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
FBXW10	10517	broad.mit.edu	37	17	18671866	18671866	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:18671866G>A	ENST00000308799.4	+	9	2030	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E	FBXW10_ENST00000301938.4_Missense_Mutation_p.G575E|FBXW10_ENST00000395665.4_Missense_Mutation_p.G575E|FBXW10_ENST00000395667.1_Missense_Mutation_p.G575E			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	575										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGCCATGAGGGAGCCGTGAAA	0.527000													19	39					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368878	183368878	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:183368878G>A	ENST00000454652.2	+	4	1120	c.734G>A	c.(733-735)aGa>aAa	p.R245K	KLHL24_ENST00000242810.6_Missense_Mutation_p.R245K|KLHL24_ENST00000476808.1_Missense_Mutation_p.R245K	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24		BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GATCTGAGAAGACCACTGTTA	0.423000													27	35					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1372365	1372365	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:1372365C>T	ENST00000476993.1	+	2	210	c.132C>T	c.(130-132)agC>agT	p.S44S	VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	44	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTCAGCCAGCGTCTCTCACT	0.672000													43	42					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113698898	113698898	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:113698898C>T	ENST00000512097.3	+	2	1444	c.426C>T	c.(424-426)ggC>ggT	p.G142G	KCNN2_ENST00000264773.3_Silent_p.G142G|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	142						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCATCTTCGGCATGTTCGGCA	0.612000													35	2					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336628	12336628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:12336628G>T	ENST00000358136.3	+	19	3113	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E995*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	995					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)		TTATGATGCTGAAGTCTCCCT	0.453000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	107	69					2.20344e-50	2.46785e-50	1	1	0
DCXR	51181	broad.mit.edu	37	17	79994847	79994847	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:79994847C>G	ENST00000306869.2	-	3	242	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	DCXR_ENST00000584318.1_Intron	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	65					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCGGTGGCCTCCCAGTCACCC	0.677000													4	6					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370443	38370443	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:38370443G>A	ENST00000322350.5	+	6	937	c.591G>A	c.(589-591)caG>caA	p.Q197Q	EGFLAM_ENST00000354891.3_Silent_p.Q197Q	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	197	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGCGGATCCAGATGGACTCCA	0.507000													40	61					0	0	1	0	0
FAM210A	125228	broad.mit.edu	37	18	13681707	13681707	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr18:13681707G>C	ENST00000322247.3	-	3	757	c.370C>G	c.(370-372)Caa>Gaa	p.Q124E	FAM210A_ENST00000402563.1_Missense_Mutation_p.Q124E|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	124	DUF1279.					integral to membrane											TTGAATCGTTGATAAAGACTA	0.388000													59	70					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46823770	46823770	+	Silent	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:46823770C>A	ENST00000339613.2	+	9	1183	c.928C>A	c.(928-930)Cgg>Agg	p.R310R	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.R364R|HIF3A_ENST00000377670.4_Silent_p.R366R|HIF3A_ENST00000244303.6_Silent_p.R297R|HIF3A_ENST00000420102.2_Silent_p.R315R|HIF3A_ENST00000600383.1_Silent_p.R297R|HIF3A_ENST00000472815.1_Silent_p.R297R			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACCCATTCAGCGGGGCGCCCC	0.657000													44	39					5.20006e-24	5.74744e-24	1	1	0
SMC2	10592	broad.mit.edu	37	9	106880491	106880491	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:106880491G>A	ENST00000286398.7	+	15	2119	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	SMC2_ENST00000303219.8_Missense_Mutation_p.E611K|SMC2_ENST00000374793.3_Missense_Mutation_p.E611K|SMC2_ENST00000374787.3_Missense_Mutation_p.E611K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	611	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTCCTTGGTTGAATATAAACC	0.388000													43	6					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229567907	229567907	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:229567907G>C	ENST00000366684.3	-	5	744	c.642C>G	c.(640-642)atC>atG	p.I214M	ACTA1_ENST00000366683.2_Missense_Mutation_p.I126M	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	214					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCTTCTCCTTGATGTCGCGCA	0.692000													16	12					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368873	183368873	+	Silent	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:183368873G>C	ENST00000454652.2	+	4	1115	c.729G>C	c.(727-729)ctG>ctC	p.L243L	KLHL24_ENST00000242810.6_Silent_p.L243L|KLHL24_ENST00000476808.1_Silent_p.L243L	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24		BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCGTTGATCTGAGAAGACCAC	0.423000													30	38					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153593318	153593318	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:153593318C>T	ENST00000422373.1	-	12	1947	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	FLNA_ENST00000360319.4_Missense_Mutation_p.E567K|FLNA_ENST00000344736.4_Missense_Mutation_p.E567K|FLNA_ENST00000369850.3_Missense_Mutation_p.E567K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	567					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					ACCTTCACTTCGAAGGGACTG	0.632000													42	42					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73535372	73535372	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:73535372G>A	ENST00000418310.1	+	15	1966	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	LIMK1_ENST00000336180.2_Missense_Mutation_p.E592K|LIMK1_ENST00000538333.3_Missense_Mutation_p.E558K			P53667	LIMK1_HUMAN	LIM domain kinase 1	592					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TCTGGACCCCGAGAAGAGGTG	0.672000													51	76					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57850350	57850350	+	Nonsense_Mutation	SNP	G	G	T	rs138089766		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:57850350G>T	ENST00000383718.3	+	10	1140	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	SLMAP_ENST00000295952.3_Nonsense_Mutation_p.E348*|SLMAP_ENST00000295951.3_Nonsense_Mutation_p.E348*|SLMAP_ENST00000428312.1_Nonsense_Mutation_p.E348*|SLMAP_ENST00000449503.2_Nonsense_Mutation_p.E348*|SLMAP_ENST00000416870.1_5'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	348					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TAAAATAGATGAAATGGAAGA	0.353000													44	51					1.32136e-16	1.43218e-16	1	1	0
CANT1	124583	broad.mit.edu	37	17	76993384	76993384	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:76993384G>A	ENST00000302345.2	-	2	815	c.321C>T	c.(319-321)atC>atT	p.I107I	CANT1_ENST00000392446.5_Silent_p.I107I|CANT1_ENST00000591773.1_Silent_p.I107I	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	107					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CGATAACTGCGATTCGATACC	0.577000			T	ETV4	prostate								109	127					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33807197	33807197	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:33807197C>A	ENST00000260908.7	-	2	149	c.32G>T	c.(31-33)gGa>gTa	p.G11V	SLFN12L_ENST00000449046.1_Missense_Mutation_p.G42V|SLFN12L_ENST00000361112.4_Missense_Mutation_p.G40V	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	43						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TAAGCCATTTCCACGCAGAAA	0.398000													17	15					1.15088e-07	1.1935e-07	1	1	0
FARP2	9855	broad.mit.edu	37	2	242415381	242415381	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:242415381G>A	ENST00000264042.3	+	19	2411	c.2241G>A	c.(2239-2241)gaG>gaA	p.E747E		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	747					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGGGCATAGAGAACCTCATTG	0.483000													5	1					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93540504	93540504	+	Silent	SNP	C	C	G	rs141696596	by1000genomes	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:93540504C>G	ENST00000394196.4	+	30	4824	c.3756C>G	c.(3754-3756)gtC>gtG	p.V1252V	CHD2_ENST00000557381.1_Silent_p.V1252V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1252					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTCGTGTCAAAGCTGCAC	0.388000													30	46					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93540489	93540489	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:93540489C>G	ENST00000394196.4	+	30	4809	c.3741C>G	c.(3739-3741)tgC>tgG	p.C1247W	CHD2_ENST00000557381.1_Missense_Mutation_p.C1247W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1247					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTAGATACTGCTTAACCTGTC	0.398000													24	48					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75515646	75515646	+	Missense_Mutation	SNP	T	T	G	rs144707485	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:75515646T>G	ENST00000355774.2	-	2	928	c.713A>C	c.(712-714)tAt>tCt	p.Y238S	MLH3_ENST00000556740.1_Missense_Mutation_p.Y238S|MLH3_ENST00000556257.1_Missense_Mutation_p.Y238S|MLH3_ENST00000238662.7_Missense_Mutation_p.Y238S|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	238					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AGAGCTGATATAGCCACTAAG	0.318000								Mismatch excision repair (MMR)					3	25					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249119080	249119080	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:249119080G>A	ENST00000366472.5	-	2	1284	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	19										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACTTCAGGCCGCAGCTCCCCC	0.607000													91	39					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179090	33179090	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:33179090G>T	ENST00000374656.4	+	5	819	c.611G>T	c.(610-612)cGt>cTt	p.R204L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	204	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						AAGCGACCCCGTGGAGGGGGC	0.711000													21	38					4.54149e-19	4.98673e-19	1	1	0
CCT7	10574	broad.mit.edu	37	2	73466864	73466864	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:73466864G>A	ENST00000258091.5	+	2	241	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CCT7_ENST00000540468.1_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000539919.1_5'UTR|CCT7_ENST00000398422.2_Intron	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	34					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGTGATTGCTGAGGCTGTAAG	0.522000													14	13					0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737171	46737171	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:46737171G>A	ENST00000396533.1	-	4	289	c.39C>T	c.(37-39)ctC>ctT	p.L13L	COX7B2_ENST00000355591.3_Silent_p.L13L|COX7B2_ENST00000543208.1_Silent_p.L12L|COX7B2_ENST00000302930.5_Silent_p.L13L			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	13						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						TTTGAATCTTGAGACTGCTTA	0.423000													38	61					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72146901	72146901	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:72146901C>G	ENST00000356056.5	-	35	6635	c.6163G>C	c.(6163-6165)Gag>Cag	p.E2055Q	MYO9A_ENST00000424560.1_Missense_Mutation_p.E2126Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.E2036Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.E2055Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2055	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGACAGCTCTGGATCATAC	0.348000													53	48					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2312720	2312720	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr20:2312720C>T	ENST00000381458.5	+	10	1469	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	469					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTTGCCGCGACGTCTTCAATG	0.517000													35	37					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79847100	79847100	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:79847100C>T	ENST00000331204.4	-	3	501	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ALYREF_ENST00000505490.2_Missense_Mutation_p.A166T|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	159	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										GCCTTCAGGGCATCTGCCTTC	0.582000													26	26					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995542	32995542	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:32995542G>A	ENST00000330953.5	+	2	796	c.628G>A	c.(628-630)Gga>Aga	p.G210R		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	210					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CAACATTCTCGGATTGGTGAT	0.458000													51	68					0	0	1	0	0
DNAJC7	7266	broad.mit.edu	37	17	40169378	40169378	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:40169378G>A	ENST00000457167.4	-	1	293	c.57C>T	c.(55-57)ctC>ctT	p.L19L	DNAJC7_ENST00000316603.7_5'UTR|NKIRAS2_ENST00000307641.5_5'UTR	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	19					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTTGGTCGTCGAGCAGCTCCG	0.657000													52	72					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200581	47200581	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:47200581C>G	ENST00000296861.2	-	6	2281	c.1888G>C	c.(1888-1890)Gaa>Caa	p.E630Q		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	630					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	p.E630K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCAATAATTTCGAATAGCCGG	0.493000													68	108					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44979476	44979476	+	Silent	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr20:44979476G>T	ENST00000372227.1	-	9	1431	c.891C>A	c.(889-891)ctC>ctA	p.L297L	SLC35C2_ENST00000372229.1_Silent_p.L164L|SLC35C2_ENST00000372230.5_Silent_p.L297L|SLC35C2_ENST00000317734.8_Silent_p.L276L|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Silent_p.L326L|SLC35C2_ENST00000243896.2_Silent_p.L297L	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	297					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GCCAGTTCAGGAGGCTGATCT	0.577000													16	67					2.23348e-06	2.302e-06	1	1	0
IL23R	149233	broad.mit.edu	37	1	67672625	67672625	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:67672625G>A	ENST00000347310.5	+	6	856	c.685G>A	c.(685-687)Gag>Aag	p.E229K	IL23R_ENST00000371002.1_Missense_Mutation_p.E229K|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	229	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTCCAGGGCTGAGACTATAAA	0.373000													18	8					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21818711	21818711	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:21818711G>C	ENST00000328843.6	+	58	9524	c.9493G>C	c.(9493-9495)Gag>Cag	p.E3165Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3158Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3165	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGCTGATGCTGAGGAGCGAAA	0.463000									Kartagener syndrome				12	11					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432303	45432303	+	Missense_Mutation	SNP	G	G	C	rs148819135		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:45432303G>C	ENST00000361462.2	+	1	862	c.679G>C	c.(679-681)Gat>Cat	p.D227H	FAM179B_ENST00000382233.2_Missense_Mutation_p.D227H|FAM179B_ENST00000361577.3_Missense_Mutation_p.D227H			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	227							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAAAGTACCGATGCCCGACT	0.493000													57	6					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945598	45945598	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr21:45945598C>T	ENST00000323084.4	-	8	1339	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	TSPEAR_ENST00000397916.1_Missense_Mutation_p.R357Q|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	425					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						CTCCCAGTCTCGGGCGCTGTG	0.572000													54	87					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670283	74670283	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:74670283C>A	ENST00000609362.1	+	4	589	c.552C>A	c.(550-552)gaC>gaA	p.D184E	FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D197E|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTAGGTTTGACAAACCTGGCT	0.348000													8	59					1.06961e-07	1.11612e-07	1	1	0
FAM179B	23116	broad.mit.edu	37	14	45432049	45432049	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:45432049G>C	ENST00000361462.2	+	1	608	c.425G>C	c.(424-426)cGa>cCa	p.R142P	FAM179B_ENST00000382233.2_Missense_Mutation_p.R142P|FAM179B_ENST00000361577.3_Missense_Mutation_p.R142P			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	142							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCACTGGGCCGAGTGCTTGTG	0.627000													54	11					0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111853251	111853251	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:111853251C>A	ENST00000374586.3	-	5	1132	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	367						integral to membrane											TCAACCAGATCTGCATGACGA	0.443000													27	7					7.26314e-15	7.82184e-15	1	1	0
ACCS	84680	broad.mit.edu	37	11	44089204	44089204	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:44089204C>T	ENST00000263776.8	+	2	461	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Silent_p.F9F	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	9							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						AAAAGGACTTCAGGGCTCCCA	0.537000													37	34					0	0	1	0	0
MTERFD3	80298	broad.mit.edu	37	12	107372070	107372070	+	Silent	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr12:107372070A>G	ENST00000552029.1	-	2	2491	c.423T>C	c.(421-423)ttT>ttC	p.F141F	MTERFD3_ENST00000240050.4_Silent_p.F141F|MTERFD3_ENST00000392830.2_Silent_p.F141F|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTTTAATAGTAAAGAAAGATT	0.398000													15	77					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31021691	31021691	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr20:31021691A>T	ENST00000375687.4	+	12	2114	c.1690A>T	c.(1690-1692)Aaa>Taa	p.K564*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.K559*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	564					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACAGCCCACTAAAGAGGAGCC	0.527000			"""F, N, Mis"""		"""MDS, CMML"""								46	78					0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1278609	1278609	+	RNA	SNP	G	G	C	rs77309587	by1000genomes	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr16:1278609G>C	ENST00000430512.2	-	0	917				TPSB2_ENST00000339687.6_RNA|TPSB2_ENST00000445910.1_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AACAGGAGGGGCTGGCTCTCC	0.612000													3	27					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789671	248789671	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:248789671G>C	ENST00000330803.2	-	1	820	c.759C>G	c.(757-759)ttC>ttG	p.F253L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			CGTATGTGTAGAAGGCAGCCC	0.522000													13	51					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100485	3100485	+	Missense_Mutation	SNP	A	A	G	rs61753772	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr16:3100485A>G	ENST00000336577.4	+	4	836	c.599A>G	c.(598-600)gAg>gGg	p.E200G	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	200					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TTCCCTGGGGAGCACCCCATC	0.582000													3	27					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918913	12918913	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:12918913C>T	ENST00000240189.2	+	2	136	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	17										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCAGAGCCTGCTGAGAGA	0.562000													106	77					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49384281	49384281	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:49384281G>A	ENST00000221399.3	-	13	1694	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	517					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ATTGAAACTGGACAAGCAGAT	0.517000													31	48					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153662055	153662055	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:153662055C>T	ENST00000369762.2	+	6	734	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	225					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					CACAGCGGTCCGCCCTTCCAG	0.612000													3	27					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19384094	19384094	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:19384094G>T	ENST00000328405.2	+	4	724	c.458G>T	c.(457-459)aGa>aTa	p.R153I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	153						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTCAAAGGAAGATCAAGAGCA	0.448000													26	33					2.79863e-10	2.99471e-10	1	1	0
NEUROD4	58158	broad.mit.edu	37	12	55420322	55420322	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr12:55420322G>C	ENST00000242994.3	+	2	477	c.99G>C	c.(97-99)gaG>gaC	p.E33D		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	33					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGGTGAAGGAGGAAGAGAGCA	0.448000													32	11					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129324823	129324823	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:129324823G>A	ENST00000393239.1	-	1	838	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PLXND1_ENST00000324093.4_Silent_p.F220F			Q9Y4D7	PLXD1_HUMAN	plexin D1	220	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGCGCGGGAAGAAGGAGCTGC	0.711000													12	16					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39233498	39233498	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:39233498C>T	ENST00000399820.3	+	18	2218	c.2064C>T	c.(2062-2064)caC>caT	p.H688H	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.H528H	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	688					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GTCTACATCACATGGAAGTGG	0.413000													29	48					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13137996	13137996	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:13137996C>T	ENST00000319217.7	-	29	4407	c.4160G>A	c.(4159-4161)gGa>gAa	p.G1387E	MPDZ_ENST00000541718.1_Missense_Mutation_p.G1387E|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1387E|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1354E|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1354E|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1401E|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1387E|MPDZ_ENST00000538841.1_Missense_Mutation_p.G246E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1387	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCATCTTTTCCTGCAGCTCC	0.408000													30	21					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24815516	24815516	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr16:24815516G>A	ENST00000395799.3	+	12	3842	c.3713G>A	c.(3712-3714)cGa>cAa	p.R1238Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1238Q|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1238	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAAGACAAACGAATGGAGATA	0.398000													27	62					0	0	1	0	0
CCND3	896	broad.mit.edu	37	6	41909293	41909293	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:41909293A>C	ENST00000372991.4	-	1	293	c.95T>G	c.(94-96)cTc>cGc	p.L32R	CCND3_ENST00000372988.4_Intron|CCND3_ENST00000414200.2_Missense_Mutation_p.L32R|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000511642.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	32	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCAGGCGGAGCAGGCTCTG	0.692000			T	IGH@	MM								7	4					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48549632	48549632	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:48549632T>A	ENST00000537810.1	-	41	5647	c.5043A>T	c.(5041-5043)aaA>aaT	p.K1681N	FRYL_ENST00000358350.4_Missense_Mutation_p.K1681N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.K1681N			O94915	FRYL_HUMAN	FRY-like	1681					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTGCAACTTGTTTGACTGTAA	0.343000													28	21					0	0	1	0	0
MAD2L1BP	9587	broad.mit.edu	37	6	43608115	43608115	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:43608115G>C	ENST00000451025.2	+	4	976	c.766G>C	c.(766-768)Gat>Cat	p.D256H	MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.D224H	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	224					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTGTGGAGAAGATTGGTTTCG	0.567000													34	25					0	0	1	0	0
TRGV4	6977	broad.mit.edu	37	7	38393369	38393369	+	RNA	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:38393369G>A	ENST00000390345.2	-	0	634																											ATAAGATTTCGCAGTATCATT	0.468000													24	6					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17113773	17113773	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:17113773G>C	ENST00000265970.7	-	28	4501	c.4502C>G	c.(4501-4503)gCc>gGc	p.A1501G	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1121G|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1501	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTTCCTTTTGGCTGCTACATC	0.323000													32	39					0	0	1	0	0
GULP1	51454	broad.mit.edu	37	2	189449086	189449086	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:189449086A>G	ENST00000409580.1	+	11	1418	c.704A>G	c.(703-705)aAt>aGt	p.N235S	GULP1_ENST00000409609.1_Missense_Mutation_p.N235S|GULP1_ENST00000409843.1_Missense_Mutation_p.N235S|GULP1_ENST00000359135.3_Missense_Mutation_p.N235S|GULP1_ENST00000409805.1_Missense_Mutation_p.N132S|GULP1_ENST00000409830.1_Missense_Mutation_p.N235S			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	235					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CCTACTCGCAATGGCACACAG	0.408000													22	72					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36396889	36396889	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr13:36396889C>T	ENST00000255448.4	-	11	1742	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	DCLK1_ENST00000379893.1_Missense_Mutation_p.D204N|DCLK1_ENST00000360631.3_Missense_Mutation_p.D511N	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	511	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCTTGATATCACGGTGGACG	0.458000													36	40					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176958345	176958345	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:176958345C>T	ENST00000329540.5	-	8	2920	c.91G>A	c.(91-93)Gag>Aag	p.E31K	FAM193B_ENST00000443375.2_Missense_Mutation_p.E372K|FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000508298.1_Intron			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	413										kidney(1)|large_intestine(3)	4						ACTTTGGGCTCCGTGCTGTTG	0.657000													5	0					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18327578	18327578	+	Silent	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:18327578C>G	ENST00000355502.3	-	16	2329	c.1458G>C	c.(1456-1458)ctG>ctC	p.L486L	PDE4C_ENST00000594617.3_Silent_p.L486L|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Silent_p.L486L|PDE4C_ENST00000262805.12_Silent_p.L454L|PDE4C_ENST00000447275.3_Silent_p.L380L|PDE4C_ENST00000598111.2_Silent_p.L201L|PDE4C_ENST00000539010.1_Silent_p.L255L|PDE4C_ENST00000597297.1_Silent_p.L256L			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	486					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGCGCAGACTCAGTCGCTGCT	0.617000													42	62					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105797472	105797472	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:105797472T>C	ENST00000393127.2	+	13	2299	c.1853T>C	c.(1852-1854)cTc>cCc	p.L618P	GRIA4_ENST00000530497.1_Missense_Mutation_p.L618P|GRIA4_ENST00000282499.5_Missense_Mutation_p.L618P|GRIA4_ENST00000525187.1_Missense_Mutation_p.L618P	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	618					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)	tttagaTCCCTCTCAGGTCGA	0.363000													21	75					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84811310	84811310	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:84811310T>C	ENST00000389394.3	+	15	2554	c.2417T>C	c.(2416-2418)gTg>gCg	p.V806A	DNAH6_ENST00000237449.6_Missense_Mutation_p.V806A|DNAH6_ENST00000398278.2_Missense_Mutation_p.V806A	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	806	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAATTTTGTGTGCATTTGGGT	0.343000													24	75					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307466	89307466	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:89307466A>G	ENST00000338104.6	+	4	437	c.385A>G	c.(385-387)Atc>Gtc	p.I129V	TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000345383.5_Missense_Mutation_p.I129V|TTC8_ENST00000346301.4_Missense_Mutation_p.I129V|TTC8_ENST00000380656.2_Missense_Mutation_p.I139V|TTC8_ENST00000354441.6_Intron			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	139					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGAACAGGCTATCAGAACACC	0.527000													20	55					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103343352	103343352	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:103343352C>G	ENST00000258436.5	-	4	422	c.379G>C	c.(379-381)Gga>Cga	p.G127R		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	127					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GTGGCTGCTCCGAGAAGGAGA	0.483000													25	22					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200819069	200819069	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:200819069G>A	ENST00000358823.2	+	11	3442	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.E1069K|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.E1042K	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1069						cytoplasm|microtubule	protein binding										ACATAATCCAGAAGAAAAGGA	0.413000													25	67					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692105	49692105	+	Missense_Mutation	SNP	C	C	T	rs141249428	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:49692105C>T	ENST00000296452.4	+	5	5230	c.5116C>T	c.(5116-5118)Cgg>Tgg	p.R1706W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1706					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AATCCCAGGACGGCAGTCGAC	0.587000													42	72					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50089666	50089666	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:50089666C>T	ENST00000376042.1	+	10	3968	c.3670C>T	c.(3670-3672)Cgt>Tgt	p.R1224C	CCNB3_ENST00000276014.7_Missense_Mutation_p.R1224C|CCNB3_ENST00000348603.2_Missense_Mutation_p.R120C|CCNB3_ENST00000376038.1_Missense_Mutation_p.R120C			Q8WWL7	CCNB3_HUMAN	cyclin B3	1224					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAACTCACCTCGTGTGGATGA	0.463000													44	3					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163407	163407	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:163407C>G	ENST00000283426.6	+	11	2202	c.2152C>G	c.(2152-2154)Cat>Gat	p.H718D		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	718					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)		CCCCAGGAAACATCCCCAGAA	0.607000													67	82					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	52					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43345029	43345029	+	RNA	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:43345029C>T	ENST00000344686.2	-	0	2175				MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGCTCTCTCGGCTGGGCAT	0.607000													46	60					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36130168	36130168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:36130168C>T	ENST00000303965.4	-	21	4116	c.3627G>A	c.(3625-3627)tgG>tgA	p.W1209*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1209	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAGCAGAGATCCAATATGGGT	0.383000													22	37					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153930832	153930832	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:153930832C>A	ENST00000368633.1	-	1	269	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	48					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)			CGGGTGGAGCCGATGTCCATC	0.687000													14	20					4.7546e-09	5.05553e-09	1	1	0
VWCE	220001	broad.mit.edu	37	11	61036487	61036487	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:61036487C>G	ENST00000335613.5	-	15	2175	c.1789G>C	c.(1789-1791)Gat>Cat	p.D597H	VWCE_ENST00000535710.1_Missense_Mutation_p.D62H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	597	VWFC 4.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACCGAGCCATCTGCCTGGAGG	0.612000													12	12					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159547979	159547979	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:159547979G>C	ENST00000307765.5	+	10	1014	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	RXFP1_ENST00000448688.2_Intron|RXFP1_ENST00000460056.2_Missense_Mutation_p.E174Q|RXFP1_ENST00000470033.1_Missense_Mutation_p.E222Q|RXFP1_ENST00000343542.5_Missense_Mutation_p.E255Q	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	255						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGGGACCTTGAAGGCAACCA	0.264000													18	21					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30615898	30615898	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:30615898G>A	ENST00000269051.4	+	4	396	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	RHBDL3_ENST00000536287.1_Missense_Mutation_p.G30R|RHBDL3_ENST00000538145.1_Missense_Mutation_p.G120R	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	128					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)				GGAGGAGAAGGGGCTGAGCCT	0.592000													20	17					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167365587	167365587	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:167365587G>A	ENST00000367862.5	+	10	1254	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R288Q|POU2F1_ENST00000420254.3_Missense_Mutation_p.R328Q|POU2F1_ENST00000541643.3_Missense_Mutation_p.R328Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.R351Q	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	328	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ACCATCTCTCGATTTGAAGCC	0.428000													124	13					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38677716	38677716	+	Silent	SNP	C	C	G	rs61734982	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr8:38677716C>G	ENST00000379931.3	+	3	1333	c.954C>G	c.(952-954)ctC>ctG	p.L318L	TACC1_ENST00000518415.1_Silent_p.L273L|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_Silent_p.L123L|TACC1_ENST00000520340.1_Silent_p.L282L|TACC1_ENST00000317827.4_Silent_p.L318L|TACC1_ENST00000520973.1_Silent_p.L123L|TACC1_ENST00000443286.2_Silent_p.L334L|TACC1_ENST00000519416.1_Silent_p.L123L|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	318	Interaction with YEATS4.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GCTCACCTCTCAAGCTTGAGT	0.527000													47	43					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107084739	107084739	+	Silent	SNP	A	A	G	rs6718521	by1000genomes	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:107084739A>G	ENST00000409886.3	-	1	93	c.6T>C	c.(4-6)agT>agC	p.S2S	RGPD3_ENST00000304514.7_Silent_p.S2S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	2					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTTGCTGCAACTCATCGCGC	0.657000													2	4					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52813598	52813598	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:52813598G>A	ENST00000273283.2	+	5	585	c.561G>A	c.(559-561)gtG>gtA	p.V187V	ITIH1_ENST00000540715.1_Silent_p.V45V|ITIH1_ENST00000542827.1_Silent_p.V187V	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	187					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)		AGCAGCTGGTGCATCATTTTG	0.532000													38	31					0	0	1	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75487081	75487081	+	RNA	SNP	C	C	T	rs7099599	by1000genomes	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr10:75487081C>T	ENST00000399449.3	-	0	396				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							CCTCTGATCTCGGTCAACTTC	0.517000													4	59					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974704	29974704	+	RNA	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:29974704G>A	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							CCGTGAGTCTGAGGATGAAGA	0.677000													12	8					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113556577	113556577	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr13:113556577C>T	ENST00000375608.3	+	2	119	c.61C>T	c.(61-63)Cca>Tca	p.P21S	MCF2L_ENST00000442652.2_Missense_Mutation_p.P21S|MCF2L_ENST00000397036.1_Missense_Mutation_p.P21S			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	21					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TTATTCTTCCCCACAACGGCC	0.473000													9	15					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886086	88886086	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr8:88886086T>A	ENST00000319675.3	-	1	210	c.114A>T	c.(112-114)agA>agT	p.R38S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	38										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						AGTTGGCGAATCTGAGGAAAC	0.522000													15	58					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24739631	24739631	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:24739631C>T	ENST00000399409.3	-	3	631	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	RABGGTA_ENST00000216840.6_Missense_Mutation_p.E50K|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	50					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CTTGTCAGTTCCAGCACGGAC	0.522000													16	1					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73832317	73832317	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:73832317G>A	ENST00000207549.4	-	16	1789	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	UNC13D_ENST00000412096.2_Silent_p.F470F	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	470	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCAGGTGGAACCATTCAG	0.667000									Familial Hemophagocytic Lymphohistiocytosis				10	9					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24739609	24739609	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:24739609C>T	ENST00000399409.3	-	3	653	c.170G>A	c.(169-171)gGa>gAa	p.G57E	RABGGTA_ENST00000216840.6_Missense_Mutation_p.G57E|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	57					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		AGGGTTGGCTCCCAGAATCTG	0.537000													18	1					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45868143	45868143	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:45868143G>A	ENST00000391945.4	-	7	624	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	ERCC2_ENST00000485403.2_Silent_p.L159L|ERCC2_ENST00000391944.3_Intron|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Silent_p.L159L	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	183	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CGCCGCCCCAGGGCCTTCAGG	0.652000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				20	20					0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371709	19371709	+	Missense_Mutation	SNP	C	C	T	rs114536312	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:19371709C>T	ENST00000291481.7	-	3	460	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	133	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			TGCAGCGTGACGTTGCGGAGG	0.652000													27	49					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437377	1437377	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:1437377C>T	ENST00000345913.4	+	4	438	c.347C>T	c.(346-348)aCg>aTg	p.T116M	TPO_ENST00000346956.3_Missense_Mutation_p.T116M|TPO_ENST00000349624.3_Missense_Mutation_p.T116M|TPO_ENST00000382201.3_Missense_Mutation_p.T116M|TPO_ENST00000337415.3_Missense_Mutation_p.T116M|TPO_ENST00000382269.3_Missense_Mutation_p.T116M|TPO_ENST00000539820.1_Missense_Mutation_p.T116M|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.T116M|TPO_ENST00000382198.1_Missense_Mutation_p.T116M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	116					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGCATCCAACGGGTAATGTG	0.498000													8	5					0	0	1	0	0
CDKN2B	1030	broad.mit.edu	37	9	22008730	22008730	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:22008730C>G	ENST00000380142.4	-	1	541	c.223G>C	c.(223-225)Ggg>Cgg	p.G75R	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B_ENST00000276925.6_Intron|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B_ENST00000539462.1_Missense_Mutation_p.G75R|CDKN2B-AS1_ENST00000583719.1_RNA			P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	0					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		GTTCCAGCCCCGATCCGCCGA	0.652000											OREG0019127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	39					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11362441	11362441	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:11362441G>A	ENST00000227756.4	-	7	1614	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CCCTGAGAGCGTTCCTGCGGA	0.582000													103	105					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089918	115089918	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr13:115089918C>T	ENST00000361283.1	+	3	910	c.601C>T	c.(601-603)Cct>Tct	p.P201S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	201	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										GAAACTTGCCCCTGTTCCTTC	0.488000													94	112					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24740142	24740142	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:24740142C>T	ENST00000399409.3	-	2	498	c.15G>A	c.(13-15)ctG>ctA	p.L5L	RABGGTA_ENST00000216840.6_Silent_p.L5L|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	5					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TCTTCACCTTCAGGCGTCCGT	0.557000													8	2					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35853067	35853067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:35853067C>T	ENST00000314607.6	+	13	2205	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.Q620*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	709					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)				CAAAATGTTTCAGTTCTGTGG	0.294000													34	70					0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36651906	36651906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:36651906C>T	ENST00000405375.1	+	2	263	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.Q44*|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.Q10*|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.Q10*	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	10					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGATGTCCGTCAGAACCCATG	0.637000													21	15					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789860	92789860	+	Silent	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:92789860G>C	ENST00000610020.1	+	8	1492	c.1383G>C	c.(1381-1383)ctG>ctC	p.L461L		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGTTAAATCTGAGGATCAGGG	0.403000													20	58					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998486	120998486	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:120998486C>T	ENST00000392793.1	+	9	2071	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	TECTA_ENST00000264037.2_Silent_p.F600F			O75443	TECTA_HUMAN	tectorin alpha	600	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCCGAGCTTCAGCCACTACT	0.622000													41	43					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560350	35560350	+	Missense_Mutation	SNP	G	G	A	rs145749994	by1000genomes	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:35560350G>A	ENST00000455600.1	+	10	4282	c.3713G>A	c.(3712-3714)gGa>gAa	p.G1238E		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1238						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCagaaggtggagaagaggaa	0.706000													9	18					0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:83776476C>G	ENST00000322019.9	+	1	318	c.44C>G	c.(43-45)tCg>tGg	p.S15W	TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15W|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15W|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15W			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	15						integral to membrane		p.S15W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTCCCTCTCGGCCATCCCG	0.736000													5	4					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013262	103013262	+	Silent	SNP	G	G	A	rs138611669		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:103013262G>A	ENST00000409599.1	+	12	1898	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	IL18R1_ENST00000233957.1_Silent_p.K514K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	514	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.K514K(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTTCTGGAAGAACCTTCTTT	0.413000													29	52					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80400259	80400259	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:80400259G>A	ENST00000337014.6	+	12	2023	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	HEXDC_ENST00000577944.1_Silent_p.L489L|HEXDC_ENST00000327949.9_Silent_p.*487*	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGACCCCTGAGGGGAGAGC	0.701000													30	31					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744787	17744787	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:17744787G>A	ENST00000380060.3	+	6	2836	c.2498G>A	c.(2497-2499)cGt>cAt	p.R833H	NHS_ENST00000398097.3_Missense_Mutation_p.R677H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	833						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCACCTAAACGTAGCTCATCA	0.488000													89	7					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239749	21239749	+	Silent	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:21239749G>T	ENST00000380222.2	-	1	229	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	62					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATTCCTCCTGGGGAAATTCAA	0.473000													67	173					3.07184e-27	3.41768e-27	1	1	0
TULP2	7288	broad.mit.edu	37	19	49384274	49384274	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:49384274G>A	ENST00000221399.3	-	13	1701	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	519					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCTTCTAATTGAAACTGGACA	0.512000													28	49					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33113450	33113450	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:33113450G>C	ENST00000306065.4	-	18	1863	c.1705C>G	c.(1705-1707)Cta>Gta	p.L569V		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	569					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCAATGTGTAGAGGGGTGTCT	0.542000													67	84					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49227726	49227726	+	Splice_Site	SNP	T	T	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:49227726T>G	ENST00000340334.7	-	3	442		c.e3-2		FOLH1_ENST00000356696.3_Splice_Site|FOLH1_ENST00000343844.4_Splice_Site|FOLH1_ENST00000533034.1_Splice_Site|FOLH1_ENST00000256999.2_Splice_Site	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1						proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TAAACCACCCTGAAAAATACA	0.299000													10	77					0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16636050	16636050	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:16636050A>G	ENST00000250863.8	-	8	958	c.671T>C	c.(670-672)gTt>gCt	p.V224A	DAZL_ENST00000399444.2_Missense_Mutation_p.V204A	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	204					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						CGGAGGTACAACATAGCTCCT	0.299000													10	10					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232105	117232105	+	Silent	SNP	G	G	A	rs121908777		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:117232105G>A	ENST00000003084.6	+	14	2016	c.1884G>A	c.(1882-1884)ggG>ggA	p.G628G	CFTR_ENST00000454343.1_Silent_p.G567G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	628	ABC transporter 1.		G -> R (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATTTTTATGGGACATTTTCAG	0.343000									Cystic Fibrosis				48	62					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925149	218925149	+	RNA	SNP	G	G	A	rs6758271	by1000genomes	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:218925149G>A	ENST00000439871.1	-	0	1231					NR_002712.1																						TGATCAAGCCGTGTATGGCTA	0.502000													4	27					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216249686	216249686	+	Silent	SNP	C	C	T	rs142628915		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:216249686C>T	ENST00000354785.4	-	29	4995	c.4626G>A	c.(4624-4626)ccG>ccA	p.P1542P	FN1_ENST00000432072.2_Silent_p.P1542P|FN1_ENST00000356005.4_Silent_p.P1451P|FN1_ENST00000357867.4_Silent_p.P1451P|FN1_ENST00000323926.6_Silent_p.P1542P|FN1_ENST00000446046.1_Silent_p.P1451P|FN1_ENST00000421182.1_Silent_p.P1451P|FN1_ENST00000346544.3_Silent_p.P1451P|FN1_ENST00000443816.1_Silent_p.P1451P|FN1_ENST00000336916.4_Silent_p.P1451P|FN1_ENST00000359671.1_Silent_p.P1451P|FN1_ENST00000357009.2_Silent_p.P1451P|FN1_ENST00000345488.5_Silent_p.P1451P			P02751	FINC_HUMAN	fibronectin 1	1545	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGTCCCTCGGAACATCAG	0.418000													11	8					0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408909	17408909	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:17408909C>T	ENST00000339994.4	-	1	1297	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	KCNJ11_ENST00000528731.1_Missense_Mutation_p.V157M	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	157						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TTGCCACCCACGCCGTTCTCC	0.627000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	46					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188745	57188745	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:57188745T>C	ENST00000331162.4	-	5	647	c.377A>G	c.(376-378)aAa>aGa	p.K126R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACAGCATTTTTTAAATTGTAA	0.368000													10	105					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741058	48741058	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:48741058A>G	ENST00000285238.8	+	9	1095	c.1015A>G	c.(1015-1017)Atc>Gtc	p.I339V	ABCC3_ENST00000427699.1_Missense_Mutation_p.I339V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	339	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GATCAGGTTTATCTCCAACCC	0.587000													27	49					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13137991	13137991	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:13137991C>T	ENST00000319217.7	-	29	4412	c.4165G>A	c.(4165-4167)Gat>Aat	p.D1389N	MPDZ_ENST00000541718.1_Missense_Mutation_p.D1389N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1389N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1356N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1356N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1403N|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1389N|MPDZ_ENST00000538841.1_Missense_Mutation_p.D248N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1389	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AATCGACCATCTTTTCCTGCA	0.408000													31	19					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89858609	89858609	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:89858609G>A	ENST00000310775.7	+	37	3999	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	FANCI_ENST00000566615.1_3'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.E1245K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1305					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGGTGAAGATGAAAATGAAGA	0.498000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				31	39					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43547922	43547922	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:43547922C>G	ENST00000306846.3	-	3	761	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	PAIP1_ENST00000514514.1_Missense_Mutation_p.E98Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E65Q|PAIP1_ENST00000436644.2_Missense_Mutation_p.E98Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	177	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATTTCAGTTTCAAAACTGCCA	0.398000													43	55					0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16688392	16688392	+	Silent	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:16688392G>T	ENST00000263390.3	-	3	511	c.249C>A	c.(247-249)ctC>ctA	p.L83L	CTD-3222D19.2_ENST00000409035.1_Silent_p.L91L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	83	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCGGCTCGATGAGCTTCTGCC	0.672000													24	26					2.32416e-17	2.53544e-17	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803746	142803746	+	RNA	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:142803746A>G	ENST00000423385.1	-	0	1219																											actatggattagagctgatta	0.393000													3	9					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69926394	69926394	+	Silent	SNP	G	G	A	rs151017803	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr10:69926394G>A	ENST00000358913.5	+	10	2432	c.1944G>A	c.(1942-1944)gaG>gaA	p.E648E	MYPN_ENST00000354393.2_Silent_p.E373E|MYPN_ENST00000540630.1_Silent_p.E648E	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	648						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCGTGAAAGAGCCCCCTCCAG	0.488000													3	28					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163317648	163317648	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:163317648G>A	ENST00000271452.3	+	12	1323	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	NUF2_ENST00000524800.1_Silent_p.K301K|NUF2_ENST00000367900.3_Silent_p.K348K	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	348	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGATTGTGAAGAAGGAAAAAC	0.353000													9	45					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64114205	64114205	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:64114205G>A	ENST00000371083.4	+	8	1584	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	PGM1_ENST00000371084.3_Missense_Mutation_p.E388K|PGM1_ENST00000540265.1_Missense_Mutation_p.E191K	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	388					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCACATCCGTGAGAAAGATGG	0.522000													10	24					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73751256	73751256	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:73751256C>T	ENST00000276033.5	+	6	1876	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	SLC16A2_ENST00000587091.1_Silent_p.F496F			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	496						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TCCTCTTCTTCGTCCCTCTGA	0.532000													51	6					0	0	1	0	0
ALKBH7	84266	broad.mit.edu	37	19	6372969	6372969	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:6372969G>A	ENST00000245812.3	+	1	526	c.138G>A	c.(136-138)gaG>gaA	p.E46E		NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	46						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAGAGGAGGAGACGCTGAGCC	0.736000													7	2					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1409371	1409371	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:1409371C>T	ENST00000381524.3	+	7	801	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CSF2RA_ENST00000417535.2_Silent_p.F205F|CSF2RA_ENST00000355805.2_Silent_p.F205F|CSF2RA_ENST00000501036.2_Silent_p.F72F|CSF2RA_ENST00000381509.3_Silent_p.F205F|CSF2RA_ENST00000381529.3_Silent_p.F205F|CSF2RA_ENST00000361536.3_Silent_p.F205F|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Silent_p.F205F|CSF2RA_ENST00000381500.1_Silent_p.F205F|CSF2RA_ENST00000355432.3_Silent_p.F205F			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	205						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GCATCCAATTCTTTGATTCAC	0.383000													129	179					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235403707	235403707	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:235403707A>G	ENST00000264183.3	-	8	1003	c.506T>C	c.(505-507)aTt>aCt	p.I169T	ARID4B_ENST00000349213.3_Missense_Mutation_p.I169T|ARID4B_ENST00000366603.2_Missense_Mutation_p.I169T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TAGCTCATCAATCTGTTTCCT	0.373000													38	4					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183369003	183369003	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:183369003G>A	ENST00000454652.2	+	4	1245	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	KLHL24_ENST00000242810.6_Missense_Mutation_p.E287K|KLHL24_ENST00000476808.1_Missense_Mutation_p.E287K	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTTGTTGCATGAAGCAAGACG	0.418000													19	24					0	0	1	0	0
RP11-739N20.2	0	broad.mit.edu	37	1	204363979	204363980	+	RNA	INS	-	-	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:204363979_204363980insA	ENST00000443515.1	+	0	146																											atttgtttttcaaaaaaaaaaa	0.307													4	6	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652198	36652199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:36652198_36652199insG	ENST00000405375.1	+	2	555_556	c.320_321insG	c.(319-324)gaggaafs	p.E108fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.E108fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.E142fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.E108fs|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	108					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGGACAGCAGAGGAAGACCATG	0.653													21	28	---	---	---	---					
TRBV6-5	28602	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115																											CCTGCAGAGAAGGAGAACAAAGC	0.557													7	119	---	---	---	---					
CYP7A1	1581	broad.mit.edu	37	8	59410812	59410812	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr8:59410812delT	ENST00000301645.3	-	2	434	c.297delA	c.(295-297)aaafs	p.K99fs		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	99					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAAAGTGAAATTTTTTCCAAT	0.323									Neonatal Giant Cell Hepatitis				29	133	---	---	---	---					
PARD3	56288	broad.mit.edu	37	10	34630676	34630689	+	Frame_Shift_Del	DEL	ACCTGTCATCTTCT	ACCTGTCATCTTCT	-			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr10:34630676_34630689delACCTGTCATCTTCT	ENST00000374789.3	-	16	2608_2621	c.2283_2296delAGAAGATGACAGGT	c.(2281-2298)atagaagatgacaggttgfs	p.EDDRL762fs	PARD3_ENST00000350537.4_Frame_Shift_Del_p.EDDRL746fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.EDDRL702fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.EDDRL746fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.EDDRL746fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.EDDRL759fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.EDDRL759fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.EDDRL702fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.EDDRL476fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.EDDRL702fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.EDDRL759fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.EDDRL762fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	762	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGCACTGGCAACCTGTCATCTTCTATAATGACAG	0.481													32	83	---	---	---	---					
PIDD	55367	broad.mit.edu	37	11	800588	800596	+	In_Frame_Del	DEL	CGCCCTCGA	CGCCCTCGA	-	rs139057055		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:800588_800596delCGCCCTCGA	ENST00000347755.5	-	12	2129_2137	c.1988_1996delTCGAGGGCG	c.(1987-1998)ttcgagggcgaa>taa	p.663_666FEGE>*	PIDD_ENST00000411829.2_In_Frame_Del_p.663_666FEGE>*	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	663					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										AAGAACTCTTCGCCCTCGAACATCTCCAC	0.684													13	19	---	---	---	---					
GSPT1	2935	broad.mit.edu	37	16	12009530	12009531	+	In_Frame_Ins	INS	-	-	CCG	rs71408216		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr16:12009530_12009531insCCG	ENST00000434724.2	-	1	246_247	c.47_48insCGG	c.(46-48)ggg>ggCGGg	p.16_16G>GG	GSPT1_ENST00000439887.2_In_Frame_Ins_p.16_16G>GG|AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000420576.2_Intron	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	43					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772													5	2	---	---	---	---