO2	27161	broad.mit.edu	37	8	141549469	141549469	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:141549469C>T	ENST00000220592.5	-	16	2231	c.2119G>A	c.(2119-2121)Gtg>Atg	p.V707M	AGO2_ENST00000519980.1_Missense_Mutation_p.V707M	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CTCTTCTGCACCACGATGAAG	0.597000													13	43					0	0	0.093190	0	0
FCN3	8547	broad.mit.edu	37	1	27695848	27695848	+	Missense_Mutation	SNP	C	C	A	rs143244488		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:27695848C>A	ENST00000270879.4	-	8	784	c.779G>T	c.(778-780)cGa>cTa	p.R260L	FCN3_ENST00000354982.2_Missense_Mutation_p.R249L	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	260	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	p.R260Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GAGATTTGATCGGTAACAGGA	0.567000													20	124					6.21321e-17	8.78942e-17	0.076483	1	0
EVPLL	645027	broad.mit.edu	37	17	18286156	18286156	+	Silent	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:18286156G>C	ENST00000399134.4	+	6	847	c.489G>C	c.(487-489)ccG>ccC	p.P163P	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	163										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCACCATCCGGAGCCAATAC	0.682000													7	32					0	0	0.080935	0	0
LIPF	8513	broad.mit.edu	37	10	90427398	90427398	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:90427398G>C	ENST00000394375.3	+	4	321	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q	LIPF_ENST00000238983.4_Missense_Mutation_p.E60Q|LIPF_ENST00000355843.2_Missense_Mutation_p.E60Q	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	60					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTATATTCTTGAAGTCAATAG	0.333000													3	80					0	0	0.021553	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724846	7724846	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:7724846G>A	ENST00000303635.7	+	9	2446	c.2239G>A	c.(2239-2241)Gtg>Atg	p.V747M	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V747M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	747					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTCTACCCCGTGGCCCAGCC	0.632000			T	WWTR1	epitheliod hemangioendothelioma								19	106					0	0	0.055883	0	0
SPARC	6678	broad.mit.edu	37	5	151049324	151049324	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:151049324T>C	ENST00000231061.4	-	6	665	c.352A>G	c.(352-354)Acc>Gcc	p.T118A		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	118	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GAGTCGAAGGTCTTGTTGTCA	0.527000													58	39					0	0	0.139131	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122394	153122394	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:153122394G>T	ENST00000368748.4	-	2	231	c.193C>A	c.(193-195)Cag>Aag	p.Q65K		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	65					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACTTCTGCTGGCAGGGTGGG	0.527000													26	74					9.90768e-06	1.10864e-05	0.099896	1	0
ANKRD12	23253	broad.mit.edu	37	18	9255108	9255108	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:9255108G>C	ENST00000383440.2	+	8	2031	c.1774G>C	c.(1774-1776)Gaa>Caa	p.E592Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.E592Q|ANKRD12_ENST00000262126.3_Missense_Mutation_p.E615Q	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	615						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTTCCACTTAGAATTTGGTGA	0.308000													9	173					0	0	0.058154	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593559	45593559	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr19:45593559C>T	ENST00000270257.4	+	3	434	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	GEMIN7_ENST00000391951.2_Missense_Mutation_p.R63W|CTB-179K24.4_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.R63W|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R63W	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	63					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AGCCGCCCTTCGGGAGCGTTA	0.632000													4	39					0	0	0.014758	0	0
JAK2	3717	broad.mit.edu	37	9	5029897	5029897	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:5029897A>G	ENST00000381652.3	+	4	835	c.341A>G	c.(340-342)tAc>tGc	p.Y114C	JAK2_ENST00000539801.1_Missense_Mutation_p.Y114C	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	114	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AATGTACTCTACAGAATAAGG	0.328000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				24	157					0	0	0.153744	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166744	19166744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:19166744delC	ENST00000375371.3	-	6	1890	c.1869delG	c.(1867-1869)ggfs	p.G623fs		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	623					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCTTGGGCGGCCCCACGTACA	0.607													13	93	---	---	---	---					
C8B	732	broad.mit.edu	37	1	57411544	57411544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:57411544delC	ENST00000543257.1	-	8	1465	c.899delG	c.(898-900)gcfs	p.G300fs	C8B_ENST00000371237.4_Frame_Shift_Del_p.G352fs|C8B_ENST00000535057.1_Frame_Shift_Del_p.G290fs	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	352	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G352V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTCATAAATGCCCCCAAGCAC	0.517													35	51	---	---	---	---					
LRRC7	57554	broad.mit.edu	37	1	70541908	70541908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:70541908delC	ENST00000310961.5	+	24	4557	c.4139delC	c.(4138-4140)acfs	p.T1380fs	LRRC7_ENST00000035383.5_Frame_Shift_Del_p.T1422fs|LRRC7_ENST00000415775.2_Frame_Shift_Del_p.T706fs			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1422						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCACAGGCCACCCGGGGACCT	0.483													31	67	---	---	---	---					
XPR1	9213	broad.mit.edu	37	1	180775672	180775672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:180775672delC	ENST00000367590.4	+	6	858	c.660delC	c.(658-660)gtfs	p.V220fs	XPR1_ENST00000367589.3_Frame_Shift_Del_p.V220fs	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	220						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTTTACGTGTCCCCCCTTTGG	0.393													49	133	---	---	---	---					
PTPRC	5788	broad.mit.edu	37	1	198673612	198673613	+	In_Frame_Ins	INS	-	-	GTG			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr1:198673612_198673613insGTG	ENST00000367376.2	+	8	835_836	c.664_665insGTG	c.(664-666)taa>GTGtaa	p.221_222insV	PTPRC_ENST00000348564.6_In_Frame_Ins_p.62_63insV|PTPRC_ENST00000442510.2_In_Frame_Ins_p.223_224insV|PTPRC_ENST00000352140.3_In_Frame_Ins_p.173_174insV|PTPRC_ENST00000594404.1_In_Frame_Ins_p.60_61insV	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	221					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TACTACTCCATCTAAGCCAACA	0.317													10	58	---	---	---	---					
SLC4A10	57282	broad.mit.edu	37	2	162359399	162359399	+	RNA	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr2:162359399delC	ENST00000605990.1	+	0	344																											TCCTTCTTCACCTTCCAATAT	0.408													10	76	---	---	---	---					
EVC2	132884	broad.mit.edu	37	4	5620294	5620294	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:5620294delC	ENST00000310917.2	-	15	3108	c.2377delG	c.(2377-2379)ccfs	p.A793fs	EVC2_ENST00000344938.1_Frame_Shift_Del_p.A873fs|EVC2_ENST00000344408.5_Frame_Shift_Del_p.A873fs	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	873						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGAACTCGGGCCCGGATCTTG	0.602													34	29	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005529	25005530	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:25005529_25005530insT	ENST00000382114.4	-	8	1366_1367	c.1181_1182insA	c.(1180-1182)cgtfs	p.R394fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	394						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGATGGGGACCTGGGAGCGGCT	0.510													91	158	---	---	---	---					
RBM47	54502	broad.mit.edu	37	4	40434703	40434711	+	In_Frame_Del	DEL	CAGCGGCTG	CAGCGGCTG	-	rs139347188		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr4:40434703_40434711delCAGCGGCTG	ENST00000319592.4	-	5	2001_2009	c.1292_1300delCAGCCGCTG	c.(1291-1302)gtc>g	p.AAAV431del	RBM47_ENST00000295971.7_In_Frame_Del_p.AAAV500del|RBM47_ENST00000514014.1_In_Frame_Del_p.AAAV462del|RBM47_ENST00000381793.2_In_Frame_Del_p.AAAV500del|RBM47_ENST00000381795.6_In_Frame_Del_p.AAAV431del			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	500						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						GTGGGAATGACAgcggctgcggcggctgc	0.565													28	71	---	---	---	---					
ADAMTS2	9509	broad.mit.edu	37	5	178580494	178580494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr5:178580494delC	ENST00000251582.7	-	9	1614	c.1513delG	c.(1513-1515)cgfs	p.A505fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.A505fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	505	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACACTCACCGCCGTGCACATC	0.687													33	35	---	---	---	---					
CDC5L	988	broad.mit.edu	37	6	44387252	44387252	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:44387252delT	ENST00000371477.3	+	9	1458	c.1159delT	c.(1159-1161)tgfs	p.L387fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	387	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAATACCCCATTGCATGAGAG	0.443													101	58	---	---	---	---					
TAAR2	9287	broad.mit.edu	37	6	132939166	132939166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:132939166delC	ENST00000275191.2	-	1	151	c.44delG	c.(43-45)gcfs	p.G15fs	TAAR2_ENST00000367931.1_Frame_Shift_Del_p.G60fs|TAAR2_ENST00000537809.1_Frame_Shift_Del_p.G15fs	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	60						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GGCAAGATTGCCAAATATTGT	0.423													20	76	---	---	---	---					
UTRN	7402	broad.mit.edu	37	6	144782414	144782414	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:144782414delC	ENST00000367545.3	+	21	2789	c.2789delC	c.(2788-2790)gcfs	p.A930fs		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	930					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAATAAGGCCCAGGTGTCT	0.383													64	139	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755359	146755359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr6:146755359delG	ENST00000361719.2	+	9	3482	c.3012delG	c.(3010-3012)ctfs	p.L1004fs	GRM1_ENST00000282753.1_Frame_Shift_Del_p.L1004fs|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1004					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCTTCCTGGCCGAACCAG	0.677													75	69	---	---	---	---					
ELMO1	9844	broad.mit.edu	37	7	37283961	37283962	+	Splice_Site	INS	-	-	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:37283961_37283962insA	ENST00000310758.4	-	7	1095_1096	c.449_splice	c.e7+1	p.L150_splice	ELMO1_ENST00000442504.1_Splice_Site_p.L150_splice|ELMO1_ENST00000448602.1_Splice_Site_p.L150_splice	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	150					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			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATATTCTTACCAAGGCTTCATG	0.351													26	110	---	---	---	---					
CDK13	8621	broad.mit.edu	37	7	40039085	40039085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr7:40039085delG	ENST00000181839.4	+	4	2773	c.2168delG	c.(2167-2169)agfs	p.R723fs	CDK13_ENST00000340829.5_Frame_Shift_Del_p.R723fs|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	723	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TACAAAGCCAGGGATAAAGAC	0.398													30	96	---	---	---	---					
KBTBD11	9920	broad.mit.edu	37	8	1949854	1949855	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr8:1949854_1949855delCG	ENST00000320248.3	+	2	1462_1463	c.496_497delCG	c.(496-498)cfs	p.R166fs		NM_014867.2	NP_055682.1	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	166	BTB.									lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		CGACTACTTCCGCGCGCGCGCG	0.767													2	4	---	---	---	---					
SLC24A2	25769	broad.mit.edu	37	9	19577004	19577005	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:19577004_19577005insT	ENST00000341998.2	-	5	1206_1207	c.1145_1146insA	c.(1144-1146)agcfs	p.S382fs	SLC24A2_ENST00000286344.3_Frame_Shift_Ins_p.S365fs	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	382					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAATTGAAGCCTTTTCTCTGAA	0.505													18	80	---	---	---	---					
BICD2	23299	broad.mit.edu	37	9	95477560	95477560	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr9:95477560delG	ENST00000356884.6	-	7	2511	c.2444delC	c.(2443-2445)cgfs	p.P815fs	BICD2_ENST00000375512.3_Frame_Shift_Del_p.P815fs	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	815					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTGGTCTTCGGGGCGGCTTT	0.682													25	16	---	---	---	---					
MGEA5	10724	broad.mit.edu	37	10	103577682	103577682	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr10:103577682delG	ENST00000361464.3	-	1	493	c.98delC	c.(97-99)gafs	p.A34fs	MGEA5_ENST00000370094.3_Frame_Shift_Del_p.A34fs|MGEA5_ENST00000419011.2_Frame_Shift_Del_p.A34fs|MGEA5_ENST00000439817.1_Frame_Shift_Del_p.A34fs|MGEA5_ENST00000357797.5_Frame_Shift_Del_p.A34fs	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	34					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGCCGGAGCTGCCGGCGGCTC	0.716													2	4	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:281553_281555delGAG	ENST00000534750.1	+	4	2024_2026	c.1819_1821delGAG	c.(1819-1821)del	p.E611del	NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													7	189	---	---	---	---					
TP53I11	9537	broad.mit.edu	37	11	44956516	44956516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:44956516delC	ENST00000533940.1	-	10	1093	c.489delG	c.(487-489)ctfs	p.L165fs	TP53I11_ENST00000395648.3_Frame_Shift_Del_p.L165fs|TP53I11_ENST00000525680.1_Frame_Shift_Del_p.L165fs|TP53I11_ENST00000308212.5_Frame_Shift_Del_p.L165fs	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	165	Poly-Leu.				negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						TGACCAGGAGCAGCAGGATCC	0.602													28	140	---	---	---	---					
STX5	6811	broad.mit.edu	37	11	62591720	62591724	+	Frame_Shift_Del	DEL	TGTTC	TGTTC	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:62591720_62591724delTGTTC	ENST00000294179.3	-	10	975_979	c.822_826delGAACA	c.(820-828)cattfs	p.QNI274fs	STX5_ENST00000541317.1_Frame_Shift_Del_p.QNI178fs|STX5_ENST00000377897.4_Frame_Shift_Del_p.QNI274fs|STX5_ENST00000394690.1_Frame_Shift_Del_p.QNI220fs	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	274	t-SNARE coiled-coil homology.				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GTCGACTCAATGTTCTGCATGGTGT	0.493													15	158	---	---	---	---					
CTSF	8722	broad.mit.edu	37	11	66331419	66331420	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr11:66331419_66331420delCG	ENST00000310325.5	-	13	1548_1549	c.1439_1440delCG	c.(1438-1440)tfs	p.S480fs		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	480				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9).	proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACCACCGCCGAGCTGGCCAT	0.673													10	41	---	---	---	---					
NFATC4	4776	broad.mit.edu	37	14	24845275	24845275	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:24845275delG	ENST00000413692.2	+	9	2357	c.2213delG	c.(2212-2214)ccfs	p.R738fs	NFATC4_ENST00000556759.1_Frame_Shift_Del_p.R210fs|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.R707fs|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.R738fs|NFATC4_ENST00000555167.1_Frame_Shift_Del_p.R210fs|NFATC4_ENST00000554661.1_Frame_Shift_Del_p.R605fs|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.R688fs|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.R688fs|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.R675fs|NFATC4_ENST00000554473.1_Frame_Shift_Del_p.R210fs|NFATC4_ENST00000555453.1_Frame_Shift_Del_p.R663fs|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000250373.4_Frame_Shift_Del_p.R675fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.R675fs|NFATC4_ENST00000422617.3_Frame_Shift_Del_p.R663fs|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.R707fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.R707fs|NFATC4_ENST00000554344.1_Frame_Shift_Del_p.R605fs|NFATC4_ENST00000553879.1_Frame_Shift_Del_p.R605fs|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.R688fs|NFATC4_ENST00000556169.1_Frame_Shift_Del_p.R663fs|NFATC4_ENST00000557451.1_Frame_Shift_Del_p.R605fs|NFATC4_ENST00000555802.1_5'UTR	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	675	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R675H(1)|p.R738H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGAGGAAACGCAGTCCTACC	0.587													76	161	---	---	---	---					
FLRT2	23768	broad.mit.edu	37	14	86088794	86088795	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr14:86088794_86088795insT	ENST00000330753.4	+	2	1703_1704	c.936_937insT	c.(934-939)tgtttgfs	p.L313fs	FLRT2_ENST00000554746.1_Frame_Shift_Ins_p.L313fs	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	313	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATAACCCTTGGTTTTGTGACTG	0.470													87	229	---	---	---	---					
NAGPA	51172	broad.mit.edu	37	16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cfs	p.R46fs	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767													8	37	---	---	---	---					
CBFA2T3	863	broad.mit.edu	37	16	88943549	88943549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr16:88943549delG	ENST00000268679.4	-	12	2193	c.1797delC	c.(1795-1797)ccfs	p.P599fs	CBFA2T3_ENST00000448839.1_Frame_Shift_Del_p.P523fs|CBFA2T3_ENST00000436887.2_Frame_Shift_Del_p.P561fs|CBFA2T3_ENST00000360302.2_Frame_Shift_Del_p.P513fs|CBFA2T3_ENST00000327483.5_Frame_Shift_Del_p.P513fs	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	599					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCACGGCTGTGGGGCCCTGCA	0.721			T	RUNX1	AML								5	6	---	---	---	---					
ITGAE	3682	broad.mit.edu	37	17	3680872	3680873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:3680872_3680873insC	ENST00000263087.4	-	2	214_215	c.116_117insG	c.(115-117)atcfs	p.I39fs		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	39					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCAGAAGGGAGCTGAGCACGAA	0.634													25	48	---	---	---	---					
PLD2	5338	broad.mit.edu	37	17	4711650	4711651	+	In_Frame_Ins	INS	-	-	AGG			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:4711650_4711651insAGG	ENST00000263088.6	+	4	453_454	c.322_323insAGG	c.(322-324)gga>AGGgga	p.107_108insR	PLD2_ENST00000572940.1_In_Frame_Ins_p.107_108insR	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	107	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCGTCATTTTCAGGAGCTGCAT	0.550													37	210	---	---	---	---					
SLFN5	162394	broad.mit.edu	37	17	33586549	33586549	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:33586549delC	ENST00000299977.4	+	2	988	c.840delC	c.(838-840)ttfs	p.F280fs	SLFN5_ENST00000542451.1_Frame_Shift_Del_p.F280fs|SLFN5_ENST00000592325.1_Frame_Shift_Del_p.F280fs	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	280					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TCCTTAACTTCCTTGAAGTGC	0.473													32	186	---	---	---	---					
DDX52	11056	broad.mit.edu	37	17	35981260	35981260	+	Frame_Shift_Del	DEL	C	C	-	rs146778713		TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:35981260delC	ENST00000349699.2	-	11	1456	c.1413delG	c.(1411-1413)ttfs	p.L472fs	DDX52_ENST00000394367.3_Frame_Shift_Del_p.L364fs	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	472	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CTCTTGCTAGCAAGGCTGTAC	0.373													39	48	---	---	---	---					
KCNJ2	3759	broad.mit.edu	37	17	68172112	68172112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr17:68172112delG	ENST00000243457.3	+	2	1315	c.932delG	c.(931-933)tcfs	p.C311fs	KCNJ2_ENST00000535240.1_Frame_Shift_Del_p.C311fs	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	311					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGACACAGTGCCGTAGCTCT	0.468													11	86	---	---	---	---					
SETBP1	26040	broad.mit.edu	37	18	42530239	42530240	+	Frame_Shift_Ins	INS	-	-	A			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:42530239_42530240insA	ENST00000282030.5	+	4	1230_1231	c.934_935insA	c.(934-936)gccfs	p.A312fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	312						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAACGGGCTTCAGCCCTTGGTG	0.535									Schinzel-Giedion syndrome				19	115	---	---	---	---					
LIPG	9388	broad.mit.edu	37	18	47110077	47110077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7980-01A-11D-2184-08	TCGA-69-7980-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	125eda94-46ba-467b-93a5-909b1084136d	ff44cf5d-e9bb-4f79-82b0-056824e2d6b5	g.chr18:47110077delC	ENST00000261292.4	+	8	1587	c.1309delC	c.(1309-1311)ccfs	p.P437fs	LIPG_ENST00000427224.2_Frame_Shift_Del_p.P363fs	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	437	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CCTGTCTCAACCCCGCAACCC	0.592													8	49	---	---	---	---					
